TENT5A terminal nucleotidyltransferase 5A [Homo sapiens (human)] - Gene

Summary

Official Symbol: TENT5Aprovided by HGNC
Official Full Name: terminal nucleotidyltransferase 5Aprovided by HGNC
Primary source: HGNC:HGNC:18345
See related: Ensembl:ENSG00000112773 MIM:611357; AllianceGenome:HGNC:18345
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OI18; XTP11; FAM46A; C6orf37
Summary: Enables poly(A) RNA polymerase activity. Predicted to be involved in mRNA stabilization; positive regulation of bone mineralization; and positive regulation of osteoblast differentiation. Predicted to act upstream of or within response to bacterium. Predicted to be located in cytoplasm. Implicated in lung non-small cell carcinoma; osteoarthritis; and osteogenesis imperfecta type 18. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in bone marrow (RPKM 86.6), salivary gland (RPKM 24.3) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q14.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (81745730..81752681, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (82955095..82962045, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (82455447..82462398, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Genetic Variant of FAM46A is Associated With the Development of Adolescent Idiopathic Scoliosis in the Chinese Population.
Title: A Genetic Variant of FAM46A is Associated With the Development of Adolescent Idiopathic Scoliosis in the Chinese Population.
Tent5a modulates muscle fiber formation in adolescent idiopathic scoliosis via maintenance of myogenin expression.
Title: Tent5a modulates muscle fiber formation in adolescent idiopathic scoliosis via maintenance of myogenin expression.
FAM46A expression is elevated in glioblastoma and predicts poor prognosis of patients.
Title: FAM46A expression is elevated in glioblastoma and predicts poor prognosis of patients.
We conclude that FAM46A mutations are responsible for a severe form of osteogenesis imperfecta (OI) with congenital bowing of the lower limbs and suggest screening this gene in unexplained OI forms.
Title: FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
By functional analysis based on a set of 1129 proteins from 494 obese subjects study identified and validated FAM46A as a trans regulator for leptin.
Title: Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator.
This exploratory genome-wide association studies confirmed APOE and identified the novel loci: rs72907046 near FAM46A (P = 1 x 10(-9) OR = 3.2 [2.1-4.9]).
Title: Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.
VNTR in the coding region of the FAM46A gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP are associated with susceptibility to tuberculosis
Title: Association 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.
Genotype frequencies of cd (four and five VNTR repeats) and cc (four VNTR repeats homozygote) of the FAM46A gene were significantly decreased in the patients compared to the healthy controls in the Croatian and Norwegian subjects
Title: Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell lung cancer (NSCLC) in Croatian and Norwegian populations.
Susceptibility 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.
Title: Susceptibility 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.
Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterization of novel VNTRs is reported.
Title: Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteogenesis imperfecta, type 18 MedGen: C4693736 OMIM: 617952 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A008J23 (e-PCR)
- UniSTS:56331

RH46837 (e-PCR)
- UniSTS:15416

RH18551 (e-PCR)
- UniSTS:1884

D6S1495 (e-PCR)
- UniSTS:37750

RH1517 (e-PCR)
- UniSTS:64377

WI-18234 (e-PCR)
- UniSTS:6525

RH45697 (e-PCR)
- UniSTS:35292

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables poly(A) RNA polymerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables poly(A) RNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA stabilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of ossification	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: terminal nucleotidyltransferase 5A

Names: HBV X-transactivated gene 11 protein; HBV XAg-transactivated protein 11; family with sequence similarity 46 member A; protein FAM46A; putative nucleotidyltransferase FAM46A; retinal expressed gene C6orf37

NP_060103.2

EC 2.7.7.19

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.