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

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: mouse all
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Genomic context

Location:: 17q23.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (61452422..61485110)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (62321267..62353953)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (59529783..59562471)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children.
Title: Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children.
Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype.
Title: Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype.
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.
Title: What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.
Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome.
Title: Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome.
Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
Title: Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
Rare and de novo duplications containing SHOX in clubfoot.
Title: Rare and de novo duplications containing SHOX in clubfoot.
TBX4 variants and pulmonary diseases: getting out of the 'Box'.
Title: TBX4 variants and pulmonary diseases: getting out of the 'Box'.
Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation.
Title: Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation.
Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq.
Title: Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq.
Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.
Title: Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info

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
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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

NG_008080.1 RefSeqGene

Range

977..33665

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1206

mRNA and Protein(s)

NM_001321120.2 → NP_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:66 → 255

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 ...
NM_018488.3 → NP_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:66 → 255

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

61452422..61485110

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011525495.3 → XP_011523797.1 T-box transcription factor TBX4 isoform X3

Conserved Domains (1) summary

cd00182
Location:129 → 318

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 ...
XM_011525490.3 → XP_011523792.1 T-box transcription factor TBX4 isoform X1

Conserved Domains (1) summary

cd00182
Location:129 → 318

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 ...
XM_011525491.3 → XP_011523793.1 T-box transcription factor TBX4 isoform X2

Conserved Domains (1) summary

cd00182
Location:129 → 318

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 ...