Symbol: Name: ID: |
SHOX2 short stature homeobox 2 GFS:767 |
Gene name: | SHOX2 |
Chromosome: | 3q25.32 |
Previous Symbols: | |
Previous Names: | |
Aliases: | SHOT, OG12X, OG12 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1201673 | Rat Genome Database ID: | RGD:3674 |
HGNC ID: | HGNC:10854 | RefSeq IDs: | NM_001163678 |
Entrez Gene ID: | 6474 | Ensembl Gene ID: | ENSG00000168779 |
VEGA IDs: | OTTHUMG00000158755 | UniProt ID: | O60902 |
UCSC ID: | uc003fbr.2 | OMIM ID: | 602504 |
Pubmed: | PMID9482898 PMID 9466998 | ||
CCDS IDs: | CCDSCCDS33884.1 CCDS CCDS43164.1 |
SHOX2 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].
May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation
Products for SHOX2 gene
Catalog | Product Name | Application | Company |
GFS:E00767 | short stature homeobox 2; ELISA kit | ELISA | n/a |
GFS:A00767 | short stature homeobox 2; Anti | ANTIBODIES | n/a |
GFS:P00767 | short stature homeobox 2; Protien | Protien | n/a |