TENT5A (terminal nucleotidyltransferase 5A)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 55603
Gene name Terminal nucleotidyltransferase 5A
Gene symbol TENT5A
Synonyms (NCBI Gene)
C6orf37FAM46AOI18XTP11
Chromosome 6
Chromosome location 6q14.1
SNPs SNP information provided by dbSNP.
4
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs1187611948 T>C,G Pathogenic Coding sequence variant, missense variant
rs1311215973 G>A,C Likely-pathogenic Coding sequence variant, missense variant
rs1554200371 T>C Pathogenic Missense variant, coding sequence variant
rs1554200383 ->TA Pathogenic Coding sequence variant, frameshift variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 16713569, 23275563, 25814554, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
GO:0009617 Process Response to bacterium IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611357 18345 ENSG00000112773
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96IP4
Protein name Terminal nucleotidyltransferase 5A (EC 2.7.7.19) (HBV X-transactivated gene 11 protein) (HBV XAg-transactivated protein 11)
Protein function Cytoplasmic non-canonical poly(A) RNA polymerase that catalyzes the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3'-OH terminal group and participates in the cytoplasmic polyadenylation (PubMed:33882302). Poly
PDB 8EXE , 8EXF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07984 NTP_transf_7 66 → 384 Nucleotidyltransferase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with preferential expression observed in the retina compared to other ocular tissues (PubMed:12054608). Also expressed in osteoblasts (PubMed:29358272). {ECO:0000269|PubMed:12054608, ECO:0000269|PubMed:29358272}.
Sequence
Sequence length 442
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Esophageal atresia Likely pathogenic rs1311215973 RCV000984645
Osteogenesis imperfecta, type 18 Pathogenic rs1554200383, rs1187611948, rs1554200371 RCV000626325
RCV000626326
RCV000626327
Pyloric stenosis Likely pathogenic rs1311215973 RCV000984645
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TENT5A-related disorder Benign; Uncertain significance; Likely benign rs145308758, rs754008809, rs144803443, rs148802326 RCV003971202
RCV003916395
RCV003955917
RCV003923300
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrophy Associate 26993346
Breast Neoplasms Associate 23593120
Carcinoma Non Small Cell Lung Associate 25884493
Glioma Associate 31761927
Knee Injuries Associate 25231575
Melanoma Associate 27060136
Muscular Dystrophy Duchenne Associate 37141460
Neoplasms Associate 31761927
Osteoarthritis Associate 25231575