TBX2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
TBX2
Protein TBX2 PDB 1h6f.png
Identifiers
Aliases TBX2
External IDs MGI: 98494 HomoloGene: 38123 GeneCards: 6909
RNA expression pattern
PBB GE TBX2 205993 s at tn.png

PBB GE TBX2 213417 at tn.png

PBB GE TBX2 40560 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005994

NM_009324

RefSeq (protein)

NP_005985.3

NP_033350.2

Location (UCSC) Chr 17: 61.4 – 61.41 Mb Chr 11: 85.83 – 85.84 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

T-box transcription factor TBX2 is a protein that in humans is encoded by the TBX2 gene.[1][2]

Function[edit]

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.[2]

In melanocytic cell types, expression of the T-box 2 gene is regulated by the Microphthalmia-associated transcription factor.[3][4]

Clinical Significance[edit]

A participant in the Undiagnosed Diseases Network (UDN) with DiGeorge syndrome (of unknown cause), was found to carry the following genetic variant in the TBX2 gene: c.59G>A/p.R20Q. Research is underway to see if this change is causing symptoms in this participant.[5]

References[edit]

  1. ^ Campbell C, Goodrich K, Casey G, Beatty B (Jul 1995). "Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene". Genomics 28 (2): 255–60. doi:10.1006/geno.1995.1139. PMID 8530034. 
  2. ^ a b "Entrez Gene: TBX2 T-box 2". 
  3. ^ Carreira S, Liu B, Goding CR (Jul 2000). "The gene encoding the T-box factor Tbx2 is a target for the microphthalmia-associated transcription factor in melanocytes". The Journal of Biological Chemistry 275 (29): 21920–7. doi:10.1074/jbc.M000035200. PMID 10770922. 
  4. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (Dec 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  5. ^ "Undiagnosed Diseases Network: Participant Page 001". 

Further reading[edit]

External links[edit]