Gene: Sirt2 MGI:1927664

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Gene Summary

Name:
sirtuin 2
Synonyms:
SIR2L2,  5730427M03Rik,  Sir2l

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
increased heart weight Sirt2tm1a(EUCOMM)Wtsi HOM Early adult 8.27×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (3 of 6)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 33.33% (2 of 6)
Bone N/A heterozygote Ambiguous
Brain N/A heterozygote 100% (6 of 6)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 6)
Cartilage tissue N/A heterozygote 100% (6 of 6)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (6 of 6)
Gall bladder N/A heterozygote 66.67% (4 of 6)
Heart N/A heterozygote 100% (6 of 6)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (6 of 6)
Large intestine N/A heterozygote 33.33% (2 of 6)
Liver N/A heterozygote 16.67% (1 of 6)
Lower urinary tract N/A heterozygote 100% (6 of 6)
Lung N/A heterozygote 100% (6 of 6)
Lymph node N/A heterozygote 16.67% (1 of 6)
Mammary gland N/A heterozygote 0.0% (0 of 6)
Esophagus N/A heterozygote 100% (6 of 6)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (3 of 6)
Oviduct N/A heterozygote 50% (3 of 6)
Pancreas N/A heterozygote 100% (6 of 6)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 100% (6 of 6)
Peyer's patch N/A heterozygote 0.0% (0 of 6)
Pituitary gland N/A heterozygote 66.67% (4 of 6)
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue N/A heterozygote 100% (6 of 6)
Skin N/A heterozygote 100% (6 of 6)
Small intestine N/A heterozygote 66.67% (4 of 6)
Spinal cord N/A heterozygote 100% (6 of 6)
Spleen N/A heterozygote 66.67% (4 of 6)
Stomach N/A heterozygote 83.33% (5 of 6)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (3 of 6)
Thymus N/A heterozygote 0.0% (0 of 6)
Thyroid gland N/A heterozygote 16.67% (1 of 6)
Trachea N/A heterozygote 100% (6 of 6)
Uterus N/A heterozygote 50% (3 of 6)
White adipose tissue N/A heterozygote 0.0% (0 of 6)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 34 images

Human diseases caused by Sirt2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sirt2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Punctate Palmoplantar Keratoderma Type 1
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... ORPHA:79501
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Germ cell neopla... ORPHA:157798
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Ethanolaminosis
Cardiomegaly OMIM:227150
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Familial Melanoma
Abnormal hair morphology, Neoplasm of the breast, Neoplasm of the stomach, Neoplasm of the pancre... ORPHA:618
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Hamartoma, Hurthle cell thyroid adenoma, Papillary re... OMIM:145001
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Ovarian cyst, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Infantile Myofibromatosis
Gingival fibromatosis, Abnormal hair morphology, Benign neoplasm of the central nervous system, F... ORPHA:2591
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Hepatome... ORPHA:83469
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Neoplasm of the rectum, Neoplasm of the nose, Nasal polyposis, Esophageal... ORPHA:2869
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Familial Colorectal Cancer Type X
Basal cell carcinoma, Benign neoplasm of the central nervous system, Neuroblastoma, Neoplasm of t... ORPHA:440437
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Retinal capillary hemangioma, Pheochromocytoma, Pancreatic c... OMIM:193300
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Intestinal bleeding, Intussusception, N... OMIM:175200
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated hepatic transaminase, Colon cancer, Extrahepatic cholestasis, Exocri... ORPHA:1333
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Spinal cord tumor, Uterine neoplasm, Jaundice, Brain neoplasm, Pancreatitis, Ne... ORPHA:370348
Carney Complex
Elevated circulating growth hormone concentration, Osteochondroma, Hirsutism, Cardiac myxoma, Bro... ORPHA:1359
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Grfoma
Adrenocortical adenoma, Elevated circulating growth hormone concentration, Primary hyperparathyro... ORPHA:97261
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Neoplasm, Alope... ORPHA:2959
Ppoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth ho... ORPHA:97278
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Somatostatinoma
Subcutaneous lipoma, Adrenocortical adenoma, Medullary thyroid carcinoma, Extrahepatic cholestasi... ORPHA:97283
Vipoma
Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, G... ORPHA:97282
Dyskeratosis Congenita
Premature graying of hair, Neoplasm, Neoplasm of the pancreas, Cirrhosis, White hair, Hepatic fai... ORPHA:1775
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Retinal capillary hemangioma, Pancreatic cysts, Endolymphatic sac tum... ORPHA:892
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Uterine leiomyoma, Peptic ulcer, Renal hamartoma, Nephroblastoma, Thyroid carcinoma, Tes... ORPHA:99880
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Insulinoma, Pituit... ORPHA:652
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Parathyroid Carcinoma
Parathyroid carcinoma, Fibroma, Uterine leiomyoma, Peptic ulcer, Nephroblastoma, Renal hamartoma,... ORPHA:143
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Glucagonoma
Subcutaneous lipoma, Glossitis, Adrenocortical adenoma, Extrahepatic cholestasis, Elevated circul... ORPHA:97280
Paragangliomas 4
Gastrointestinal stroma tumor, Extraadrenal pheochromocytoma, Neuroblastoma, Adrenal pheochromocy... OMIM:115310
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Neoplasm of the rectum, Es... ORPHA:44890
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibromas OMIM:606764
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas OMIM:147630
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Juvenile Polyposis Syndrome
Pulmonary arteriovenous malformation, Hamartomatous stomach polyps, Juvenile gastrointestinal pol... ORPHA:2929
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Goiter, Intestinal polyposis, Breast carcinoma, Trichilemmo... OMIM:616858
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma ORPHA:97286
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... ORPHA:276399
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Leiomyosarcoma, Paragang... ORPHA:139411
Common Variable Immunodeficiency
Recurrent bronchitis, Gastrointestinal stroma tumor, Elevated hepatic transaminase, Bronchiectasi... ORPHA:1572
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Multiple Endocrine Neoplasia, Type I
Esophagitis, Subcutaneous lipoma, Adrenocortical adenoma, Prolactinoma, Zollinger-Ellison syndrom... OMIM:131100
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas ORPHA:358
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Renal a... OMIM:610755
Multiple Endocrine Neoplasia Type 4
Adrenocortical adenoma, Elevated circulating growth hormone concentration, Insulinoma, Carcinoid ... ORPHA:276152
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, Carcinoid tumor, Neoplasm of the thymu... ORPHA:97289
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
Dermatomyositis
Gastrointestinal stroma tumor, Abnormal hair quantity, Pulmonary fibrosis, Lymphoma, Neoplasm, Ab... ORPHA:221
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227650
17Q11 Microdeletion Syndrome
Atypical neurofibromatosis, Plexiform neurofibroma, Breast carcinoma, Precocious puberty, Glomus ... ORPHA:97685
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227645
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Neuroblastoma, Neoplasm, Breast carcinoma, Neoplasm of the lung, Small cell lun... ORPHA:1183
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Prolonged G2 phase of cell cycle, Hypergonadotropic hypogonadism, Esophageal atre... OMIM:227646
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... OMIM:306955

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 Sirt2

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 Sirt2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A role for SIRT2-dependent histone H3K18 deacetylation in bacterial infection. Science (New York, N.Y.) (August 2013) Sirt2tm1a(EUCOMM)Wtsi 23908241

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MGI Allele Allele Type Produced
Sirt2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sirt2tm39885(L1L2_gt0) Targeting vectors

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