• Gene id: 2815

Gene Summary

• Gene Symbol: GP9   Gene   UCSC   Ensembl
• Aliases: CD42a, GPIX
• Gene name: glycoprotein IX platelet
• Alternate names: platelet glycoprotein IX, glycoprotein 9,
• Gene location: 3q21.3 (129055448: 129062410)     Exons: 6     NC_000003.12
• Gene summary(Entrez): This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. T
• OMIM: 173515

Protein Summary

• Protein general information: P14770  
  • Name: Platelet glycoprotein IX (GP IX) (GPIX) (Glycoprotein 9) (CD antigen CD42a)
  • Length: 177  
  • Mass: 19046
• Sequence:

  MPAWGALFLLWATAEATKDCPSPCTCRALETMGLWVDCRGHGLTALPALPARTRHLLLANNSLQSVPPGAFDHLP
  QLQTLDVTQNPWHCDCSLTYLRLWLEDRTPEALLQVRCASPSLAAHGPLGRLTGYQLGSCGWQLQASWVRPGVLW
  DVALVAVAALGLALLAGLLCATTEALD

• Structural information:
  • Protein Domains: (17..5-)
    (/note="LRRNT-)
    (85..13-)
    (/note="LRRCT"-)
  • Interpro: IPR000483  IPR001611  IPR032675  IPR000372  
  • PDB: 3REZ
  • PDBsum: 3REZ
  • STRING: ENSP00000303942
• Other Databases: GeneCards:  GP9  Malacards:  GP9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007596	blood coagulation	IEA	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	NAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04611	Platelet activation
hsa04512	ECM-receptor interaction
hsa04640	Hematopoietic cell lineage

Diseases

Associated diseases	References
Macrothrombocytopenia	KEGG:H01740
Bernard-Soulier syndrome	KEGG:H00224
Macrothrombocytopenia	KEGG:H01740
Bernard-Soulier syndrome	KEGG:H00224
Bernard-Soulier syndrome	PMID:8972003
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881