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

Gene ID: 9496, updated on 16-Apr-2014
Official Symbol
TBX4provided by HGNC
Official Full Name
T-box 4provided by HGNC
Primary source
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
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]
Location :
17q21-q22
Sequence :
Chromosome: 17; NC_000017.11 (61451773..61485110)
See TBX4 in Epigenomics, MapViewer

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)

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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
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 
sequence-specific DNA binding transcription factor activity 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 organismal 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 transcription factor TBX4
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
    5001..32858
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018488.2NP_060958.2  T-box transcription factor TBX4

    See proteins identical to NP_060958.2

    Status: REVIEWED

    Source sequence(s)
    AF188703
    Consensus CDS
    CCDS11629.1
    UniProtKB/Swiss-Prot
    P57082
    Related
    ENSP00000240335, OTTHUMP00000263283, ENST00000240335, OTTHUMT00000449649
    Conserved Domains (1) summary
    cd00182
    Location:66255
    Blast Score: 974
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11

    Range
    61451773..61485110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257838.1XP_005257895.1  

    See proteins identical to XP_005257895.1

    Conserved Domains (1) summary
    cd00182
    Location:66255
    Blast Score: 975
    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_005257837.1XP_005257894.1  

    See proteins identical to XP_005257894.1

    Related
    ENSP00000377435, OTTHUMP00000263282, ENST00000393853, OTTHUMT00000449648
    Conserved Domains (1) summary
    cd00182
    Location:66255
    Blast Score: 975
    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_005257835.2XP_005257892.1  

    Conserved Domains (1) summary
    cd00182
    Location:85274
    Blast Score: 976
    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 ...
  4. XM_005257836.2XP_005257893.1  

    Conserved Domains (1) summary
    cd00182
    Location:85274
    Blast Score: 975
    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 HuRef

Genomic

  1. AC_000149.1 Alternate HuRef

    Range
    54900265..54928130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    59598306..59626165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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