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TBX10 T-box 10 [ Homo sapiens (human) ]

Gene ID: 347853, updated on 26-May-2016
Official Symbol
TBX10provided by HGNC
Official Full Name
T-box 10provided by HGNC
Primary source
HGNC:HGNC:11593
See related
Ensembl:ENSG00000167800 HPRD:06872; MIM:604648; Vega:OTTHUMG00000167291
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
TBX7; TBX13
Summary
This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]
Orthologs
Location:
11q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (67631303..67639560, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67398774..67407031, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene double C2 domain gamma pseudogene Neighboring gene nudix hydrolase 8 Neighboring gene aminoacylase 3 Neighboring gene aldehyde dehydrogenase 3 family member B2

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcription factor activity, sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
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 TBX10
Names
T-box 7
T-box protein 10
T-box-containing transcriptional activator

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.

mRNA and Protein(s)

  1. NM_005995.4NP_005986.2  T-box transcription factor TBX10

    See identical proteins and their annotated locations for NP_005986.2

    Status: REVIEWED

    Source sequence(s)
    AP003385, AY229977
    Consensus CDS
    CCDS31621.1
    UniProtKB/Swiss-Prot
    O75333
    Related
    ENSP00000335191, OTTHUMP00000235632, ENST00000335385, OTTHUMT00000394034
    Conserved Domains (1) summary
    cd00182
    Location:65255
    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_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    67631303..67639560 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544992.1XP_011543294.1  

    Conserved Domains (1) summary
    cd00182
    Location:110300
    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_011544993.1XP_011543295.1  

    Conserved Domains (1) summary
    cl00145
    Location:194
    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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    67281822..67290082 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)