TBX3
Sign in to saveAlso known as TBX3-ISO, UMS, XHL, T-box 3, T-box transcription factor 3
T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3 gene.
Gene data
TBX3- Name
- T-box transcription factor 3
- Type
- protein-coding
- Position
- 114,670,255–114,684,414 (−)
- Aliases
- TBX3-ISO, UMS, XHL
- Ensembl
- ENSG00000135111
- RefSeq RNA
- NM_005996.4, NM_016569.4
- RefSeq protein
- NP_005987.3, NP_057653.3
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
T-box transcription factor 3
- Symbol
- TBX3
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 12:114,670,255-114,684,414
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein TBX3 PDB 1h6f.png
Show 12 more facts
- HomoloGene ID
- 4371
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/6926
- genomic end
- 114684175
- genomic start
- 114670255
- chromosome
- human chromosome 12
- cytogenetic location
- 12q24.21
- increased expression in
- Colorectal cancer
- expressed in
- placenta
- altered regulation leads to
- bladder cancer
- decreased expression in
- obesity
- Commons category
- T-box protein 3, tbx3
via Wikidata · CC0
~10 min read
Encyclopedic overview
8 sectionsContents
- Transcript splicing
- Structure and function
- Role in development
- Role in stem cells
- Clinical significance
- Notes
- References
- External links
T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3 gene.
T-box 3 (TBX3) is a member of the T-box gene family of transcription factors which all share a highly conserved DNA binding domain known as the T-box. The T-box gene family consists of 17 members in mouse and humans that are grouped into five subfamilies, namely Brachyury (T), T-brain (Tbr1), TBX1, TBX2, and TBX6. Tbx3 is a member of the Tbx2 subfamily which includes Tbx2, Tbx4 and Tbx5. The human TBX3 gene maps to chromosome 12 at position 12q23-24.1 and consists of 7 exons which encodes a 723 amino acid protein (ENSEMBL assembly release GRCh38.p12).
Excerpted from Wikipedia’s “TBX3” article, available under the CC BY-SA 4.0 licence.