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  2. TBX10 - T-box transcription factor 10 Gene

TBX10 - T-box transcription factor 10 Gene

中文名称:T 盒转录因子 10

种属: Homo sapiens

同用名: TBX7; TBX13

基因 ID: 347853 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 T-box 转录因子家族的成员。这些转录因子共享一个称为 T 盒的 DNA 结合域,并在多个发育过程中发挥作用,包括早期胚胎细胞命运和器官发生。编码的蛋白质是 T-box 1 亚家族的成员。该基因的突变被认为是伴有或不伴有腭裂的孤立性唇裂的原因。[RefSeq 提供,2010 年 11 月]

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 基因产物(1)

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

TBX10 蛋白结构

T-box

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

  • 0
  • 100
  • 200
  • 300
  • 385 a.a.
蛋白主名 其他名称

T-box transcription factor TBX10

T-box 10

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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