Format

Send to:

Choose Destination

TBX2 T-box transcription factor 2 [ Homo sapiens (human) ]

Gene ID: 6909, updated on 5-Jan-2022

Summary

Official Symbol
TBX2provided by HGNC
Official Full Name
T-box transcription factor 2provided by HGNC
Primary source
HGNC:HGNC:11597
See related
Ensembl:ENSG00000121068 MIM:600747
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VETD
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 product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in lung (RPKM 27.4), placenta (RPKM 24.9) and 18 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TBX2 in Genome Data Viewer
Location:
17q23.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (61399843..61409466)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (59477204..59486827)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BCAS3 microtubule associated cell migration factor Neighboring gene uncharacterized LOC101927855 Neighboring gene TBX2 promoter region Neighboring gene Sharpr-MPRA regulatory region 1503 Neighboring gene TBX2 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2875

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
Vertebral anomalies and variable endocrine and T-cell dysfunction
MedGen: C4748741 OMIM: 618223 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-08-08)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2018-08-08)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genetic loci influencing kidney function and chronic kidney disease.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
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
New loci associated with kidney function and chronic kidney disease.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10169

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in atrioventricular canal development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in atrioventricular canal morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cardiac jelly development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cardiac muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell aging IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular senescence IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cochlea morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in developmental growth involved in morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic camera-type eye morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic digit morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic heart tube development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardial cushion formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in fibroblast growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mammary placode formation IEA
Inferred from Electronic Annotation
more info
 
involved_in melanocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in mesenchymal cell proliferation involved in lung development IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle cell fate determination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cardiac chamber formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cellular senescence IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neurogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pharynx development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pigment metabolic process involved in pigmentation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell cycle G1/S phase transition IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
involved_in roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
involved_in smooth muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in ureteric peristalsis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
T-box transcription factor TBX2
Names
T-box 2
T-box protein 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_005994.4NP_005985.3  T-box transcription factor TBX2

    See identical proteins and their annotated locations for NP_005985.3

    Status: VALIDATED

    Source sequence(s)
    AC005746, AW006595, BC052566, BM985069
    Consensus CDS
    CCDS11627.2
    UniProtKB/Swiss-Prot
    Q13207
    UniProtKB/TrEMBL
    A0A024QZ86
    Related
    ENSP00000240328.3, ENST00000240328.4
    Conserved Domains (3) summary
    PHA03307
    Location:300467
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam12598
    Location:305383
    TBX; T-box transcription factor
    cd20188
    Location:103287
    T-box_TBX2_3-like; DNA-binding domain of T-box transcription factor 2 and 3, and related T-box proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    61399843..61409466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center