UBE2A (ubiquitin conjugating enzyme E2 A)

2003-11-01  

Identity

HGNC
UBE2A
LOCATION
Xq24
LOCUSID
7319
ALIAS
HHR6A,MRXS30,MRXSN,RAD6A,UBC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7319
MIM: 312180
HGNC: 12472
Ensembl: ENSG00000077721

Variants:

dbSNP: 7319
ClinVar: 7319
TCGA: ENSG00000077721
COSMIC: UBE2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000077721ENST00000346330A0A0R4J2E5
ENSG00000077721ENST00000371558P49459
ENSG00000077721ENST00000625938P49459
ENSG00000077721ENST00000628549A0A0D9SG71
ENSG00000077721ENST00000629303A0A0D9SF75
ENSG00000077721ENST00000630695P49459
ENSG00000077721ENST00000631185A0A0D9SEZ6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168
Protein ubiquitinationREACTOMER-HSA-8852135
Synthesis of active ubiquitin: roles of E1 and E2 enzymesREACTOMER-HSA-8866652
E3 ubiquitin ligases ubiquitinate target proteinsREACTOMER-HSA-8866654

References

Pubmed IDYearTitleCitations
236850732013Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.37
169093932006UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.27
209672072010Convergence of Rad6/Rad18 and Fanconi anemia tumor suppressor pathways upon DNA damage.26
225925292012Phosphorylation by cyclin-dependent kinase-9 controls ubiquitin-conjugating enzyme-2A function.20
253849752015RAD6 promotes homologous recombination repair by activating the autophagy-mediated degradation of heterochromatin protein HP1.18
204121112010Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.16
288063952017RAD6 promotes DNA repair and stem cell signaling in ovarian cancer and is a promising therapeutic target to prevent and treat acquired chemoresistance.16
220839592012RAD6 regulates the dosage of p53 by a combination of transcriptional and posttranscriptional mechanisms.14
235250092013RNF168 forms a functional complex with RAD6 during the DNA damage response.13
211083932010UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.12

Citation

Dessen P

UBE2A (ubiquitin conjugating enzyme E2 A)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42746/ube2a