2. Gene
  3. TBX3 - T-box transcription factor 3 Gene

TBX3 - T-box transcription factor 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：T 盒转录因子 3

种属: Homo sapiens

同用名: UMS; XHL; TBX3-ISO

基因 ID: 6926 | 基因类型: protein coding

关于 TBX3

Cytogenetic location: 12q24.21 Genomic coordinates (GRCh38): 12:114,670,255-114,684,175 (from NCBI)

This gene has 4 transcripts (splice variants), 236 orthologues, 16 paralogues and is associated with 87 phenotypes. Biased expression in adrenal (RPKM 89.8), prostate (RPKM 51.1) and 11 other tissues.

功能概要

该基因是系统发育保守基因家族的成员，该家族共享一个共同的 DNA 结合域，即 T 盒。 T-box 基因编码参与发育过程调控的转录因子。这种蛋白质是一种转录抑制因子，被认为在四足动物前肢的前/后轴中发挥作用。该基因的突变会导致尺乳综合征，影响四肢、大汗腺、牙齿、头发和生殖器发育。该基因的可变剪接导致三种转录变体编码不同的亚型；但是，尚未确定一种变体的全长性质。[RefSeq 提供，2008 年 7 月]

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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]

TBX3 基因产物(2)

mRNA Protein Name
NM_005996.4 NP_005987.3 T-box transcription factor TBX3 isoform 1
NM_016569.4 NP_057653.3 T-box transcription factor TBX3 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
22130515 GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
11689487 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
11689487 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22002537 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
11689487 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within animal organ morphogenesis IDA
IDA: 通过直接分析推断
9207801 GOA
involved in anterior/posterior axis specification, embryo IMP
IMP: 通过突变表型推断
9207801 GOA
involved in cardiac epithelial to mesenchymal transition IMP
IMP: 通过突变表型推断
22130515 GOA
involved in cardiac jelly development IMP
IMP: 通过突变表型推断
22130515 GOA
involved in cellular senescence IDA
IDA: 通过直接分析推断
11748239 GOA
involved in embryonic digit morphogenesis IMP
IMP: 通过突变表型推断
9207801 GOA
involved in embryonic forelimb morphogenesis IMP
IMP: 通过突变表型推断
12116211 GOA
involved in endocardial cushion formation IMP
IMP: 通过突变表型推断
22130515 GOA
involved in female genitalia development IMP
IMP: 通过突变表型推断
12116211 GOA
involved in follicle-stimulating hormone secretion IMP
IMP: 通过突变表型推断
12116211 GOA
acts upstream of or within forelimb morphogenesis IDA
IDA: 通过直接分析推断
9207801 GOA
involved in luteinizing hormone secretion IMP
IMP: 通过突变表型推断
12116211 GOA
involved in male genitalia development IMP
IMP: 通过突变表型推断
12116211 GOA
involved in mammary gland development IMP
IMP: 通过突变表型推断
12116211 GOA
involved in mesoderm morphogenesis IMP
IMP: 通过突变表型推断
9207801 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
10468588 GOA
involved in negative regulation of apoptotic process IDA
IDA: 通过直接分析推断
12032820 GOA
involved in negative regulation of cell proliferation involved in heart morphogenesis IMP
IMP: 通过突变表型推断
22130515 GOA
involved in negative regulation of myoblast differentiation IDA
IDA: 通过直接分析推断
12032820 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
11689487 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
12000749 GOA
involved in positive regulation of cell cycle IDA
IDA: 通过直接分析推断
12032820 GOA
involved in positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
12032820 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
22130515 GOA
involved in sinoatrial node cell development IDA
IDA: 通过直接分析推断
22130515 GOA
involved in skeletal system development IMP
IMP: 通过突变表型推断
9207801 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
11689487 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

TBX3 蛋白结构

T-box

T-box: T-box (104 - 305)

TBX

TBX: T-box transcription factor (323 - 410)

  • 0
  • 200
  • 400
  • 600
  • 743 a.a.
蛋白主名 其他名称

T-box transcription factor TBX3

T-box 3

TBX3 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 TBX3 O15119 UFSP1 Homo sapiens Q6NVU6
Validated Y2H
32296183
Intra TBX3 O15119 UFSP1 Homo sapiens Q6NVU6
Y2H Array
32296183
Intra TBX3 O15119 UFSP1 Homo sapiens Q6NVU6
Y2H Prey Pooling
32296183
Intra TBX3 O15119 PRR20D Homo sapiens P86480
Y2H Array
32296183
Intra TBX3 O15119 PRR20D Homo sapiens P86480
Y2H Prey Pooling
32296183
Intra TBX3 O15119 PRR20D Homo sapiens P86480
Validated Y2H
32296183
Intra TBX3 O15119 CSF3 Homo sapiens Q8N4W3
Y2H Prey Pooling
32296183
Intra TBX3 O15119 CSF3 Homo sapiens Q8N4W3
Validated Y2H
32296183
Intra TBX3 O15119 CSF3 Homo sapiens Q8N4W3
Y2H Array
32296183
Intra TBX3 O15119 PFDN5 Homo sapiens Q99471
Y2H Prey Pooling
32296183
Intra TBX3 O15119 PFDN5 Homo sapiens Q99471
Validated Y2H
32296183
Intra TBX3 O15119 PFDN5 Homo sapiens Q99471
Y2H Array
32296183
Intra TBX3 O15119 TLE5 Homo sapiens Q08117
Validated Y2H
25416956
Intra TBX3 O15119 TLE5 Homo sapiens Q08117
Y2H Array
25416956
Intra TBX3 O15119 CA8 Homo sapiens P35219
Validated Y2H
25416956
Intra TBX3 O15119 CA8 Homo sapiens P35219
Y2H Array
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
Ulnar-Mammary Syndrome

Schinzel Syndrome

UMS

Pallister Ulnar-Mammary Syndrome

Ulnar-Mammary Syndrome Of Pallister
Holt-Oram Syndrome

HOS

Atriodigital Dysplasia

Heart-Hand Syndrome

Atrio-Digital Syndrome

Cardiac-Limb Syndrome

Heart-Hand Syndrome, Type 1

Ventriculo-Radial Syndrome

Hos1

Heart Hand Syndrome

Atrio Digital Syndrome

Hos 1

Atriodigital Dysplasia Type 1

Heart-Hand Syndrome Type 1

Holt Oram Syndrome
Luminal Breast Carcinoma B

Luminal B Breast Carcinoma
Partial Trisomy Distal 4q

Distal Trisomy 4q

Chromosome 4, Partial Trisomy 4q

Distal 4q Trisomy

Dup Syndrome, Partial

Duplication 4q Syndrome, Partial

Partial Trisomy 4q Syndrome

Distal Duplication 4q

Telomeric Duplication 4q

Trisomy 4qter
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
Pyometritis
Sinoatrial Node Disease

Sa Node

Sinuatrial Node

Sinus Node Dysfunction
Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder
Sick Sinus Syndrome

Sinus Node Dysfunction

Sinus Node Disease

Sinus Node Infection

Snd

Sss

Snd - [Sinus Node Dysfunction]

Sinoatrial Node Dysfunction

Sss - [Sick Sinus Syndrome]

Sick Sinus

Sick Sinus Tachycardia
Acheiropody

Acheiropodia

ACHP

Acheiropody, Brazilian Type

Horn-Kolb Syndrome

Horn Kolb Syndrome

Acheiropody Brazilian Type
Ankyloglossia With Or Without Tooth Anomalies

Ankyloglossia

ANKG

'Tongue-Tie'

Tongue-Tie

Tongue Tie

Aberrant Insertion Of Labial Frenulum

Aberrant Insertion Of Frenum Of Tongue

Short Frenulum Linguae

Short Frenulum Of Tongue
Breast Lobular Carcinoma

Cancer, Breast, Lobular

Lobular Breast Carcinoma
Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Pattern

Wpw Syndrome

Anomalous Atrioventricular Excitation

Anomalous A-V Excitation

Ventricular Pre-Excitation With Arrhythmia

WPWS

Ventricular Familial Preexcitation Syndrome

Preexcitation Syndrome

Ventricular Preexcitation

Wpw - [Wolff-Parkinson- White] Syndrome

Pre-Excitation Syndrome
Double Outlet Right Ventricle

Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect

Taussig-Bing Syndrome

Dextrotransposition Of Aorta

Taussig-Bing Syndrome Or Defect

Dorv

Dorv With Subpulmonary Vsd

Dorv-Tga

Double Outlet Right Ventricle With Transposition Of The Great Arteries

Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type

Taussig-Bing Heart

Taussig-Bing Malformation

Taussig-Bing Complex

Taussig-Bing Defect

Taussig-Bing

Double Outlet Right Ventricle With Remote Ventricular Septal Defect

Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect

Double Outlet Right Ventricle With Non-Committed Interventricular Communication

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Heart Septal Defect

Septal Defect

Heart Septal Defects

Cardiac Septal Defects

Congenital Septal Defect Of Heart
Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial
Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect
Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1
Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect
Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14279 TBX3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus TBX3 VGNC VGNC:107727
Bos taurus TBX3 VGNC VGNC:53924
Macaca mulatta TBX3 VGNC VGNC:78273
Mus musculus TBX3 MGD MGI:98495
Rattus norvegicus TBX3 RGD RGD:735203
Canis familiaris TBX3 VGNC VGNC:47174
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