TBX10 - T-box transcription factor 10 Gene

Also Known as TBX7; TBX13

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 347853

About TBX10

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:67,631,303-67,641,754 (from NCBI)

This gene has 1 transcript (splice variant), 107 orthologues and 16 paralogues. Biased expression in colon (RPKM 3.2), small intestine (RPKM 3.1) and 1 other tissue.

Summary

This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]

TBX10 Products (1)

mRNA Protein Name
NM_005995.5 NP_005986.2 T-box transcription factor TBX10

TBX10 Protein Structure

T-box

T-box: T-box (67 - 252)

  • 0
  • 100
  • 200
  • 300
  • 385 a.a.
Protein Preferred Names Protein Names

T-box transcription factor TBX10

  • T-box 10

Related Diseases

Diseases Alias
Cleft Lip With Or Without Cleft Palate
  • Tessier Cleft Number 1,2

Cleft Lip
  • Cheiloschisis

  • Labium Leporinum

  • Cleft Lip, Unilateral, Complete

  • Complete Unilateral Cleft Lip

  • Hare Lip

  • Congenital Fissure Of Lip

  • Isolated Cleft Lip

  • Cleft Lip Without Cleft Palate

  • Cleft Lip Without Cleft Palate, Unilateral

  • Isolated Cleft Lip, Unilateral

  • Cleft Lip Without Cleft Palate, Bilateral

  • Isolated Cleft Lip, Bilateral

Isolated Cleft Lip
Digeorge Syndrome
  • Chromosome 22q11.2 Deletion Syndrome

  • DGS

  • Hypoplasia Of Thymus And Parathyroids

  • Third And Fourth Pharyngeal Pouch Syndrome

  • 22q11.2 Deletion Syndrome

  • Digeorge Sequence

  • Digeorge'S Syndrome

  • Pharyngeal Pouch Syndrome

  • Di-George Syndrome

  • Shprintzen Syndrome

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

Ulnar-Mammary Syndrome
  • Schinzel Syndrome

  • UMS

  • Pallister Ulnar-Mammary Syndrome

  • Ulnar-Mammary Syndrome Of Pallister

Blepharocheilodontic Syndrome 1
  • Blepharocheilodontic Syndrome

  • Bcd Syndrome

  • Elschnig Syndrome

  • Clefting, Ectropion, And Conical Teeth

  • Lagophthalmia With Bilateral Cleft Lip And Palate

  • Blepharo-Cheilo-Odontic Syndrome

  • Bcds

  • Ectropion, Inferior, With Cleft Lip And/Or Palate

  • Blepharo-Cheilo-Dontic Syndrome

  • BCDS1

  • Ectropion Inferior Cleft Lip And Or Palate

  • Clefting-Ectropion-Conical Teeth Syndrome

  • Ectropion Inferior-Cleft Lip And/Or Palate Syndrome

  • Lagophthalmia-Cleft Lip And Palate Syndrome

  • Blepharocheilodontic Syndrome, Type 1

Van Der Woude Syndrome
  • Lip-Pit Syndrome

  • Vws

  • Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip

  • Vdws

  • Lps

  • Lip Pit Syndrome

  • Cleft Lip/Palate With Mucous Cysts Of Lower Lip

  • Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Orofacial Cleft
  • Cleft, Orofacial

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus TBX10 VGNC VGNC:66001
Rattus norvegicus TBX10 RGD RGD:1584144
Mus musculus TBX10 MGD MGI:1261436
Macaca mulatta TBX10 VGNC VGNC:107647
Canis familiaris TBX10 VGNC VGNC:49658
Bos taurus TBX10 VGNC VGNC:56286
Others TBX10 NCBI