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

Gene ID: 347853, updated on 11-Jun-2021

Summary

Official Symbol
TBX10provided by HGNC
Official Full Name
T-box transcription factor 10provided by HGNC
Primary source
HGNC:HGNC:11593
See related
Ensembl:ENSG00000167800 MIM:604648
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]
Expression
Biased expression in colon (RPKM 3.2), small intestine (RPKM 3.1) and 1 other tissue See more
Orthologs
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Genomic context

See TBX10 in Genome Data Viewer
Location:
11q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (67631303..67639763, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67398774..67407234, 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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
T-box transcription factor TBX10
Names
T-box 10
T-box 7
T-box protein 10
T-box-containing transcriptional activator

NCBI Reference Sequences (RefSeq)

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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_005995.5NP_005986.2  T-box transcription factor TBX10

    See identical proteins and their annotated locations for NP_005986.2

    Status: REVIEWED

    Source sequence(s)
    AP003385
    Consensus CDS
    CCDS31621.1
    UniProtKB/Swiss-Prot
    O75333
    Related
    ENSP00000335191.3, ENST00000335385.4
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    67631303..67639763 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544992.2XP_011543294.1  T-box transcription factor TBX10 isoform X2

    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  T-box transcription factor TBX10 isoform X1

    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 ...
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