• Gene id: 145258

Gene Summary

• Gene Symbol: GSC   Gene   UCSC   Ensembl
• Aliases: SAMS
• Gene name: goosecoid homeobox
• Alternate names: homeobox protein goosecoid,
• Gene location: 14q32.13 (94770112: 94768222)     Exons: 3     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage developme
• OMIM: 605817

Protein Summary

• Protein general information: P56915  
  • Name: Homeobox protein goosecoid
  • Length: 257  
  • Mass: 28150
• Sequence:

  MPASMFSIDNILAARPRCKDSVLPVAHSAAAPVVFPALHGDSLYGASGGASSDYGAFYPRPVAPGGAGLPAAVSG
  SRLGYNNYFYGQLHVQAAPVGPACCGAVPPLGAQQCSCVPTPPGYEGPGSVLVSPVPHQMLPYMNVGTLSRTELQ
  LLNQLHCRRKRRHRTIFTDEQLEALENLFQETKYPDVGTREQLARKVHLREEKVEVWFKNRRAKWRRQKRSSSEE
  SENAEKWNKTSSSKASPEKREEEGKSDLDSDS

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 2DMU
  • PDBsum: 2DMU
  • STRING: ENSP00000238558
• Other Databases: GeneCards:  GSC  Malacards:  GSC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0014036	neural crest cell fate specification	IMP	biological process
GO:0042474	middle ear morphogenesis	ISS	biological process
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:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0048644	muscle organ morphogenesis	IEA	biological process
GO:0023019	signal transduction involved in regulation of gene expression	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0009653	anatomical structure morphogenesis	IEA	biological process
GO:0001085	RNA polymerase II transcription factor binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0043583	ear development	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001103	RNA polymerase II repressing transcription factor binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001085	RNA polymerase II transcription factor binding	ISS	molecular function
GO:0001103	RNA polymerase II repressing transcription factor binding	ISS	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007369	gastrulation	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881