TBXT - T-box transcription factor T Gene

Homo sapiens

Also known as T; TFT; SAVA

Gene ID: 6862 | Gene type: protein coding

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

TBXT Protein Structure

T-box

0
100
200
300
400
435 a.a.

Protein Preferred Names

Protein Names

T-box transcription factor T

T brachyury transcription factor

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14287	TBXT Human Pre-designed siRNA Set A		/	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