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TBX6 T-box 6 [ Homo sapiens (human) ]

Gene ID: 6911, updated on 26-May-2016
Official Symbol
TBX6provided by HGNC
Official Full Name
T-box 6provided by HGNC
Primary source
HGNC:HGNC:11605
See related
Ensembl:ENSG00000149922 HPRD:03888; MIM:602427; Vega:OTTHUMG00000132115
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
SCDO5
Summary
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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]
Orthologs
Location:
16p11.2
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (30085793..30091937, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30097114..30103258, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene aldolase, fructose-bisphosphate A Neighboring gene protein phosphatase 4 catalytic subunit Neighboring gene uncharacterized LOC101928595 Neighboring gene yippee like 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II activating transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor activity, sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcriptional repressor activity, RNA polymerase II transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cell fate specification IEA
Inferred from Electronic Annotation
more info
 
mesoderm development TAS
Traceable Author Statement
more info
PubMed 
mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron maturation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron projection development 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
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
somite rostral/caudal axis specification IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
T-box transcription factor TBX6
Names
T-box protein 6

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_023283.1 RefSeqGene

    Range
    5001..11092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004608.3NP_004599.2  T-box transcription factor TBX6

    See identical proteins and their annotated locations for NP_004599.2

    Status: REVIEWED

    Source sequence(s)
    BC026031
    Consensus CDS
    CCDS10670.1
    UniProtKB/Swiss-Prot
    O95947
    Related
    ENSP00000378650, OTTHUMP00000162995, ENST00000395224, OTTHUMT00000255157
    Conserved Domains (1) summary
    cd00182
    Location:90277
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    30085793..30091937 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255523.1XP_005255580.1  

    See identical proteins and their annotated locations for XP_005255580.1

    UniProtKB/Swiss-Prot
    O95947
    Conserved Domains (1) summary
    cd00182
    Location:90277
    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. XM_011545926.1XP_011544228.1  

    See identical proteins and their annotated locations for XP_011544228.1

    UniProtKB/Swiss-Prot
    O95947
    Conserved Domains (1) summary
    cd00182
    Location:90277
    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 ...

RNA

  1. XR_950840.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    31312871..31318962 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_080758.1: Suppressed sequence

    Description
    NM_080758.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.