Gene Gene information from NCBI Gene database.
Entrez ID 51020
Gene name HD domain containing 2
Gene symbol HDDC2
Synonyms (NCBI Gene)
C6orf74CGI-130NS5ATP2dJ167O5.2
Chromosome 6
Chromosome location 6q22.31
miRNA miRNA information provided by mirtarbase database.
206
miRTarBase ID miRNA Experiments Reference
MIRT048783 hsa-miR-93-5p CLASH 23622248
MIRT036945 hsa-miR-877-3p CLASH 23622248
MIRT549530 hsa-miR-32-3p PAR-CLIP 20371350
MIRT549528 hsa-miR-6758-5p PAR-CLIP 20371350
MIRT549527 hsa-miR-6856-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0002953 Function 5'-deoxynucleotidase activity IBA
GO:0002953 Function 5'-deoxynucleotidase activity IEA
GO:0005515 Function Protein binding IPI 22190034, 32296183
GO:0009159 Process Deoxyribonucleoside monophosphate catabolic process IEA
GO:0016787 Function Hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z4H3
Protein name 5'-deoxynucleotidase HDDC2 (EC 3.1.3.89) (HD domain-containing protein 2) (Hepatitis C virus NS5A-transactivated protein 2) (HCV NS5A-transactivated protein 2)
Protein function Catalyzes the dephosphorylation of the nucleoside 5'-monophosphates deoxyadenosine monophosphate (dAMP), deoxycytidine monophosphate (dCMP), deoxyguanosine monophosphate (dGMP) and deoxythymidine monophosphate (dTMP). {ECO:0000250|UniProtKB:P531
PDB 4DMB , 4L1J , 4L7E , 4L7W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13023 HD_3 24 183 HD domain Domain
Sequence
Sequence length 204
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Purine metabolism
Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations