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

Gene ID: 6913, updated on 3-Apr-2024

Summary

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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
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Genomic context

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Location:
1p12
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (118883047..118989510, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (118896253..119002693, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (119425670..119532133, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene high density lipoprotein binding protein pseudogene Neighboring gene uncharacterized LOC107985447 Neighboring gene MPRA-validated peak393 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:119395269-119395890 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:119407731-119408930 Neighboring gene skeletal muscle cis-regulatory module in TBX15 intron Neighboring gene Sharpr-MPRA regulatory region 5383 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:119502746-119503360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:119527836-119528513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:119529833-119530366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:119530367-119530899 Neighboring gene uncharacterized LOC105378933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:119544270-119545093 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_115 Neighboring gene NANOG hESC enhancer GRCh37_chr1:119585151-119585652 Neighboring gene MPRA-validated peak395 silencer Neighboring gene WARS2 intronic transcript 1 Neighboring gene tryptophanyl tRNA synthetase 2, mitochondrial

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes. Pan DZ, et al. Genome Med, 2021 Aug 2. PMID 34340684, Free PMC Article
  2. Osteoporosis- and obesity-risk interrelationships: an epigenetic analysis of GWAS-derived SNPs at the developmental gene TBX15. Zhang X, et al. Epigenetics, 2020 Jun-Jul. PMID 31975641, Free PMC Article
  3. Novel antiapoptotic effect of TBX15: overexpression of TBX15 reduces apoptosis in cancer cells. Arribas J, et al. Apoptosis, 2015 Oct. PMID 26216026
  4. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. Dikoglu E, et al. Am J Med Genet A, 2013 Dec. PMID 24039145
  5. Harnessing tissue-specific genetic variation to dissect putative causal pathways between body mass index and cardiometabolic phenotypes. Leyden GM, et al. Am J Hum Genet, 2022 Feb 3. PMID 35090585, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The overexpression and clinical significance of TBX15 in human gliomas.
    Title: The overexpression and clinical significance of TBX15 in human gliomas.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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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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
Pelviscapular dysplasia
MedGen: C1850040 OMIM: 260660 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.
EBI GWAS Catalog
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
  
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of 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

  1. NG_013361.1 RefSeqGene

    Range
    6214..111510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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 ...

  2. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    118883047..118989510 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429138.1 → XP_047285094.1  T-box transcription factor TBX15 isoform X5

  2. XM_047429131.1 → XP_047285087.1  T-box transcription factor TBX15 isoform X2

  3. XM_047429124.1 → XP_047285080.1  T-box transcription factor TBX15 isoform X1

  4. 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 ...

  5. XM_047429135.1 → XP_047285091.1  T-box transcription factor TBX15 isoform X4

  6. XM_047429137.1 → XP_047285093.1  T-box transcription factor TBX15 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    118896253..119002693 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338519.1 → XP_054194494.1  T-box transcription factor TBX15 isoform X5

  2. XM_054338516.1 → XP_054194491.1  T-box transcription factor TBX15 isoform X3

  3. XM_054338517.1 → XP_054194492.1  T-box transcription factor TBX15 isoform X4

  4. XM_054338518.1 → XP_054194493.1  T-box transcription factor TBX15 isoform X4

  5. XM_054338520.1 → XP_054194495.1  T-box transcription factor TBX15 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96SF7.2 GenPept UniProtKB/Swiss-Prot:Q96SF7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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