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
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
269933462016Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.28
178037232008Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.16
120546082002Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14.14
292340172017Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator.10
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 6.9
258844932015Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell lung cancer (NSCLC) in Croatian and Norwegian populations.9
293582722018FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.7
246259632014Association of variable number of tandem repeats in the coding region of the FAM46A gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with susceptibility to tuberculosis.6
165457892006Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population.4

Citation

Dessen P

TENT5A (terminal nucleotidyltransferase 5A)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57547/tent5a