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TBX4 T-box transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 9496, updated on 4-Jun-2020

Summary

Official Symbol
TBX4provided by HGNC
Official Full Name
T-box transcription factor 4provided by HGNC
Primary source
HGNC:HGNC:11603
See related
Ensembl:ENSG00000121075 MIM:601719
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
SPS; ICPPS; PAPPAS
Summary
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]
Expression
Biased expression in lung (RPKM 16.7), placenta (RPKM 12.0) and 2 other tissues See more
Orthologs

Genomic context

See TBX4 in Genome Data Viewer
Location:
17q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (61452422..61485110)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (59529134..59562471)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TBX2 promoter region Neighboring gene long intergenic non-protein coding RNA 2875 Neighboring gene T-box transcription factor 2 Neighboring gene nascent polypeptide associated complex subunit alpha 2 Neighboring gene BRCA1 interacting protein C-terminal helicase 1 Neighboring gene VISTA enhancer hs778

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
Amelia, autosomal recessive
MedGen: C1832432 OMIM: 601360 GeneReviews: Not available
not available
Coxopodopatellar syndrome
MedGen: C1840061 OMIM: 147891 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2019-12-11)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2019-12-11)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Identification of 15 loci influencing height in a Korean population.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryonic hindlimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic limb morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryonic lung development IMP
Inferred from Mutant Phenotype
more info
PubMed 
limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
lung development IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of an epithelium IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
T-box transcription factor TBX4
Names
T-box 4
T-box protein 4

NCBI Reference Sequences (RefSeq)

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_008080.1 RefSeqGene

    Range
    977..33665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1206

mRNA and Protein(s)

  1. NM_001321120.2NP_001308049.1  T-box transcription factor TBX4 isoform 1

    Status: REVIEWED

    Source sequence(s)
    BC142620, CA428890
    Consensus CDS
    CCDS82180.1
    UniProtKB/Swiss-Prot
    P57082
    Related
    ENSP00000495986.1, ENST00000644296.1
    Conserved Domains (1) summary
    cd00182
    Location:66255
    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_018488.3NP_060958.2  T-box transcription factor TBX4 isoform 2

    See identical proteins and their annotated locations for NP_060958.2

    Status: REVIEWED

    Source sequence(s)
    AF188703, BC136403, BC142620, CA428890
    Consensus CDS
    CCDS11629.1
    UniProtKB/Swiss-Prot
    P57082
    Related
    ENSP00000240335.1, ENST00000240335.1
    Conserved Domains (1) summary
    cd00182
    Location:66255
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    61452422..61485110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525495.2XP_011523797.1  T-box transcription factor TBX4 isoform X3

    Conserved Domains (1) summary
    cd00182
    Location:129318
    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. XM_011525490.2XP_011523792.1  T-box transcription factor TBX4 isoform X1

    Conserved Domains (1) summary
    cd00182
    Location:129318
    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 ...
  3. XM_011525491.2XP_011523793.1  T-box transcription factor TBX4 isoform X2

    Conserved Domains (1) summary
    cd00182
    Location:129318
    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 ...
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