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Gene: Ube2d2a MGI:1930715

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ubiquitin-conjugating enzyme E2D 2A
Synonyms:
ubc4,  1500034D03Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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 Ube2d2a 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 Ube2d2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
46,Xy Sex Reversal 9
Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia OMIM:616067
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Cortisone Reductase Deficiency 2
Premature pubarche OMIM:614662
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Macroorchidism, Oligozoospermia ORPHA:3000
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyotype OMIM:264300
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Male pseudohermaphroditis... OMIM:400044
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, Hypogonadotropic hypogonadism ORPHA:752
Cortisone Reductase Deficiency 1
Precocious puberty OMIM:604931
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Precocious Puberty, Central, 1
Isosexual precocious puberty OMIM:176400
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females OMIM:620311
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... OMIM:250790
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri... OMIM:201810
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty ORPHA:254525
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... ORPHA:90795
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Dystonia 28
Precocious puberty ORPHA:589618
Ollier Disease
Precocious puberty ORPHA:296
Temple Syndrome
Precocious puberty, Cryptorchidism ORPHA:254516
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty ORPHA:254531
Septopreoptic Holoprosencephaly
Precocious puberty ORPHA:280195
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty ORPHA:293181
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism OMIM:619243
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Long penis, Clitoral hypertrophy OMIM:262190
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty OMIM:300958
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Temple Syndrome
Precocious puberty, Cryptorchidism, Decreased testicular size OMIM:616222
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... ORPHA:398079
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty ORPHA:91354
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Cryptorchidism OMIM:614736
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia OMIM:620073
19P13.3 Microduplication Syndrome
Precocious puberty, Unilateral cryptorchidism ORPHA:447980
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Cryptorchidism ORPHA:96184
Donohue Syndrome
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy OMIM:246200
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... ORPHA:813
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hypoplastic labia... ORPHA:398069
19P13.12 Microdeletion Syndrome
Precocious puberty, Cryptorchidism, Hypospadias ORPHA:254346
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... ORPHA:98754
Radio-Tartaglia Syndrome
Precocious puberty OMIM:619312
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hypoplastic labia... ORPHA:739
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... ORPHA:98793
Mccune-Albright Syndrome
Precocious puberty OMIM:174800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... ORPHA:177901
Slc35A2-Cdg
Precocious puberty ORPHA:356961
Smith-Magenis Syndrome
Precocious puberty ORPHA:819
Carpenter Syndrome 1
Precocious puberty, Cryptorchidism, External genital hypoplasia OMIM:201000
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Ovarian neoplasm, Neoplasm of the scrotum, Uterine neoplasm ORPHA:370348
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia ORPHA:324313
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... OMIM:176270
Familial Glucocorticoid Deficiency
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Azoospermia, Leydig cell neopl... ORPHA:361
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty ORPHA:261652
Myhre Syndrome
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... ORPHA:2588
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Ambiguous genitalia, Oligozoospermia, Female pseudohermaphroditism ORPHA:786
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty ORPHA:163681
Bainbridge-Ropers Syndrome
Precocious puberty, Cryptorchidism OMIM:615485
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Micropenis ORPHA:96092
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormality of female external genitalia ORPHA:2637
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Precocious puberty, Ovarian cyst, Macroorchidism, Abnormal testi... ORPHA:562
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism ORPHA:2874
Rabson-Mendenhall Syndrome
Precocious puberty, Enlarged ovaries, Long penis, Clitoral hypertrophy ORPHA:769
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Hypospadias OMIM:210720
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Cryptorchidism, Hypospadias ORPHA:96182
Pallister-Hall Syndrome
Precocious puberty, Cryptorchidism, Micropenis, Decreased testicular size OMIM:146510
Tay-Sachs Disease
Precocious puberty ORPHA:845
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty ORPHA:369837
Alexander Disease
Precocious puberty ORPHA:58
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Bi... OMIM:270400
Kabuki Syndrome
Precocious puberty, Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:2322
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Cryptorchidism, Labial hypertrophy ORPHA:96191
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty OMIM:301066
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty OMIM:619269
Tuberous Sclerosis 1
Precocious puberty OMIM:191100
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Cryptorchidism, Hypospadias, Testicular neoplasm ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Cryptorchidism, Hypospadias, Testicular neoplasm ORPHA:363958
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Aicardi Syndrome
Precocious puberty ORPHA:50
Tuberous Sclerosis 2
Precocious puberty OMIM:613254
Aicardi Syndrome
Precocious puberty OMIM:304050
Early Infantile Epileptic Encephalopathy
Precocious puberty, Micropenis ORPHA:1934
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Testicular ... ORPHA:1359
Pallister-Hall Syndrome
Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Hydrometrocolpos, Aplasia/Hypopla... ORPHA:672
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism OMIM:616682
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele ORPHA:2044
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus OMIM:194190
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism ORPHA:636
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Polycysti... ORPHA:904
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Uterine prolapse ORPHA:438213
Sponastrime Dysplasia
Precocious puberty, Hypospadias ORPHA:93357
17Q11 Microdeletion Syndrome
Precocious puberty ORPHA:97685

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 Ube2d2a

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 Ube2d2a.

No publications found that use IMPC mice or data for Ube2d2a.

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MGI Allele Allele Type Produced
Ube2d2atm462043(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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