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

TBXT - T-box transcription factor T 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 T

种属: Homo sapiens

同用名: T; TFT; SAVA

基因 ID: 6862 | 基因类型: protein coding

关于 TBXT

Cytogenetic location: 6q27 Genomic coordinates (GRCh38): 6:166,157,656-166,168,655 (from NCBI)

This gene has 4 transcripts (splice variants), 223 orthologues, 16 paralogues and is associated with 16 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质是一种胚胎核转录因子，可与特定的 DNA 元素 (回文 T 位点) 结合。它通过其 N 末端的一个区域结合，称为 T 盒，并影响中胚层形成和分化所需基因的转录。该蛋白质定位于脊索衍生细胞。该基因的变异与神经管缺陷和脊索瘤的易感性有关。在一个患有骶骨发育不全和脊椎异常的家族中发现了该基因的突变。[RefSeq 提供，2018 年 9 月]

The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018]

TBXT 基因产物(4)

mRNA Protein Name
NM_001270484.2 NP_001257413.1 T-box transcription factor T isoform 2
NM_001366285.2 NP_001353214.1 T-box transcription factor T isoform 3
NM_001366286.2 NP_001353215.1 T-box transcription factor T isoform 3
NM_003181.4 NP_003172.1 T-box transcription factor T isoform 1
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 factor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
21632880 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
21632880 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
22164283 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
involved in cardiac muscle cell myoblast differentiation IDA
IDA: 通过直接分析推断
21632880 GOA
involved in heart morphogenesis IDA
IDA: 通过直接分析推断
21632880 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
21632880 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
21632880 GOA
located in nucleus IDA
IDA: 通过直接分析推断
22611028 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

TBXT 蛋白结构

T-box

T-box: T-box (44 - 219)

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

T-box transcription factor T

T brachyury transcription factor

TBXT 抗体

目录号 产品名 应用 反应物种
HY-P82399 T Box Transcription Factor T Antibody (YA2144) WB, IHC-P, ICC/IF, IP, FC Mouse, Rat, Human
HY-P83826 T Box Transcription Factor T Antibody (YA3523) WB, IHC-P, FC, ELISA Human

关联疾病

疾病名称 别名
Sacral Agenesis With Vertebral Anomalies

Sacral Agenesis-Abnormal Ossification Of The Vertebral Bodies-Persistent Notochordal Canal Syndrome

SAVA

Spinal Diseases
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Chordoma

CHDM

Notochordoma

Notochordal Sarcoma

Chordoma, Susceptibility To

Chordocarcinoma

Chordoepithelioma
Upper Thoracic Spina Bifida Cystica
Cervicothoracic Spina Bifida Cystica
Cervical Spina Bifida Cystica
Lumbosacral Spina Bifida Cystica
Thoracolumbosacral Spina Bifida Cystica
Total Spina Bifida Cystica
Upper Thoracic Spina Bifida Aperta
Thoracolumbosacral Spina Bifida Aperta
Lumbosacral Spina Bifida Aperta
Cervical Spina Bifida Aperta

Spina Bifida Aperta Of Cervical Spine
Cervicothoracic Spina Bifida Aperta
Total Spina Bifida Aperta
Sacrum Chordoma
Chondroid Chordoma
Myelomeningocele

Meningomyelocele
Spastic Paraplegia 76, Autosomal Recessive

SPG76

Autosomal Recessive Spastic Paraplegia Type 76

Hereditary Spastic Paraplegia 76

Autosomal Recessive Spastic Paraplegia 76

Paraplegia, Spastic, Autosomal Recessive, Type 76
Hemangioblastoma

Capillary Hemangioblastoma
Spinal Chordoma

Chordoma Of Spine

Vertebral Chordoma
Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome

Caudal Regression Sequence

Sacral Agenesis

Caudal Dysgenesis Syndrome

SDAM

Caudal Dysplasia Sequence

Caudal Dysplasia

Sacral Agenesis Syndrome

Sacral Regression Syndrome

Sacral Defect And Anterior Sacral Meningocele

Rudd Klimek Syndrome

Sirenomelia
Bone Cancer

Malignant Bone Neoplasm

Bone Carcinoma

Bone Neoplasms

Bone Neoplasm

Bone Tumour

Ca - Bone Cancer

Malignant Bone Tumour

Malignant Neoplasm Of Bone

Malignant Osseous Tumor

Neoplasm Of Bone

Osseous Tumor

Osteosarcoma Of Bone

Osteogenic Neoplasm
Anencephaly

Aprosencephaly

Anencephalus

Congenital Absence Of Brain

Absence Of A Large Part Of The Brain And The Skull

Anencephalia

Anencephalic Monster

Brain Absence

Brain Agenesis

Brain Aplasia

Absent Brain

Anencephalic

Congenital Absence Of Cerebrum

Congenital Hemicrania

Incomplete Anencephaly
Scoliosis
Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos
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-RS14287 TBXT Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TBXT RGD RGD:1310141
Canis familiaris TBXT VGNC VGNC:47058
Mus musculus TBXT MGD MGI:98472
Macaca mulatta TBXT VGNC VGNC:78267
Bos taurus TBXT VGNC VGNC:35552
Felis catus TBXT VGNC VGNC:97657
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