SHOX2 Gene Summary [Human]
This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
Details
| Type | Protein Coding |
| Official Symbol | SHOX2 |
| Official Name | short stature homeobox 2 [Source:HGNC Symbol;Acc:HGNC:10854] |
| Ensembl ID | ENSG00000168779 |
| Bio databases IDs | |
| Aliases | short stature homeobox 2 |
| Synonyms | 6330543G17Rik, OG12, OG12X, Prx3, SHOT, SHOX homeobox 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SHOX2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- OAR motif
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- protein binding
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- neoplasia
- edema
- organismal death
- obesity
- synovial sarcoma
- soft tissue sarcoma cancer
- depressive disorder
- osteosarcoma
- osteosarcomagenesis
role in cell
- apoptosis
- formation
- expression in
- phosphorylation in
- proliferation
- differentiation
- invasion by
- migration
- size
- colony formation by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SHOX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of chondrocyte differentiation
- sinoatrial valve development
- nervous system development
- chondrocyte development
- embryonic digestive tract morphogenesis
- pacemaker cell differentiation
- cardiac right atrium morphogenesis
- negative regulation of transcription from RNA polymerase II promoter
- skeletal system development
- positive regulation of axonogenesis
- stem cell proliferation
- osteoblast differentiation
- embryonic forelimb morphogenesis
- embryonic skeletal joint morphogenesis
- regulation of branching morphogenesis of a nerve
- cartilage development involved in endochondral bone morphogenesis
- muscle tissue morphogenesis
- smoothened signaling pathway
- sinoatrial node development
- positive regulation of mesenchymal cell proliferation
- positive regulation of skeletal muscle fiber development
- regulation of transcription from RNA polymerase II promoter
- sinoatrial node cell development
- regulation of heart rate
- positive regulation of stem cell proliferation
- positive regulation of smoothened signaling pathway
- mesenchymal cell proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding RNA polymerase II transcription factor activity