Gene Gene information from NCBI Gene database.
Entrez ID 7328
Gene name Ubiquitin conjugating enzyme E2 H
Gene symbol UBE2H
Synonyms (NCBI Gene)
E2-20KGID3UBC8UBCHUBCH2
Chromosome 7
Chromosome location 7q32.2
Summary The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conju
miRNA miRNA information provided by mirtarbase database.
1012
miRTarBase ID miRNA Experiments Reference
MIRT016629 hsa-miR-451a Microarray 20218812
MIRT020674 hsa-miR-155-5p Proteomics 18668040
MIRT028404 hsa-miR-30a-5p Proteomics 18668040
MIRT051591 hsa-let-7e-5p CLASH 23622248
MIRT049032 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000209 Process Protein polyubiquitination IBA
GO:0000209 Process Protein polyubiquitination IEA
GO:0004842 Function Ubiquitin-protein transferase activity IDA 20061386
GO:0004842 Function Ubiquitin-protein transferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601082 12484 ENSG00000186591
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62256
Protein name Ubiquitin-conjugating enzyme E2 H (EC 2.3.2.23) ((E3-independent) E2 ubiquitin-conjugating enzyme H) (EC 2.3.2.24) (E2 ubiquitin-conjugating enzyme H) (UbcH2) (Ubiquitin carrier protein H) (Ubiquitin-conjugating enzyme E2-20K) (Ubiquitin-protein ligase H)
Protein function Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:17588522, PubMed:20061386, PubMed:8132613). E2 ubiquitin conjugating enzyme that transfers ubiquitin to MAEA, a core component of the CTLH E3 u
PDB 2Z5D , 8PJN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00179 UQ_con 9 145 Ubiquitin-conjugating enzyme Domain
Sequence
Sequence length 183
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis   Synthesis of active ubiquitin: roles of E1 and E2 enzymes
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UBE2H-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 19922136
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 14639049
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism LHGDN 14639049
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism CTD_human_DG 14639049
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Colorectal neoplasm Pubtator 34373442 Associate
★☆☆☆☆
Found in Text Mining only
Dementia Dementia BEFREE 20878216
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 19234449
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 19234449
★☆☆☆☆
Found in Text Mining only
Polycystic Ovary Syndrome Polycystic Ovary Syndrome CTD_human_DG 21411543
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Presenile dementia Senile Dementia BEFREE 20878216
★☆☆☆☆
Found in Text Mining only