SHOX2
short stature homeobox 2
Sinónimos:
OG12, OG12X, SHOT
Especie:
Human SHOX2 (6474), Mouse Shox2 (20429), Rat Shox2 (25546), Zebrafish shox2 (394171), chicken SHOX2 (777244), dog SHOX2 (485732), naked mole-rat Shox2 (101725435), domestic guinea pig Shox2 (100726869), cow SHOX2 (525900), sheep SHOX2 (101120045)
ID UniProtKB:
ID del gen:
- Human(6474) Summary: 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]
- Mouse(20429) short stature homeobox 2
- Rat(25546) short stature homeobox 2
- Zebrafish(394171) short stature homeobox 2
- chicken(777244) short stature homeobox 2
- dog(485732) short stature homeobox 2
- naked mole-rat(101725435) short stature homeobox 2
- domestic guinea pig(100726869) short stature homeobox 2
- cow(525900) short stature homeobox 2
- sheep(101120045) short stature homeobox 2
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