Format

Send to:

Choose Destination

TBX3 T-box 3 [ Homo sapiens (human) ]

Gene ID: 6926, updated on 3-Sep-2017
Official Symbol
TBX3provided by HGNC
Official Full Name
T-box 3provided by HGNC
Primary source
HGNC:HGNC:11602
See related
Ensembl:ENSG00000135111 MIM:601621; Vega:OTTHUMG00000169586
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
UMS; XHL; TBX3-ISO
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. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
Orthologs
Location:
12q24.21
Exon count:
8
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (114670254..114684164, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (115108059..115121969, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SK small nuclear pseudogene 216 Neighboring gene osteoclast stimulating factor 1 pseudogene 1 Neighboring gene uncharacterized LOC105370000 Neighboring gene uncharacterized LOC105369999 Neighboring gene uncharacterized LOC107984437

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Ulnar-mammary syndrome
MedGen: C1866994 OMIM: 181450 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genetic correction of PSA values using sequence variants associated with PSA levels.
NHGRI GWA Catalog
Genetic determinants of P wave duration and PR segment.
NHGRI GWA Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
NHGRI GWA Catalog
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
NHGRI GWA Catalog
Genome-wide association study of blood pressure and hypertension.
NHGRI GWA Catalog
Genome-wide association study of PR interval.
NHGRI GWA Catalog
Identification of a novel percent mammographic density locus at 12q24.
NHGRI GWA Catalog
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
NHGRI GWA Catalog
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
NHGRI GWA Catalog
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • Preimplantation Embryo, organism-specific biosystem (from WikiPathways)
    Preimplantation Embryo, organism-specific biosystemThe source of this pathway is RNA-Seq data from single-cell pre-implantation embryos (Supplemental Table 1): http://www.nature.com/nsmb/journal/v20/n9/full/nsmb.2660.html Analysis options for runnin...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
animal organ morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
anterior/posterior axis specification, embryo IMP
Inferred from Mutant Phenotype
more info
PubMed 
atrioventricular bundle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
blood vessel development IEA
Inferred from Electronic Annotation
more info
 
branching involved in mammary gland duct morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
cell aging IDA
Inferred from Direct Assay
more info
PubMed 
cellular senescence IDA
Inferred from Direct Assay
more info
PubMed 
embryonic digit morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
female genitalia development IMP
Inferred from Mutant Phenotype
more info
PubMed 
follicle-stimulating hormone secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
forelimb morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
heart looping IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
limbic system development IEA
Inferred from Electronic Annotation
more info
 
luteinizing hormone secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
male genitalia development IMP
Inferred from Mutant Phenotype
more info
PubMed 
mammary gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
mammary placode formation IEA
Inferred from Electronic Annotation
more info
 
mesoderm morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of myoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
palate development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
sinoatrial node cell development IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
specification of animal organ position IEA
Inferred from Electronic Annotation
more info
 
stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
ventricular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
T-box transcription factor TBX3
Names
T-box protein 3
bladder cancer related protein XHL

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_008315.1 RefSeqGene

    Range
    5001..18911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005996.3NP_005987.3  T-box transcription factor TBX3 isoform 1

    See identical proteins and their annotated locations for NP_005987.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the shorter isoform (1) of this protein.
    Source sequence(s)
    AF140240, AK054604, BC025258
    Consensus CDS
    CCDS9175.1
    UniProtKB/Swiss-Prot
    O15119
    UniProtKB/TrEMBL
    A0A024RBQ4
    Related
    ENSP00000257567.2, OTTHUMP00000241621, ENST00000349155.6, OTTHUMT00000404945
    Conserved Domains (2) summary
    pfam12598
    Location:303391
    TBX; T-box transcription factor
    cd00182
    Location:104287
    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_016569.3NP_057653.3  T-box transcription factor TBX3 isoform 2

    See identical proteins and their annotated locations for NP_057653.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini and is longer compared to isoform 1.
    Source sequence(s)
    AF140240, AK054604, BC025258
    Consensus CDS
    CCDS9176.1
    UniProtKB/Swiss-Prot
    O15119
    UniProtKB/TrEMBL
    A0A024RBL6
    Related
    ENSP00000257566.3, OTTHUMP00000241622, ENST00000257566.7, OTTHUMT00000404947
    Conserved Domains (2) summary
    pfam12598
    Location:323411
    TBX; T-box transcription factor
    cd00182
    Location:104307
    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 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    114670254..114684164 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    115075996..115089899 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center