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Gene: Eif2ak2 MGI:1353449

Gene Summary

Name:

eukaryotic translation initiation factor 2-alpha kinase 2

Synonyms:

dsRNA-activated kinase, Tik, 4732414G15Rik, Prkr, Pkr, 2310047A08Rik, IFN-induced and double-stranded RNA-activated kinase, IFN- type I-induced and dsRNA-activated kinase, eIF-2 alpha

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating calcium level	Eif2ak2^em1(IMPC)Mbp	HOM	Early adult	8.46×10^-08
abnormal spleen morphology	Eif2ak2^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Eif2ak2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating serum albumin level	Eif2ak2^em1(IMPC)Mbp	HOM	Early adult	5.93×10^-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Eif2ak2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Eif2ak2 (3 diseases)
Human diseases predicted to be associated with Eif2ak2 (301 diseases)

The table below shows human diseases associated to Eif2ak2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Early-Onset Generalized Limb-Onset Dystonia			ORPHA:256
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome			OMIM:618877
Dystonia 33			OMIM:619687

The table below shows human diseases predicted to be associated to Eif2ak2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,...	OMIM:308220
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Immunodeficiency 18	Defective T cell proliferation, Recurrent respiratory infections, Recurrent gastroenteritis, Recu...	OMIM:615615
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Adamantinoma	Hypercalcemia	ORPHA:55881
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Candidiasis, Familial, 1	Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis	OMIM:114580
Granulomatous Slack Skin	Abnormal lymph node morphology, Hypercalcemia	ORPHA:33111
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c...	OMIM:619868
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b...	OMIM:619658
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly	ORPHA:172
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hypercalcemia	ORPHA:2668
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Alpha-Heavy Chain Disease	Anemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly	ORPHA:100025
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia, Hypercalcemia, Hepatomegaly	ORPHA:2123
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Lymphadenopathy, Hypercalcemia, Thrombocytopenia	ORPHA:69077
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri...	OMIM:612526
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isof...	OMIM:613752
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Immunodeficiency 11	Recurrent respiratory infections, Decreased circulating antibody level, Pneumocystis jirovecii pn...	OMIM:615206
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Immunodeficiency 66	Defective T cell proliferation, Pustule, Meningitis, Recurrent skin infections, Sepsis	OMIM:618847
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge...	OMIM:209950
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Caspase 8 Deficiency	Decreased T cell activation, Decreased circulating total IgM, Recurrent herpes, Eczema, Recurrent...	OMIM:607271
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Pancreatitis, Hypermagnesemia	OMIM:145980
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia	OMIM:145001
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Recurrent infections, Eczema, Reduced natural killer cell activity	OMIM:614493
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Pancreatitis, Hypermagnesemia	OMIM:145981
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Hypophosphatasia	Anemia, Hypercalcemia	ORPHA:436
Refractory Celiac Disease	Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ...	ORPHA:398063
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra...	OMIM:616050
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Lymphoproliferative Syndrome, X-Linked, 1	Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt...	OMIM:308240
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism...	ORPHA:64743
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Pancreatic islet cell adenoma, Hypercalcemia, Mediastinal lymphadenopathy...	ORPHA:97289
Immunodeficiency, Common Variable, 2	Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media...	OMIM:240500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice...	OMIM:267700
Hyperparathyroidism, Neonatal Severe	Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly	OMIM:239200
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ...	ORPHA:507
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb...	OMIM:226990
Analbuminemia	Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen...	OMIM:616000
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Hemochromatosis, Type 5	Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ...	OMIM:615517
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Sepsis	OMIM:267500
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc...	ORPHA:158061
Immunodeficiency, Common Variable, 1	Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent bronchitis, Recurrent ...	OMIM:607594
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Bare Lymphocyte Syndrome, Type Ii	Panhypogammaglobulinemia, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, ...	OMIM:209920
Chylomicron Retention Disease	Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia	OMIM:246700
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia, Splenomegaly, Hepatomegaly	OMIM:618440
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatic steatosis, Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalbuminemia	OMIM:618805
Mastocytosis	Mastocytosis, Hypercalcemia, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia	ORPHA:98292
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol...	ORPHA:86839
Uremic Pruritus	Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia	ORPHA:94059
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia	ORPHA:2591
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy...	ORPHA:103910
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha...	OMIM:603553
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypercalcemia, Pancreatitis, Hypermagnesemia	OMIM:600740
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia	OMIM:619013
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Primary Intestinal Lymphangiectasia	Anemia, Reduced proportion of CD4+ effector memory T cells, Abnormal lymphatic vessel morphology,...	ORPHA:90362
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hepatocellular Carcinoma	Anemia, Abnormality of the liver, Hyponatremia, Liver abscess, Hepatic necrosis, Jaundice, Hypoka...	ORPHA:88673
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia	ORPHA:94090
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Multiple Myeloma	Anemia, Lymphadenopathy, Hypercalcemia, Elevated circulating creatinine concentration, Hyperprote...	ORPHA:29073
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Anemia, Hypercalcemia	OMIM:241500
Immunodeficiency 43	Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta...	OMIM:241600
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ...	ORPHA:247598
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent fungal infections, Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Decreas...	ORPHA:572
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia	ORPHA:79320
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia	OMIM:602361
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Hepatitis, Normocytic anemia, Hyperkalemia, Hypercalcemia, Macrocytic anemia, Eosi...	ORPHA:199299
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Eczema, Recurrent otitis media, ...	OMIM:619774
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia	ORPHA:251004
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ...	OMIM:251880
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypercalcemia, Hypocalcemic seizures, Renal hypophosphatemia, Pancreatitis	ORPHA:405
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Mpi-Cdg	Portal hypertension, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia	ORPHA:79319
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concen...	OMIM:242150
Thymic Aplasia	Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningitis, Pneumonia, Sepsi...	ORPHA:83471
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra...	ORPHA:540
Immunodeficiency With Hyper-Igm, Type 1	Sclerosing cholangitis, Meningitis, Impaired memory B cell generation, Sepsis, Decreased circulat...	OMIM:308230
Congenital Disorder Of Glycosylation, Type Ib	Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Hepatomegaly, Hypoalbuminemia	OMIM:602579
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal...	ORPHA:2070
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypophosphatemia, Hypocalcemia	ORPHA:89937
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Intestinal lymphan...	OMIM:226300
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia	OMIM:616267
X-Linked Agammaglobulinemia	Anemia, Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils,...	ORPHA:47
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Citrullinemia Type Ii	Hypercholesterolemia, Hepatic fibrosis, Hepatocellular carcinoma, Acute hyperammonemia, Hepatic s...	ORPHA:247585
Monosomy 13Q34	Hepatic steatosis, Hypercalcemia	ORPHA:96168
Wolcott-Rallison Syndrome	Abnormality of the liver, Lymphocytosis, Jaundice, Hyperbilirubinemia, Iron deficiency anemia, Hy...	ORPHA:1667
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hypernatremia, Hypoal...	ORPHA:529799
Stormorken Syndrome	Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb...	OMIM:185070
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia...	ORPHA:567548
Acute Adrenal Insufficiency	Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia,...	ORPHA:95409
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Cholestasis, Hepatomegaly, Elevated circulating creatinine concentration, Thrombocytopeni...	OMIM:608104
Liver Failure, Infantile, Transient	Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Hepatomegaly, Macrovesicular hepa...	OMIM:613070
S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Abnormality of the liver, Hyperhomocystinemia, Hepatocellular carcinoma, Elev...	ORPHA:88618
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Cirrhosis, Hepatosplenomegaly, Hepatomegaly, Portal hypertension, Hypoalbuminemia	ORPHA:367
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypoalbuminemia	ORPHA:656
Congenital Enterovirus Infection	Leukopenia, Anemia, Abnormal macrophage morphology, Hepatitis, Hyperammonemia, Cholestasis, Leuko...	ORPHA:292
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:36913
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent opportunistic infections, Lack of T cell function, Decreased circulating total IgM, Dec...	ORPHA:35078
Osteopetrosis, Autosomal Recessive 1	Anemia, Hypocalcemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:259700
Addison Disease	Thymoma, Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Thiam...	ORPHA:85138
Grfoma	Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the thymus, Neoplasm of the pancreas...	ORPHA:97261
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev...	ORPHA:64753
Albers-Schönberg Osteopetrosis	Anemia, Abnormal leukocyte morphology, Hypocalcemia	ORPHA:53
Vipoma	Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Neoplasm of the liver,...	ORPHA:97282
Ppoma	Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Intrahepatic cholestas...	ORPHA:97278
Ménétrier Disease	Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Hypoproteinemi...	OMIM:235255
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Somatostatinoma	Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Intrahepatic cholestas...	ORPHA:97283
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Panhypogammaglobulinemia, Abnormality of B cell physiology, Recurrent otitis media, Cutaneous ane...	OMIM:600802
Kenny-Caffey Syndrome, Type 1	Anemia, Hypocalcemia, Hypomagnesemia	OMIM:244460
Colchicine Poisoning	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo...	ORPHA:31824
Congenital Analbuminemia	Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	ORPHA:86816
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Abno...	ORPHA:37042
Pheochromocytoma	Hypercalcemia	OMIM:171300
Multiple Endocrine Neoplasia, Type I	Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia	OMIM:131100
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Avian Influenza	Leukopenia, Hepatitis, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated ...	ORPHA:454836
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphangiectasis, Hypoproteinemia, Hep...	ORPHA:1655
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia	OMIM:617575
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Macrovesicular hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, ...	OMIM:617303
Bartter Syndrome, Type 1, Antenatal	Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri...	OMIM:601678
Glucagonoma	Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Normochromic anemia, I...	ORPHA:97280
Timothy Syndrome	Hypocalcemia	OMIM:601005
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia	OMIM:612462
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Abnormal circulating lipid concentration, Hepatit...	ORPHA:186
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Hy...	OMIM:617156
Juvenile Polyposis Syndrome	Hypokalemia, Anemia, Hypoalbuminemia	OMIM:174900
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypophosphatemia, Hypercalcemia, Pancreatitis	ORPHA:99880
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypophosphatemia, Hypercalcemia, Pancreatitis	ORPHA:143
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia	ORPHA:99845
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia	ORPHA:249
Multiple Endocrine Neoplasia Type 4	Thymoma, Extrahepatic cholestasis, Abnormality of pancreas physiology, Insulinoma, Hypercalcemia	ORPHA:276152
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Jaundice, Elevated circulating creatine kinase conce...	ORPHA:26793
Wilson Disease	Cirrhosis, Anemia, Hemolytic anemia, Jaundice, Decreased circulating ceruloplasmin concentration,...	OMIM:277900
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Anemia, Hemolytic anemia, Hepatosplenomegaly, Hepatic steatosis, Acute pancreat...	OMIM:619487
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Osteopetrosis, Autosomal Recessive 5	Anemia, Hyperbilirubinemia, Extramedullary hematopoiesis, Hypocalcemia, Pancytopenia, Hepatosplen...	OMIM:259720
Bacterial Toxic-Shock Syndrome	Hepatitis, Peritonitis, Increased circulating metamyelocyte count, Hypocalcemia, Elevated circula...	ORPHA:36234
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Hepatic fibrosis, Splenomegaly, Cirrhosis, Abnormality of the pancreas, Abnor...	OMIM:222470
Mirage Syndrome	Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatremia, Hypoplastic spleen	OMIM:617053
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Hypercalcemia, Cervical lymphadenopathy	ORPHA:653
Zollinger-Ellison Syndrome	Jaundice, Extrahepatic cholestasis, Hypercalcemia	ORPHA:913
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Anemia, Leukocytosis, Hypoalbuminemia	ORPHA:67
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Pearson Syndrome	Anemia, Hyperalaninemia, Abnormality of the liver, Hypophosphatemia, Hypokalemia, Hypocalcemia, M...	ORPHA:699
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas...	ORPHA:94093
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia, Splenomegaly	OMIM:617913
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:264700
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Hypocalcemia	ORPHA:3426
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Pancreatitis, Cholangiocarcinoma, Hepatocellula...	ORPHA:171
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Bile duct proliferation, Macrovesicular hepatic steatosis, Hypoalbuminemia	OMIM:618329
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pericardial lymphangiectasia, Intestinal ly...	OMIM:235510
Abetalipoproteinemia	Hepatic fibrosis, Cirrhosis, Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia,...	ORPHA:14
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia	ORPHA:94089
Kenny-Caffey Syndrome, Type 2	Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia	OMIM:127000
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Sarcoidosis	Abnormal lymph node morphology, Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Lym...	ORPHA:797
Al Amyloidosis	Anemia, Howell-Jolly bodies, Abnormality of the liver, Increased circulating NT-proBNP concentrat...	ORPHA:85443
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentra...	ORPHA:89842
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Leigh Syndrome With Nephrotic Syndrome	Hypoalbuminemia	ORPHA:255249
Hypophosphatemic Rickets	Hypophosphatemia, Hypercalcemia	ORPHA:437
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hepatic calcification, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Cholera	Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia	ORPHA:173
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Hepatic steatosis, Thrombocytosis, Hepatomegaly, Hypocholesterolemia, Hypoalbum...	OMIM:212065
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Diffuse hepatic steatosis, Cholestasis	ORPHA:746
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Hypocalcemic Vitamin D-Dependent Rickets	Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:289157
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia, Hypoalbuminemia	OMIM:254900
Igg4-Related Thyroid Disease	Sclerosing cholangitis, Pancreatic fibrosis, Hypocalcemia, Retroperitoneal fibrosis	ORPHA:64744
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Multiple Endocrine Neoplasia Type 1	Thymoma, Neoplasm of the pancreas, Hypercalcemia, Insulinoma	ORPHA:652
Immunodeficiency 82 With Systemic Inflammation	Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Hepatitis, Decre...	OMIM:619381
Juvenile Nephropathic Cystinosis	Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine...	ORPHA:411634
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Alg12-Cdg	B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Hypoalbuminemia	ORPHA:79324
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Anemia, Hepatosplenomegaly, Bone marrow hypocellularity, Thrombocytopenia, Hypoalbumi...	ORPHA:505248
Marburg Hemorrhagic Fever	Leukopenia, Elevated circulating creatinine concentration, Jaundice, Hypokalemia, Reticulocytosis...	ORPHA:99826
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Macrocytic anemia	OMIM:212750
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased prealbumin level, Reduced circulating transferrin concentration, Lymphopenia...	ORPHA:90363
Visceral Steatosis, Congenital	Hepatic steatosis, Jaundice, Hypocalcemia	OMIM:228100
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cirrhosis, Anemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatic steatosis...	OMIM:613658
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Skin rash...	ORPHA:542323
Hennekam Syndrome	Pulmonary lymphangiectasia, Lymphopenia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Lymphangioma	ORPHA:2136
Autosomal Recessive Malignant Osteopetrosis	Anemia, Hypophosphatemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly	ORPHA:667
Osteopetrosis With Renal Tubular Acidosis	Leukopenia, Anemia, Elliptocytosis, Enlarged tonsils, Hypocalcemia, Pancytopenia, Elevated circul...	ORPHA:2785
Insulin-Resistance Syndrome Type B	Leukopenia, Biliary cirrhosis, Abnormal circulating lipid concentration, Abnormal circulating fat...	ORPHA:2298
Pseudohypoparathyroidism Type 1C	Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia	ORPHA:79444
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Liver Disease, Severe Congenital	Portal inflammation, Elevated circulating alpha-fetoprotein concentration, Hepatic steatosis, Hep...	OMIM:619991
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Williams Syndrome	Abnormal circulating lipid concentration, Hypercalcemia, Cholelithiasis, Elevated circulating cre...	ORPHA:904
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hypomagnesemia, Hyperphosphatemia	ORPHA:428
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Isotretinoin-Like Syndrome	Hypocalcemia, Lymphopenia	ORPHA:2306
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Pseudohypoparathyroidism Type 1A	Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia	ORPHA:79443
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Hypoalbuminemia	ORPHA:79396
Cartilage-Hair Hypoplasia	Anemia, Abnormality of the pancreas, Hepatomegaly, Hypocalcemia, Neutropenia	ORPHA:175
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia	ORPHA:163979
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Pancr...	ORPHA:544482
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Williams-Beuren Syndrome	Portal hypertension, Hypercalcemia	OMIM:194050
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Juvenile Polyposis Of Infancy	Anemia, Refractory anemia, Hypoalbuminemia	ORPHA:79076
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration...	ORPHA:466650
Craniofacioskeletal Syndrome	Absent gallbladder, Hypocalcemia	OMIM:300712
Smith-Lemli-Opitz Syndrome	Cirrhosis, Hepatic steatosis, Hepatomegaly, Cholestatic liver disease, Hypocholesterolemia, Eleva...	OMIM:270400
Gitelman Syndrome	Hypokalemia, Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypocalcemia, Hyp...	ORPHA:358
Sotos Syndrome	Prolonged neonatal jaundice, Acute lymphoblastic leukemia, Hypercalcemia	ORPHA:821
Cranioectodermal Dysplasia 1	Hepatic fibrosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hepatic cysts, Hypocalc...	OMIM:218330
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Jaundice, Intrahepatic bile duct dilatation, Hype...	OMIM:619534
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Abnormality of the tonsils, Cholelithiasis, Thrombocytope...	ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Hyperphosphatemia, Hypocalcemic tetany	ORPHA:93325
Digeorge Syndrome	Anemia, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Abnormality of the thymus, Cho...	OMIM:188400
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Splenomegaly, Eosinophilia, Hepatomegaly	ORPHA:75565
Acrodysostosis With Multiple Hormone Resistance	Hypocalcemia, Hyperphosphatemia	ORPHA:280651
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Hypocalcemia, Hepatosplenomegaly, Hepatic steatosis, Cholestasis, Portal hypert...	OMIM:619503
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Charge Syndrome	Aplasia/Hypoplasia of the thymus, Hypocalcemia, Lymphopenia	OMIM:214800
Johanson-Blizzard Syndrome	Exocrine pancreatic insufficiency, Hypocalcemia, Increased VLDL cholesterol concentration, Choles...	OMIM:243800
Pmm2-Cdg	Hepatic fibrosis, Abnormal liver parenchyma morphology, Impaired neutrophil chemotaxis, Reduced t...	ORPHA:79318
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome		OMIM:618877
Early-Onset Generalized Limb-Onset Dystonia		ORPHA:256
Dystonia 33		OMIM:619687

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Eif2ak2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Eif2ak2.

No publications found that use IMPC mice or data for Eif2ak2.

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MGI Allele	Allele Type	Produced
Eif2ak2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Eif2ak2^{tm284228(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Eif2ak2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Eif2ak2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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