• Gene id: 6473

Gene Summary

• Gene Symbol: SHOX   Gene   UCSC   Ensembl
• Aliases: GCFX, PHOG, SHOXY, SS
• Gene name: short stature homeobox
• Alternate names: short stature homeobox protein, growth control factor, X-linked, pseudoautosomal homeobox-containing osteogenic protein,
• Gene location: Xp22.33 and Yp11.2 (624343: 659410)     Exons: 7     NC_000023.11
• Gene summary(Entrez): This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome pati
• OMIM: 312865400020

Protein Summary

• Protein general information: O15266  
  • Name: Short stature homeobox protein (Pseudoautosomal homeobox containing osteogenic protein) (Short stature homeobox containing protein)
  • Length: 292  
  • Mass: 32236
  • Tissue specificity: SHOXA is expressed in skeletal muscle, placenta, pancreas, heart and bone marrow fibroblast and SHOXB is highly expressed in bone marrow fibroblast followed by kidney and skeletal muscle. SHOXB is not expressed in brain, kidney, liver
• Sequence:

  MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDITEGGGHCPVHLFKDHV
  DNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRSRTNFTLEQLNELERLFDETHYPDAFMREEL
  SQRLGLSEARVQVWFQNRRAKCRKQENQMHKGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAH
  PHLHPHLAAHAPYLMFPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR000047  IPR003654  
  • Prosite: PS00027 PS50071 PS50803
  • CDD: cd00086
  • STRING: ENSP00000370990
• Other Databases: GeneCards:  SHOX  Malacards:  SHOX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IMP	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
SHOX-related short stature	KEGG:H00492
SHOX-related short stature	KEGG:H00492
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R