TENT5A (terminal nucleotidyltransferase 5A)

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Gene Gene information from NCBI Gene database.
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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
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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 Show/Hide all (17)
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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.
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MIM HGNC e!Ensembl
611357 18345 ENSG00000112773
Protein Protein information from UniProt database.
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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 
MAEGEGYFAMSEDELACSPYIPLGGDFGGGDFGGGDFGGGDFGGGGSFGGHCLDYCESPT
AHCNVLNWEQVQRLDGILSETIPIHGRGNFPTLELQPSLIVKVVRRRLAEKRIGVRDVRL
NGSAASHVLHQDSGLGYKDLDLIFCADLRGEGEFQTVKDVVLDCLLDFLPEGVNKEKITP
LTLKEAYVQKMVKVCNDSDRWSLISLSNNSGKNVELKFVDSLRRQFEFSVDSFQIKLDSL
LLFYECSENPMTETFHPTIIGESVYGDFQEAFDHLCNKIIATRNPEEIRGGGLLKYCNLL
VRGFRPASDEIKTLQRYMCSRFFIDFSDIGEQQRKLESYLQNHFVGLEDRKYEYLMTLHG
VVNESTVCLMGHERRQTLNLITMLAIRVLADQNVIPNVANVTCYYQPAPYVADANFSNYY
IAQVQPVFTCQQQTYSTWLPCN
Sequence length 442
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
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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)
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)
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.
Show/Hide Unknown Diseases (21)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 26993346
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRACTURE — GWAS catalog 37919453
★★★★★
★★☆☆☆
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 22976474, 23535729, 23535733, 25751625, 29059683, 32139696, 32887889, 37340002
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 22976474, 23535729, 23535733, 25751625, 29058716, 29059683, 32139696, 32887889, 37340002
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (30)
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
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P3H1 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome 7 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), GWAS catalog (Osteogenesis imperfecta), Disgenet (Osteogenesis imperfecta), ClinVar (Osteogenesis imperfecta), Orphanet (Osteogenesis imperfecta), HPO (Osteogenesis imperfecta), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta — evidence mostly CTD. PPIB 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome 7 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), GWAS catalog (Osteogenesis imperfecta), Disgenet (Osteogenesis imperfecta), ClinVar (Osteogenesis imperfecta), Orphanet (Osteogenesis imperfecta), HPO (Osteogenesis imperfecta), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta — evidence mostly CTD. MESD 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome 6 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), Disgenet (Osteogenesis imperfecta), ClinVar (Osteogenesis imperfecta), Orphanet (Osteogenesis imperfecta), HPO (Osteogenesis imperfecta), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta — evidence mostly CTD. IFITM5 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome 7 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), GWAS catalog (Osteogenesis imperfecta), Disgenet (Osteogenesis imperfecta), ClinVar (Osteogenesis imperfecta), Orphanet (Osteogenesis imperfecta), HPO (Osteogenesis imperfecta), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta — evidence mostly CTD. TMEM38B 3 shared diseasesBone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome 6 shared evidence sourcesCTD (Bone fragility with contractures, arterial rupture, and deafness), Disgenet (Osteogenesis imperfecta), ClinVar (Osteogenesis imperfecta), Orphanet (Osteogenesis imperfecta), HPO (Osteogenesis imperfecta), CTD (Osteoporosis-pseudoglioma syndrome) Related via 3 shared diseases including Bone fragility with contractures, arterial rupture, and deafness, Osteogenesis imperfecta — evidence mostly CTD.
Osteoporosis Linked via 1 of 5 related genesIFITM5 Atypical femoral fracture Linked via 1 of 5 related genesTMEM38B Autism Linked via 1 of 5 related genesTMEM38B Schizophrenia Linked via 1 of 5 related genesTMEM38B