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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Gene SNPs 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 Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Esophageal atresia Likely pathogenic rs1311215973 RCV000984645
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta, type 18 Pathogenic rs1554200383, rs1187611948, rs1554200371 RCV000626325
RCV000626326
RCV000626327
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyloric stenosis Likely pathogenic rs1311215973 RCV000984645
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (21)
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
BONE FRACTURE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (30)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma of large intestine Colorectal adenoma BEFREE 16545789
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 26993346 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23593120
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 23593120 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 16545789
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease GWASCAT_DG 30104761
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis Arthritis BEFREE 25231575
★★★★★
★☆☆☆☆
Found in Text Mining only
Diffuse panbronchiolitis Diffuse Panbronchiolitis BEFREE 12185533
★★★★★
★☆☆☆☆
Found in Text Mining only