1. Gene
  2. TBX10 - T-box transcription factor 10 Gene

TBX10 - T-box transcription factor 10 Gene

Homo sapiens

Also known as TBX7; TBX13

Gene ID: 347853 | Gene type: protein coding

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