TBX15 T-box transcription factor 15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBX15provided by HGNC
Official Full Name: T-box transcription factor 15provided by HGNC
Primary source: HGNC:HGNC:11594
See related: Ensembl:ENSG00000092607 MIM:604127; AllianceGenome:HGNC:11594
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TBX14
Summary: This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]
Expression: Biased expression in fat (RPKM 11.5), liver (RPKM 10.7) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p12

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (118883047..118989510, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (118896253..119002693, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (119425670..119532133, complement)

Chromosome 1 - NC_000001.11 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?

The overexpression and clinical significance of TBX15 in human gliomas.
Title: The overexpression and clinical significance of TBX15 in human gliomas.
miR-4732-3p prevents lung cancer progression via inhibition of the TBX15/TNFSF11 axis.
Title: miR-4732-3p prevents lung cancer progression via inhibition of the TBX15/TNFSF11 axis.
Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia.
Title: Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia.
Harnessing tissue-specific genetic variation to dissect putative causal pathways between body mass index and cardiometabolic phenotypes.
Title: Harnessing tissue-specific genetic variation to dissect putative causal pathways between body mass index and cardiometabolic phenotypes.
Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes.
Title: Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes.
TBX15 rs98422, DNM3 rs1011731, RAD51B rs8017304, and rs2588809 Gene Polymorphisms and Associations With Pituitary Adenoma.
Title: TBX15 rs98422, DNM3 rs1011731, RAD51B rs8017304, and rs2588809 Gene Polymorphisms and Associations With Pituitary Adenoma.
Osteoporosis- and obesity-risk interrelationships: an epigenetic analysis of GWAS-derived SNPs at the developmental gene TBX15.
Title: Osteoporosis- and obesity-risk interrelationships: an epigenetic analysis of GWAS-derived SNPs at the developmental gene TBX15.
CircPVT1 promotes progression in clear cell renal cell carcinoma by sponging miR-145-5p and regulating TBX15 expression.
Title: CircPVT1 promotes progression in clear cell renal cell carcinoma by sponging miR-145-5p and regulating TBX15 expression.
These studies showed that Tbx15 differentially regulates oxidative and glycolytic metabolism within subpopulations of white adipocytes and preadipocytes.
Title: Tbx15 Defines a Glycolytic Subpopulation and White Adipocyte Heterogeneity.
first genome-wide scan for selection in Inuit from Greenland. A region, with a deeply divergent haplotype that is closely related to the sequence in the Denisovan genome contains two genes, WARS2 and TBX15. our study suggests a complex multi-factorial regulation of TBX15 and WARS2. We show that the introgressed region is associated with regional changes in methylation and expression levels
Title: Archaic Adaptive Introgression in TBX15/WARS2.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pelviscapular dysplasia MedGen: C1850040 OMIM: 260660 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-142585 (e-PCR)
- UniSTS:171536

MARC_16759-16760:1020873220:1 (e-PCR)
- UniSTS:268103

SHGC-75396 (e-PCR)
- UniSTS:53583

RH122292 (e-PCR)
- UniSTS:137819

SHGC-53876 (e-PCR)
- UniSTS:78195

G62857 (e-PCR)
- UniSTS:139982

SHGC-81722 (e-PCR)
- UniSTS:103899

AL033752 (e-PCR)
- UniSTS:93932

AL033812 (e-PCR)
- UniSTS:93677

AL033622 (e-PCR)
- UniSTS:93433

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic cranial skeleton morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription repressor complex	IEA Inferred from Electronic Annotation more info
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: T-box transcription factor TBX15

Names: T-box 14; T-box 15; T-box protein 14; T-box protein 15; T-box transcription factor TBX14

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.

Genomic

NG_013361.1 RefSeqGene

Range

6214..111510

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001330677.2 → NP_001317606.1 T-box transcription factor TBX15 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL139420, AL357045

Consensus CDS

CCDS81360.1

UniProtKB/Swiss-Prot

Q08E76, Q5JT54, Q5T9S7, Q96SF7

Related

ENSP00000358437.3, ENST00000369429.5

Conserved Domains (1) summary

cd00182
Location:113 → 308

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
NM_152380.3 → NP_689593.2 T-box transcription factor TBX15 isoform 2

See identical proteins and their annotated locations for NP_689593.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AK096396, AK127536

Consensus CDS

CCDS30816.1

UniProtKB/Swiss-Prot

Q96SF7

UniProtKB/TrEMBL

Q8N8P2

Related

ENSP00000207157.3, ENST00000207157.7

Conserved Domains (1) summary

cd20198
Location:1 → 198

T-box_TBX15-like; DNA-binding domain of T-box transcription factor 15 and related T-box proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

118883047..118989510 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047429138.1 → XP_047285094.1 T-box transcription factor TBX15 isoform X5
XM_047429131.1 → XP_047285087.1 T-box transcription factor TBX15 isoform X2
XM_047429124.1 → XP_047285080.1 T-box transcription factor TBX15 isoform X1
XM_005271161.5 → XP_005271218.1 T-box transcription factor TBX15 isoform X3

Conserved Domains (1) summary

cd00182
Location:113 → 308

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
XM_047429135.1 → XP_047285091.1 T-box transcription factor TBX15 isoform X4
XM_047429137.1 → XP_047285093.1 T-box transcription factor TBX15 isoform X4