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NM_001163678
NM_003030
NM_006884

NM_013665
NM_001302357
NM_001302358
NM_001302359

RefSeq (protein)

NP_001157150
NP_003021
NP_006875

NP_001289286
NP_001289287
NP_001289288
NP_038693

Location (UCSC) Chr 3: 158.1 – 158.11 Mb Chr 3: 66.97 – 66.98 Mb PubMed search [3] [4] Wikidata
View/Edit Human View/Edit Mouse

Short stature homeobox 2, also known as homeobox protein Og12X or paired-related homeobox protein SHOT, is a protein that in humans is encoded by the SHOX2 gene.[5][6][7]

Function

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 proteins have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species.[5]

Clinical significance

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.[5]

SHOX2 localises on chromosome 3, so it is an autosomal and not a pseudoautosomal homeobox (SHOX, which localises on the PAR1 region of chromosome X and Y, has a pseudoautosomal hereditability).

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168779 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027833 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b c "Entrez Gene: short stature homeobox 2". 
  6. ^ Blaschke RJ; Monaghan AP; Schiller S; Schechinger B; Rao E; Padilla-Nash H; Ried T; Rappold GA (March 1998). "SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development". Proc. Natl. Acad. Sci. U.S.A. 95 (5): 2406–11. doi:10.1073/pnas.95.5.2406. PMC 19357Freely accessible. PMID 9482898. 
  7. ^ Semina EV; Reiter RS; Murray JC (March 1998). "A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse". Hum. Mol. Genet. 7 (3): 415–22. doi:10.1093/hmg/7.3.415. PMID 9466998. 

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.