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

Gene ID: 9496, updated on 3-Jul-2016
Official Symbol
TBX4provided by HGNC
Official Full Name
T-box 4provided by HGNC
Primary source
HGNC:HGNC:11603
See related
Ensembl:ENSG00000121075 HPRD:03424; MIM:601719; Vega:OTTHUMG00000180078
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
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]
Orthologs
Location:
17q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (61452418..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 chromosome 17 open reading frame 82 Neighboring gene T-box 2 Neighboring gene nascent polypeptide associated complex alpha subunit 2 Neighboring gene BRCA1 interacting protein C-terminal helicase 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Ischiopatellar dysplasia
MedGen: C1840061 OMIM: 147891 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-02-28)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2013-02-28)

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
transcription factor activity, sequence-specific DNA binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
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 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
T-box transcription factor TBX4
Names
T-box protein 4

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
    5043..33665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    BC142620, CA428890
    UniProtKB/Swiss-Prot
    P57082
    Related
    ENSP00000377435, OTTHUMP00000263282, ENST00000393853, OTTHUMT00000449648
    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, OTTHUMP00000263283, ENST00000240335, OTTHUMT00000449649
    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 Annotation Release 108 details...

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

    Range
    61452418..61485110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525495.2XP_011523797.1  

    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  

    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  

    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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    59594278..59626976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)