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Ube2a Gene Detail
Summary
  • Symbol
    Ube2a
  • Name
    ubiquitin-conjugating enzyme E2A
  • Synonyms
    HHR6A, HR6A
  • Feature Type
    protein coding gene
  • IDs
    MGI:102959
    NCBI Gene: 22209
Location & Maps
more
  • Sequence Map
    ChrX:36873900-36884222 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10323 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    UBE2A, ubiquitin conjugating enzyme E2A
  • Vertebrate Orthologs
    9
  • Human Ortholog
    UBE2A, ubiquitin conjugating enzyme E2A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HHR6A, MRXS30, MRXSN, RAD6A, UBC2
  • Links
    NCBI Gene ID: 7319
    neXtProt AC: NX_P49459

  • Chr Location
    Xq24; chrX:119574467-119584429 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human UBE2A associations

Human Disease Mouse Models
       Mental Retardation, X-Linked, Syndromic, Nascimento Type; MRXSN   OMIM: 300860
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    5 phenotypes from multigenic genotypes
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Gene trapped
    10
  • Targeted
    3
Homozygous mutation of this gene results in decreased body weight. Females are infertile while males show partial prenatal lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017105 VEGA Gene Model | MGI Sequence Detail 10323 C57BL/6J ±  kb
transcript OTTMUST00000041426 VEGA | MGI Sequence Detail 1732 Not Applicable  
polypeptide OTTMUSP00000018586 VEGA | MGI Sequence Detail 152 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    6 from dbSNP Build 137
Protein
Information
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  • UniProt
    12 Sequences
  • Protein Ontology
    PR:000016965 ubiquitin-conjugating enzyme E2 A
  • EC
  • InterPro Domains
    IPR023313 Ubiquitin-conjugating enzyme, active site
    IPR000608 Ubiquitin-conjugating enzyme E2
    IPR016135 Ubiquitin-conjugating enzyme/RWD-like
Molecular
Reagents
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  • All nucleic 88
    cDNA 87
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-23795
References
more
  • Summaries
    All 36
    Developmental Gene Expression 2
    Gene Ontology 10
    Phenotypes 7
  • Earliest
    J:12580 Koken MH, et al., Localization of two human homologs, HHR6A and HHR6B, of the yeast DNA repair gene RAD6 to chromosomes Xq24-q25 and 5q23-q31. Genomics. 1992 Mar;12(3):447-53
  • Latest
    J:227629 Bruinsma CF, et al., An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression. Hum Mol Genet. 2016 Jan 1;25(1):1-8

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory