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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBE2H
ubiquitin conjugating enzyme E2 H
Chromosome 7 · 7q32.2
NCBI Gene: 7328Ensembl: ENSG00000186591.13HGNC: HGNC:12484UniProt: A0A3B3IU20
83PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin-protein transferase activityprotein K48-linked ubiquitinationprotein K11-linked ubiquitinationneurodegenerative diseaseVaricose veinskidney failuregastric cancer
✦AI Summary

UBE2H is an E2 ubiquitin-conjugating enzyme that accepts ubiquitin from E1 complexes and catalyzes its covalent attachment to target proteins 1. The enzyme specifically partners with the GID/CTLH E3 ubiquitin ligase complex, with this E2-E3 pairing regulated by multisite phosphorylation of UBE2H at CK2-targeted acidic sequences that anchor to basic patches on the E3 complex 2. UBE2H is capable of catalyzing both K11- and K48-linked polyubiquitination in vitro and can ubiquitinate substrates including focal adhesion kinase (FAK) during skeletal myogenesis 1. The UBE2H-CTLH complex plays crucial roles in erythroid maturation, where dynamic expression changes control orderly progression of human erythropoiesis, and in antimicrobial defense, where the complex suppresses host responses against intracellular bacterial infections like Mycobacterium tuberculosis 34. Clinically, UBE2H mutations are associated with neurodevelopmental disorders - a de novo missense variant (p.Thr150Met) was identified in a patient with developmental delay and intractable seizures, and zebrafish studies confirmed UBE2H's essential role in normal brain development through regulation of the ATM-p53 signaling pathway 5. Additionally, genetic association studies suggest UBE2H may contribute to autism susceptibility and oxaliplatin resistance in colorectal cancer 67.

Sources cited
1
UBE2H is an E2 ubiquitin-conjugating enzyme that partners with MG53 E3 ligase to ubiquitinate FAK during skeletal myogenesis
PMID: 24344130
2
UBE2H specifically partners with GID/CTLH E3 complex through multisite phosphorylation-dependent interactions
PMID: 38113892
3
UBE2H-CTLH complexes regulate erythroid maturation through dynamic stage-specific expression changes
PMID: 36459484
4
GID/CTLH complex including UBE2H suppresses host antimicrobial responses against intracellular bacterial infections
PMID: 39472457
5
De novo UBE2H mutation (p.Thr150Met) causes developmental delay and UBE2H is essential for normal brain development
PMID: 37208785
6
UBE2H genetic variants are associated with autism susceptibility
PMID: 14639049
7
UBE2H expression is associated with oxaliplatin resistance in colorectal cancer
PMID: 41174727
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
Varicose veinsOpen Targets
0.40Weak
kidney failureOpen Targets
0.33Weak
gastric cancerOpen Targets
0.32Weak
vascular diseaseOpen Targets
0.30Weak
vein disorderOpen Targets
0.29Weak
intestinal diseaseOpen Targets
0.29Weak
lymphatic system diseaseOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.25Weak
systemic lupus erythematosusOpen Targets
0.24Weak
lysosomal storage diseaseOpen Targets
0.24Weak
autoimmune disorder of musculoskeletal systemOpen Targets
0.23Weak
Increased total eosinophil countOpen Targets
0.09Suggestive
neuroendocrine neoplasmOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
connective tissue neoplasmOpen Targets
0.06Suggestive
colorectal cancerOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
placenta praeviaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WDR26Protein interaction86%MARCHF8Protein interaction86%UBA3Protein interaction85%TRIM72Protein interaction82%ARMC8Protein interaction78%MARCHF4Protein interaction77%
Tissue Expression6 tissues
Heart
100%
Brain
74%
Lung
53%
Ovary
45%
Bone Marrow
36%
Liver
34%
Gene Interaction Network
Click a node to explore
UBE2HWDR26MARCHF8UBA3TRIM72ARMC8MARCHF4
PROTEIN STRUCTURE
Preparing viewer…
PDB2Z5D · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.24Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.08 [0.03–0.24]
RankingsWhere UBE2H stands among ~20K protein-coding genes
  • #5,763of 20,598
    Most Researched83
  • #729of 17,882
    Most Constrained (LOEUF)0.24 · top 5%
Genes detectedUBE2H
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder.
PMID: 14639049
Psychiatr Genet · 2003
1.00
2
Genome-wide screen of Mycobacterium tuberculosis-infected macrophages revealed GID/CTLH complex-mediated modulation of bacterial growth.
PMID: 39472457
Nat Commun · 2024
0.90
3
Modular UBE2H-CTLH E2-E3 complexes regulate erythroid maturation.
PMID: 36459484
Elife · 2022
0.80
4
Multisite phosphorylation dictates selective E2-E3 pairing as revealed by Ubc8/UBE2H-GID/CTLH assemblies.
PMID: 38113892
Mol Cell · 2024
0.70
5
RNF186 regulates EFNB1 (ephrin B1)-EPHB2-induced autophagy in the colonic epithelial cells for the maintenance of intestinal homeostasis.
PMID: 33280498
Autophagy · 2021
0.60