Seroatlas · Human Serome Atlas

UBE2A

Ubiquitin-conjugating enzyme E2 A

Also known as: HHR6A, HR6A, RAD6A, UBC2, UBE2A_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P49459
Gene: UBE2A
Ensembl: ENSG00000077721
Chromosome: X
Canonical length: 152 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles,Plasma membrane,Cytosol,Flagellar centriole,Mid piece,Principal piece

OverviewNCBI Gene

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

152 residues, UniProt reviewed canonical sequence.

>P49459|UBE2A
     1  MSTPARRRLM RDFKRLQEDP PAGVSGAPSE NNIMVWNAVI FGPEGTPFED GTFKLTIEFT
    61  EEYPNKPPTV RFVSKMFHPN VYADGSICLD ILQNRWSPTY DVSSILTSIQ SLLDEPNPNS
   121  PANSQAAQLY QENKREYEKR VSAIVEQSWR DC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UBE2A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 72 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 72 nTPM
heart muscle: 58 nTPM
esophagus: 55 nTPM
placenta: 53 nTPM
tongue: 51 nTPM
colon: 48 nTPM

Single-cell type

syncytiotrophoblasts: 697 nCPM
esophageal apical cells: 551 nCPM
thyrotrophs: 490 nCPM
extravillous trophoblasts: 286 nCPM
gonadotrophs: 246 nCPM
somatotrophs: 242 nCPM

Immune cell

non-classical monocyte: 101 nTPM
eosinophil: 92 nTPM
intermediate monocyte: 91 nTPM
neutrophil: 76 nTPM
myeloid DC: 74 nTPM
plasmacytoid DC: 58 nTPM

Brain region

pons: 36 nTPM
white matter: 36 nTPM
medulla oblongata: 36 nTPM
cerebellum: 34 nTPM
spinal cord: 32 nTPM
thalamus: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UBE2A.

Disease | AllUniProt

Conditions UBE2A is implicated in, by any mechanism.

Intellectual developmental disorder, X-linked, syndromic, Nascimento-type (MRXSN) MIM:300860

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 117 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Syndromic X-linked intellectual disability Nascimento type
Inborn genetic diseases
Nonpapillary renal cell carcinoma
Intellectual disability
Neurodevelopmental delay

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.54
gnomAD pLI: 0.82
gnomAD missense Z: 2.46
DepMap mean gene effect: -0.19
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of UBE2A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads UBE2A as an antibody target. Whether an autoantibody or antibody against UBE2A could matter depends on whether native UBE2A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

UBE2A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label UBE2A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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