UBE2H
Ubiquitin Conjugating Enzyme E2 H
Gene Information Card
| Symbol | UBE2H |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 H |
| Gene Type | Protein coding |
| Chromosomal Location | 7q32.2 |
| NCBI Gene ID | 7328 ncbi.nlm.nih.gov/gene/7328 |
| Ensembl ID | ENSG00000105939 |
| UniProt ID | P62256 |
| OMIM ID | 602968 |
| HGNC ID | 12484 |
| Aliases | UBC8, UBCH2, E2-20K |
Description
UBE2H encodes a member of the ubiquitin-conjugating enzyme (E2) family. This enzyme catalyzes the second step in ubiquitin conjugation, accepting ubiquitin from an E1 activating enzyme and transferring it to a target protein via an E3 ligase. UBE2H is involved in protein degradation, cell cycle regulation, and stress responses. It is widely expressed and has been implicated in cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered UBE2H expression may affect ubiquitination of tumor suppressors (e.g., p53) and oncoproteins, influencing cell proliferation and survival. | PMID: 25691885; COSMIC overexpression in breast tumors. |
| Colorectal cancer | UBE2H upregulation correlates with poor prognosis; may promote Wnt/β-catenin signaling via ubiquitination of β-catenin regulators. | PMID: 29367642; TCGA expression data. |
| Neurodegenerative diseases (e.g., Alzheimer's) | Dysregulation of ubiquitin-proteasome system; UBE2H may contribute to tau or amyloid-β clearance defects. | PMID: 23382691; ClinVar variants in dementia cohorts. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 18.5 | Medium-high |
| Kidney | 14.1 | Medium |
| Testis | 22.3 | High |
| Skeletal muscle | 9.7 | Low-medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 16.4 | Embryonic kidney; high expression |
| HeLa | 13.2 | Cervical carcinoma; moderate expression |
| MCF7 | 11.8 | Breast cancer; moderate expression |
| HepG2 | 19.1 | Hepatocellular carcinoma; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% (gnomAD) | Potential loss of start codon; likely loss of function |
| c.316G>A (p.Gly106Arg) | Missense | 0.02% (gnomAD) | May affect ubiquitin binding; functional impact uncertain |
| c.427C>T (p.Arg143Trp) | Missense | 0.01% (gnomAD) | Reported in ClinVar as VUS; possible altered E2 activity |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the active site cysteine (Cys85) or ubiquitin-binding residues are predicted to impair ubiquitin transfer, leading to reduced proteasomal degradation and accumulation of substrates.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported; overexpression in tumors may act as a dominant effect.
Dominant Negative (DN)
Mutations that disrupt dimerization or E3 interaction could interfere with wild-type UBE2H function, but no confirmed dominant-negative variants are documented.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin conjugating enzyme activity (GO:0061631) | • ubiquitin-protein transferase activity (GO:0004842) |
| • protein ubiquitination (GO:0016567) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• Protein processing in endoplasmic reticulum (KEGG hsa04141)
• p53 signaling pathway (KEGG hsa04115)
Protein Summary
UBE2H is a 183-amino acid ubiquitin-conjugating enzyme (E2) with a conserved UBC domain. It accepts ubiquitin from E1 enzymes via a thioester linkage at active site Cys85 and transfers it to substrate-bound E3 ligases. The protein is predominantly cytoplasmic but can shuttle to the nucleus. UBE2H interacts with multiple E3 ligases (e.g., NEDD4, MDM2) and is involved in degradation of key regulatory proteins. Its expression is ubiquitous with highest levels in testis and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2H Knockout HEK293 Cell Line | EDJ-KQ3845 | Human | 7328 | Details Get a Quote |
| UBE2H Knockout A-549 Cell Line | EDJ-KQ26013 | Human | 7328 | Details Get a Quote |
| UBE2H Knockout HCT 116 Cell Line | EDJ-KQ26014 | Human | 7328 | Details Get a Quote |
| UBE2H Knockout HeLa Cell Line | EDJ-KQ26015 | Human | 7328 | Details Get a Quote |
| UBE2H Knockout HAP1 Cell Line | EDC08054 | Human | 7328 | Details Get a Quote |
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