Gene Gene information from NCBI Gene database.
Entrez ID 143279
Gene name HECT domain E3 ubiquitin protein ligase 2
Gene symbol HECTD2
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10q23.32
miRNA miRNA information provided by mirtarbase database.
444
miRTarBase ID miRNA Experiments Reference
MIRT018117 hsa-miR-335-5p Microarray 18185580
MIRT019625 hsa-miR-340-5p Sequencing 20371350
MIRT024205 hsa-miR-221-3p Sequencing 20371350
MIRT024252 hsa-miR-218-5p Sequencing 20371350
MIRT024205 hsa-miR-221-3p Luciferase reporter assayQRTPCRWestern blot 23770851
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IEA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005829 Component Cytosol TAS
GO:0016567 Process Protein ubiquitination IEA
GO:0016740 Function Transferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620876 26736 ENSG00000165338
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5U5R9
Protein name Probable E3 ubiquitin-protein ligase HECTD2 (EC 2.3.2.26) (HECT domain-containing protein 2) (HECT-type E3 ubiquitin transferase HECTD2)
Protein function E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. ; (Microbial infecti
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00632 HECT 466 776 HECT-domain (ubiquitin-transferase) Domain
Sequence
MSEAVRVPSPATPLVVAAPAPEERKGKESEREKLPPIVSAGAGATAGLDRGAKGQISTFS
SFISAVSPKKEAAENRSSPAHLVFPNIKNVREPPPICLDVRQKQRTSMDASSSEMKAPVL
PEPILPIQPKTVKDFQEDVEKVKSSGDWKAVHDFYLTTFDSFPELNAAFKKDATASFNTI
EDSGINAKFVNAVYDTLLNTPQDVQKTVLKGIINSLLREWKGPRTKDDLRAYFILLQNPQ
FNNTSTYVIYAHLLRQIATLVEADHHFLVHWFKKLSQKRFKQLVERLLQFISLRLFPAKP
EEFPPITKCSWWIPSAAKVLALLNTANNLVHPPLIPYTDFYNSTLDHIDLMEEYHTWQNF
GNSHRFSFCQYPFVISVAAKKIIIQRDSEQQMINIARQSLVDKVSRRQRPDMNILFLNMK
VRRTHLVSDSLDELTRKRADLKKKLKVTFVGEAGLDMGGLTKEWFLLLIRQIFHPDYGMF
TYHKDSHCHWFSSFKCDNYSEFRLVGILMGLAVYNSITLDIRFPPCCYKKLLSPPIIPSD
QNIPVGICNVTVDDLCQIMPELAHGLSELLSHEGNVEEDFYSTFQVFQEEFGIIKSYNLK
PGGDKISVTNQNRKEYVQLYTDFLLNKSIYKQFAAFYYGFHSVCASNALMLLRPEEVEIL
VCGSPDLDMHALQRSTQYDGYAKTDLTIKYFWDVVLGFPLDLQKKLLHFTTGSDRVPVGG
MADLNFKISKNETSTNCLPVAHTCFNQLCLPPYKSKKDLKQKLIIGISNSEGFGLE
Sequence length 776
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
IDIOPATHIC PULMONARY FIBROSIS GWAS catalog
★★☆☆☆
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
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 19754925
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34972816 Associate
★☆☆☆☆
Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic Creutzfeldt-Jakob disease BEFREE 21335971
★☆☆☆☆
Found in Text Mining only
Prion Diseases Prion disease Pubtator 19754925 Associate
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 23770851, 37298233 Associate
★☆☆☆☆
Found in Text Mining only