TENT5A (terminal nucleotidyltransferase 5A)

2018-07-01  

Identity

HGNC
LOCATION
6q14.1
LOCUSID
ALIAS
C6orf37,FAM46A,OI18,XTP11

Other Information

Locus ID:

NCBI: 55603
MIM: 611357
HGNC: 18345
Ensembl: ENSG00000112773

Variants:

dbSNP: 55603
ClinVar: 55603
TCGA: ENSG00000112773
COSMIC: TENT5A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112773ENST00000320172Q96IP4
ENSG00000112773ENST00000369754Q96IP4
ENSG00000112773ENST00000369756Q5TF85
ENSG00000112773ENST00000412306H0Y5Y3
ENSG00000112773ENST00000423467H0Y6D7

References

Pubmed IDYearTitleCitations
371414602023A Genetic Variant of FAM46A is Associated With the Development of Adolescent Idiopathic Scoliosis in the Chinese Population.0
371414602023A Genetic Variant of FAM46A is Associated With the Development of Adolescent Idiopathic Scoliosis in the Chinese Population.0
351374852022Tent5a modulates muscle fiber formation in adolescent idiopathic scoliosis via maintenance of myogenin expression.6
351374852022Tent5a modulates muscle fiber formation in adolescent idiopathic scoliosis via maintenance of myogenin expression.6
333706262021FAM46A expression is elevated in glioblastoma and predicts poor prognosis of patients.4
333706262021FAM46A expression is elevated in glioblastoma and predicts poor prognosis of patients.4
293582722018FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.31
293582722018FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.31
292340172017Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator.34
292340172017Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator.34
269933462016Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.58
269933462016Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.58
252315752015Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6.10
258844932015Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell lung cancer (NSCLC) in Croatian and Norwegian populations.18
252315752015Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6.10

Citation

Dessen P

TENT5A (terminal nucleotidyltransferase 5A)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57547/css/js/lib/jquery-3.5.1.min.js