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T T, brachyury homolog (mouse) [ Homo sapiens (human) ]

Gene ID: 6862, updated on 29-Sep-2014
Official Symbol
Tprovided by HGNC
Official Full Name
T, brachyury homolog (mouse)provided by HGNC
Primary source
HGNC:HGNC:11515
Locus tag
RP11-459F1.1
See related
Ensembl:ENSG00000164458; HPRD:03236; MIM:601397; Vega:OTTHUMG00000015991
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TFT; SAVA
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
Location:
6q27
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (166157656..166168669, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (166571144..166582157, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 473 Neighboring gene long intergenic non-protein coding RNA 602 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 72 Neighboring gene guanine nucleotide binding protein (G protein), gamma 5 pseudogene 1 Neighboring gene proline rich 18

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Neural tube defect
MedGen: C0027794 OMIM: 182940 GeneReviews: Not available
Compare labs
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
MedGen: CN186032 OMIM: 615709 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association identifies the T gene as a novel asthma pharmacogenetic locus.
NHGRI GWA Catalog

Markers

Homology

Clone Names

  • MGC104817

Gene Ontology Provided by GOA

Process Evidence Code Pubs
BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
SMAD protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior axis specification, embryo TAS
Traceable Author Statement
more info
PubMed 
bone morphogenesis IEA
Inferred from Electronic Annotation
more info
 
canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
determination of heart left/right asymmetry IEA
Inferred from Electronic Annotation
more info
 
embryonic skeletal system development IEA
Inferred from Electronic Annotation
more info
 
heart morphogenesis IDA
Inferred from Direct Assay
more info
 
mesoderm development TAS
Traceable Author Statement
more info
PubMed 
mesoderm migration involved in gastrulation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
neural plate morphogenesis IEA
Inferred from Electronic Annotation
more info
 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
notochord formation IEA
Inferred from Electronic Annotation
more info
 
penetration of zona pellucida IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation IDA
Inferred from Direct Assay
more info
 
post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
primitive streak formation NAS
Non-traceable Author Statement
more info
PubMed 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
brachyury protein
Names
brachyury protein
protein T
T brachyury homolog

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012135.1 

    Range
    4975..15988
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001270484.1NP_001257413.1  brachyury protein isoform 2

    See proteins identical to NP_001257413.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL627443, BC098425, BE785653
    Consensus CDS
    CCDS59045.1
    UniProtKB/Swiss-Prot
    O15178
    Related
    ENSP00000355836, OTTHUMP00000248709, ENST00000366871, OTTHUMT00000043038
    Conserved Domains (2) summary
    PLN00217
    Location:171279
    PLN00217; predicted protein; Provisional
    cd00182
    Location:42223
    TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
  2. NM_003181.3NP_003172.1  brachyury protein isoform 1

    See proteins identical to NP_003172.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AJ001699, AL627443, BC098425, BE785653, BU190437
    Consensus CDS
    CCDS5290.1
    UniProtKB/Swiss-Prot
    O15178
    Related
    ENSP00000296946, OTTHUMP00000017588, ENST00000296946, OTTHUMT00000043037
    Conserved Domains (1) summary
    cd00182
    Location:42223
    TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    166157656..166168669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    164037863..164048876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    166835290..166846303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)