TENT5D (terminal nucleotidyltransferase 5D)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 169966
Gene name Terminal nucleotidyltransferase 5D
Gene symbol TENT5D
Synonyms (NCBI Gene)
CT1.26CT112FAM46D
Chromosome X
Chromosome location Xq21.1
Summary Antibodies against the protein encoded by this gene were found only in plasma from cancer patients. While it may be a target for immunotherapy, the function of this gene is unknown. [provided by RefSeq, Dec 2009]
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0016740 Function Transferase activity IEA
GO:0016779 Function Nucleotidyltransferase activity IEA
GO:0048255 Process MRNA stabilization IBA
GO:1990817 Function Poly(A) RNA polymerase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300976 28399 ENSG00000174016
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NEK8
Protein name Terminal nucleotidyltransferase 5D (EC 2.7.7.19) (Non-canonical poly(A) polymerase FAM46D)
Protein function Catalyzes the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3'-OH terminal group.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07984 NTP_transf_7 9 → 328 Nucleotidyltransferase Domain
Tissue specificity TISSUE SPECIFICITY: restricted to testis. {ECO:0000269|PubMed:19540335}.
Sequence
Sequence length 389
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
CONGENITAL HEART DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Melanoma Melanoma Pubtator 27060136 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma BEFREE 27060136
★★★★★
★☆☆☆☆
Found in Text Mining only
Testicular Neoplasms Testicular neoplasm Pubtator 19540335 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only