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  2. TBX15 - T-box transcription factor 15 Gene

TBX15 - T-box transcription factor 15 Gene

中文名称:T 盒转录因子 15

种属: Homo sapiens

同用名: TBX14

基因 ID: 6913 | 基因类型: protein coding

关于 TBX15

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:118,883,047-118,989,510 (from NCBI)

This gene has 3 transcripts (splice variants), 233 orthologues, 16 paralogues and is associated with 3 phenotypes. Biased expression in fat (RPKM 11.5), liver (RPKM 10.7) and 4 other tissues.

功能概要

该基因属于 T-box 基因家族,它编码一个系统发育保守的转录因子家族,调节各种发育过程。所有这些基因都包含一个共同的 T 盒 DNA 结合域。该基因的突变与表亲综合征有关。[RefSeq 提供,2009 年 10 月]

This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]

TBX15 基因产物(2)

mRNA Protein Name
NM_001330677.2 NP_001317606.1 T-box transcription factor TBX15 isoform 1
NM_152380.3 NP_689593.2 T-box transcription factor TBX15 isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TBX15 蛋白结构

T-box

T-box: T-box (114 - 305)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 602 a.a.
蛋白主名 其他名称

T-box transcription factor TBX15

T-box 14

TBX15 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra TBX15 Q96SF7 VENTX Homo sapiens O95231
Y2H Prey Pooling
25416956
Intra TBX15 Q96SF7 VENTX Homo sapiens O95231
Y2H Array
31515488
Intra TBX15 Q96SF7 POLE2 Homo sapiens P56282
Validated Y2H
25416956
Intra TBX15 Q96SF7 ATXN1 Homo sapiens P54253
Y2H Prey Pooling
25416956
Intra TBX15 Q96SF7 ATXN1 Homo sapiens P54253
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cousin Syndrome

Pelviscapular Dysplasia

Craniofacial Dysmorphism, Hypoplasia Of Scapula And Pelvis, And Short Stature

Craniofacial Dysmorphism, Hypoplasia Of Scapula And Pelvis And Short Stature

Familial Pelvis-Scapular Dysplasia

COUSS

Acromegaloid Facial Appearance Syndrome

Afa Syndrome

Thick Lips And Oral Mucosa

Ulnar-Mammary Syndrome

Schinzel Syndrome

UMS

Pallister Ulnar-Mammary Syndrome

Ulnar-Mammary Syndrome Of Pallister

Cleft Palate With Or Without Ankyloglossia, X-Linked

Cleft Palate With Ankyloglossia

CPX

X-Linked Cleft Palate And Ankyloglossia

X-Linked Cleft Palate With Or Without Ankyloglossia

X-Linked Cleft Palate

X-Linked Cleft Palate With Ankyloglossia

Cleft Palate, With/Without Ankyloglossia, X-Linked

Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

RRS1

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs

Costovertebral Segmentation Defect With Mesomelia, Formerly

Covesdem Syndrome, Formerly

Costovertebral Segmentation Defect With Mesomelia

Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly

Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly

Robinow, Autosomal Recessive Syndrome, Type 1

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Brachydactyly
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
Bos taurus TBX15 VGNC VGNC:55686
Felis catus TBX15 VGNC VGNC:107673
Macaca mulatta TBX15 VGNC VGNC:78268
Mus musculus TBX15 MGD MGI:1277234
Rattus norvegicus TBX15 RGD RGD:1308094
Canis familiaris TBX15 VGNC VGNC:47169