Gene Gene information from NCBI Gene database.
Entrez ID 3093
Gene name Ubiquitin conjugating enzyme E2 K
Gene symbol UBE2K
Synonyms (NCBI Gene)
E2-25KHIP2HYPGLIGUBC1
Chromosome 4
Chromosome location 4p14
Summary The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington`s disease. Known functions for this protein include
miRNA miRNA information provided by mirtarbase database.
566
miRTarBase ID miRNA Experiments Reference
MIRT023304 hsa-miR-122-5p Proteomics 21750653
MIRT029298 hsa-miR-26b-5p Microarray 19088304
MIRT044916 hsa-miR-186-5p CLASH 23622248
MIRT256046 hsa-miR-24-3p PAR-CLIP 20371350
MIRT256050 hsa-miR-4485-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
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
602846 4914 ENSG00000078140
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61086
Protein name Ubiquitin-conjugating enzyme E2 K (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme K) (Huntingtin-interacting protein 2) (HIP-2) (Ubiquitin carrier protein) (Ubiquitin-conjugating enzyme E2-25 kDa) (Ubiquitin-conjugating enzyme E2(25K)) (Ubiquitin-conjugati
Protein function Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro, in the presence or in the absence of BRCA1-BARD1 E3 ubiquitin-protein ligase complex, catalyzes the synthesis of 'Lys-48'-linked polyubiquit
PDB 1YLA , 2O25 , 3E46 , 3F92 , 3K9O , 3K9P , 5DFL , 6IF1 , 6JB6 , 6JB7 , 7MYF , 7MYH , 7OJX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00179 UQ_con 8 149 Ubiquitin-conjugating enzyme Domain
PF00627 UBA 161 197 UBA/TS-N domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested, including spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocytes, T-lymphocytes, monocytes, granulocytes and bone marrow mononuclear cells. Highly expressed in brai
Sequence
Sequence length 200
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.).
6
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOCRINE SYSTEM DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FEMALE INFERTILITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 37549144
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Angelman Syndrome Associate 18193166
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Associate 33308194
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Associate 23495136
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 18326623
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 20452352
★☆☆☆☆
Found in Text Mining only
Chromosome Aberrations Associate 11078524
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 30804124
★☆☆☆☆
Found in Text Mining only
Glioma Associate 32271436
★☆☆☆☆
Found in Text Mining only
Huntington Disease Associate 33049985
★☆☆☆☆
Found in Text Mining only