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

Gene ID: 9496, updated on 12-Feb-2024

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; AllianceGenome:HGNC:11603
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
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Genomic context

See TBX4 in Genome Data Viewer
Location:
17q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (61452422..61485110)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (62321267..62353953)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (59529783..59562471)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TBX2 promoter region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59482769-59483666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59487827-59488409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59494097-59494644 Neighboring gene Sharpr-MPRA regulatory region 1503 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:59504513-59505712 Neighboring gene long intergenic non-protein coding RNA 2875 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:59521182-59521392 Neighboring gene T-box transcription factor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59529753-59530594 Neighboring gene uncharacterized LOC124904042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59531395-59532276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59532277-59533157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59539816-59540478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59541142-59541803 Neighboring gene Sharpr-MPRA regulatory region 11492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59553878-59554580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59554581-59555281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59563448-59564310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59564311-59565173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59591549-59592049 Neighboring gene nascent polypeptide associated complex subunit alpha 2 Neighboring gene Sharpr-MPRA regulatory region 7395 Neighboring gene BRCA1 interacting helicase 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:59835525-59836270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12535 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
Autosomal recessive amelia
MedGen: C1832432 OMIM: 601360 GeneReviews: Not available
Compare labs
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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in embryonic hindlimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic lung development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lung development IEA
Inferred from Electronic Annotation
more info
 
involved_in morphogenesis of an epithelium 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
 
involved_in skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
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
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_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
    A5PKU7, B2RMT1, B7ZLV3, 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: 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_000017.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011525495.3XP_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_011525490.3XP_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_011525491.3XP_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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    62321267..62353953
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317872.1XP_054173847.1  T-box transcription factor TBX4 isoform X3

  2. XM_054317870.1XP_054173845.1  T-box transcription factor TBX4 isoform X1

  3. XM_054317871.1XP_054173846.1  T-box transcription factor TBX4 isoform X2