UBE2H (ubiquitin conjugating enzyme E2 H)

2007-04-01  

Identity

HGNC
LOCATION
7q32.2
LOCUSID
ALIAS
E2-20K,GID3,UBC8,UBCH,UBCH2
FUSION GENES

Other Information

Locus ID:

NCBI: 7328
MIM: 601082
HGNC: 12484
Ensembl: ENSG00000186591

Variants:

dbSNP: 7328
ClinVar: 7328
TCGA: ENSG00000186591
COSMIC: UBE2H

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186591ENST00000355621P62256
ENSG00000186591ENST00000355621A4D1L5
ENSG00000186591ENST00000472396C9JZY6
ENSG00000186591ENST00000473814P62256
ENSG00000186591ENST00000480245H7C4M9
ENSG00000186591ENST00000490974C9JZG9
ENSG00000186591ENST00000496698C9J8Q9
ENSG00000186591ENST00000649897A0A3B3IU20

Expression (GTEx)

0
50
100
150

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.19
146390492003Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder.7
200289762010Targets of the Tal1 transcription factor in erythrocytes: E2 ubiquitin conjugase regulation by Tal1.3
199221362009Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.2
199221362009Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.2

Citation

Dessen P

UBE2H (ubiquitin conjugating enzyme E2 H)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47471/ube2h