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

Gene ID: 6913, updated on 17-Sep-2022

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
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Genomic context

See TBX15 in Genome Data Viewer
Location:
1p12
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (118883047..118989510, complement)
110 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 skeletal muscle cis-regulatory module in TBX15 intron Neighboring gene Sharpr-MPRA regulatory region 5383 Neighboring gene uncharacterized LOC105378933 Neighboring gene WARS2 intronic transcript 1 Neighboring gene tryptophanyl tRNA synthetase 2, mitochondrial

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Component Evidence Code Pubs
part_of RNA polymerase II transcription repressor complex IEA
Inferred from Electronic Annotation
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

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_001330677.2NP_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
    Q5T9S7, Q96SF7
    Related
    ENSP00000358437.3, ENST00000369429.5
    Conserved Domains (1) summary
    cd00182
    Location:113308
    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_152380.3NP_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:1198
    T-box_TBX15-like; DNA-binding domain of T-box transcription factor 15 and related T-box proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047429138.1XP_047285094.1  T-box transcription factor TBX15 isoform X5

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

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

  4. XM_005271161.5XP_005271218.1  T-box transcription factor TBX15 isoform X3

    Conserved Domains (1) summary
    cd00182
    Location:113308
    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_047429135.1XP_047285091.1  T-box transcription factor TBX15 isoform X4

  6. XM_047429137.1XP_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)