TBXT - T-box transcription factor T Gene

Also Known as T; TFT; SAVA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6862

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
21632880 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
21632880 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
22164283 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in cardiac muscle cell myoblast differentiation IDA
IDA: Inferred from direct assay
21632880 GOA
involved in heart morphogenesis IDA
IDA: Inferred from direct assay
21632880 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
21632880 GOA
Cellular Component GO Annotation Evidence References Source
located in chromatin IDA
IDA: Inferred from direct assay
21632880 GOA
located in nucleus IDA
IDA: Inferred from direct assay
22611028 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBXT Protein Structure

T-box

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 435 a.a.
Protein Preferred Names Protein Names

T-box transcription factor T

  • T brachyury transcription factor

TBXT Antibodies

Cat. No. Product Name Application Reactivity
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
HY-P83826A T Box Transcription Factor T Antibody (YA3523)(PBS only) WB, IHC-P, FC, ELISA Human

Related Diseases

Diseases Alias
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
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14287 TBXT Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others TBXT NCBI