TENT5A (terminal nucleotidyltransferase 5A)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55603
Gene name Gene Name - the full gene name approved by the HGNC.
Terminal nucleotidyltransferase 5A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TENT5A
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf37, FAM46A, OI18, XTP11
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q14.1
SNPs SNP information provided by dbSNP.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611357 18345 ENSG00000112773
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Osteogenesis Imperfecta Osteogenesis imperfecta, type 18 rs1554200371, rs1554200383, rs1187611948 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast cancer Breast cancer N/A N/A GWAS
Breast Cancer Breast cancer (estrogen-receptor negative) N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease 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