UBE2H (ubiquitin conjugating enzyme E2 H)

2007-04-01  

Identity

HGNC
UBE2H
LOCATION
7q32.2
LOCUSID
7328
ALIAS
E2-20K,GID3,UBC8,UBCH,UBCH2
FUSION GENES
Show Gene Fusions

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
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
324033992020Predictive Potential of Circulating Ube2h mRNA as an E2 Ubiquitin-Conjugating Enzyme for Diagnosis or Treatment of Alzheimer's Disease.10
324033992020Predictive Potential of Circulating Ube2h mRNA as an E2 Ubiquitin-Conjugating Enzyme for Diagnosis or Treatment of Alzheimer's Disease.10
200289762010Targets of the Tal1 transcription factor in erythrocytes: E2 ubiquitin conjugase regulation by Tal1.8
200289762010Targets of the Tal1 transcription factor in erythrocytes: E2 ubiquitin conjugase regulation by Tal1.8
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.31
199221362009Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.6
199221362009Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.6
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.31
199221362009Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.6
199221362009Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS.6
146390492003Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder.13
146390492003Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder.13

Citation

Dessen P

UBE2H (ubiquitin conjugating enzyme E2 H)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

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