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

Gene ID: 6909, updated on 11-Sep-2019

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

Genomic context

See TBX2 in Genome Data Viewer
Location:
17q23.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (61399843..61409466)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (59477257..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 TBX2 antisense RNA 1 Neighboring gene chromosome 17 open reading frame 82 Neighboring gene T-box transcription factor 4

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Heart Development, organism-specific biosystem (from WikiPathways)
    Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
  • Kit receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Kit receptor signaling pathway, organism-specific biosystemKit is a cytokine receptor that belongs to the type III receptor tyrosine kinase family. It is structurally similar to platelet-derived growth factor recpetors (PDGFRs), colony stimulating factor-1 r...

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
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
atrioventricular canal development ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac chamber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
cell aging IDA
Inferred from Direct Assay
more info
PubMed 
cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular senescence IDA
Inferred from Direct Assay
more info
PubMed 
central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
developmental growth involved in morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic camera-type eye morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic digit morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic heart tube development ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
heart looping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
mammary placode formation IEA
Inferred from Electronic Annotation
more info
 
muscle cell fate determination ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cardiac chamber formation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pharynx development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor 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)

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
    pfam00907
    Location:107287
    T-box; T-box
    pfam12598
    Location:305383
    TBX; T-box transcription factor
    cl28033
    Location:300467
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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)
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