SHOX2

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]

SHOX2
Identifiers
Aliases	SHOX2, OG12, OG12X, SHOT, short stature homeobox 2
External IDs	OMIM: 602504; MGI: 1201673; HomoloGene: 68535; GeneCards: SHOX2; OMA:SHOX2 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q25.32 Start 158,095,905 bp[1] End 158,106,420 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 E1|3 30.76 cM Start 66,879,060 bp[2] End 66,889,104 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell lateral nuclear group of thalamus saphenous vein tendon of biceps brachii sperm popliteal artery tibial arteries Achilles tendon spinal ganglia tibial nerve Top expressed in medial dorsal nucleus lateral geniculate nucleus medial geniculate nucleus inferior colliculi lumbar spinal ganglion electrical conduction system of the heart body of femur superior colliculus dermis facial motor nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function sequence-specific DNA binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process cartilage development involved in endochondral bone morphogenesis skeletal system development regulation of chondrocyte differentiation heart valve development regulation of transcription, DNA-templated chondrocyte differentiation positive regulation of smoothened signaling pathway chondrocyte development negative regulation of transcription by RNA polymerase II positive regulation of skeletal muscle fiber development positive regulation of axonogenesis nervous system development multicellular organism development heart development positive regulation of mesenchymal cell proliferation embryonic limb morphogenesis muscle tissue morphogenesis regulation of branching morphogenesis of a nerve embryonic morphogenesis osteoblast differentiation embryonic digestive tract morphogenesis embryonic skeletal joint morphogenesis cardiac atrium morphogenesis embryonic forelimb morphogenesis positive regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6474 20429 Ensembl ENSG00000168779 ENSMUSG00000027833 UniProt O60902 P70390 RefSeq (mRNA) 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: 66.88 – 66.89 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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).