GP9 (glycoprotein IX platelet)

Gene

• Entrez ID: 2815
• Gene name: Glycoprotein IX platelet
• Gene symbol: GP9
• Synonyms (NCBI Gene): CD42a, GPIX
• Chromosome: 3
• Chromosome location: 3q21.3
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5030764	A>G	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28933377	T>C	Pathogenic	Missense variant, coding sequence variant
rs28933378	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121918036	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918037	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121918038	T>C	Pathogenic	Missense variant, coding sequence variant
rs1297298519	T>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017185	hsa-miR-335-5p	Microarray	18185580
MIRT022106	hsa-miR-125b-5p	Other	19738052

Transcription factors

Transcription factor	Regulation	Reference
FLI1	Activation	10194443;15466856
GATA1	Activation	15466856
GATA1	Unknown	11418466;20564185

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	1730602, 25416956, 31515488
GO:0005886	Component	Plasma membrane	TAS	2771955, 10429193
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	2771955
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	9432024
GO:0007597	Process	Blood coagulation, intrinsic pathway	IPI	10501658
GO:0007597	Process	Blood coagulation, intrinsic pathway	NAS	16293600
GO:0007599	Process	Hemostasis	IEA
GO:0010572	Process	Positive regulation of platelet activation	IDA	1939645
GO:0010572	Process	Positive regulation of platelet activation	NAS	16293600
GO:0016020	Component	Membrane	IEA
GO:0035855	Process	Megakaryocyte development	IEA
GO:0035855	Process	Megakaryocyte development	ISO
GO:0035855	Process	Megakaryocyte development	NAS	16293600
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	1939645
GO:0051209	Process	Release of sequestered calcium ion into cytosol	NAS	16293600
GO:1990779	Component	Glycoprotein Ib-IX-V complex	IPI	1730602
GO:1990779	Component	Glycoprotein Ib-IX-V complex	NAS	16293600

Other IDs

• MIM: 173515
• HGNC: 4444
• e!Ensembl: ENSG00000169704

Protein

• UniProt ID: P14770
• Protein name: Platelet glycoprotein IX (GP-IX) (GPIX) (Glycoprotein 9) (CD antigen CD42a)
• Protein function: The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. G
• PDB: 3REZ, 8WFS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01462	LRRNT	19 → 50	Leucine rich repeat N-terminal domain	Family
  PF13855	LRR_8	51 → 86	Leucine rich repeat	Repeat

• Sequence:

  MPAWGALFLLWATAEATKDCPSPCTCRALETMGLWVDCRGHGLTALPALPARTRHLLLAN
  NSLQSVPPGAFDHLPQLQTLDVTQNPWHCDCSLTYLRLWLEDRTPEALLQVRCASPSLAA
  HGPLGRLTGYQLGSCGWQLQASWVRPGVLWDVALVAVAALGLALLAGLLCATTEALD

• Sequence length: 177

Pathways

KEGG:

ECM-receptor interaction
Platelet activation
Hematopoietic cell lineage

Reactome:

Intrinsic Pathway of Fibrin Clot Formation
GP1b-IX-V activation signalling
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Bernard Soulier syndrome	Likely pathogenic; Pathogenic	rs121918037, rs1946586230, rs2529776939, rs5030764, rs28933377, rs28933378, rs121918038, rs2529777394, rs1297298519, rs769561588	RCV005419304 RCV003326697 RCV003317715 RCV000275909 RCV002222350 RCV006272359 RCV001003901 RCV006272360 RCV005648297 RCV005029413 RCV001283825	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bernard-Soulier syndrome type C	Pathogenic; Likely pathogenic	rs5030764, rs121918036, rs121918037, rs28933377, rs28933378, rs121918038	RCV000014484 RCV000014485 RCV000014486 RCV000014487 RCV000014488 RCV000014489	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GP9-related disorder	Pathogenic	rs5030764	RCV003914843	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Pathogenic; Likely pathogenic	rs5030764, rs121918037, rs1297298519	RCV000761618 RCV000852069 RCV000761617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Pathogenic	rs5030764	RCV000851932	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BERNARD-SOULIER SYNDROME	—	CTD, ClinGen, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BERNARD-SOULIER SYNDROME, TYPE C	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia Aplastic	Aplastic anemia	Pubtator	22315490	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34394126	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Barber Say syndrome	Barber Say Syndrome	GENOMICS_ENGLAND_DG	21357716		★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	15609295, 27291889, 29119855, 34553764, 40045897, 7690959, 8407908	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	10216092, 10527407, 10583255, 10590056, 10996832, 11167791, 11297032, 11776304, 11937271, 12036872, 12447957, 12463594, 14510954, 15550031, 15609295, 16251900, 16268478, 16978236, 17804902, 19404517, 19484238, 21908432, 23143686, 23402648, 23929303, 27346198, 27934591, 28395735, 31484196, 3416070, 6309285, 8049428, 8481514, 8608225, 8972003, 9163595, 9432024, 9886312		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	UNIPROT_DG	10583255, 11167791, 11758225, 12100158, 8481514, 9163595, 9886312		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	CLINGEN_DG	10583255, 12100158, 15609295, 16916536, 21113250, 21173099, 21699652, 23143686, 23402648, 23995613, 28650483, 8089142, 8481514, 9432024, 9886312		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	LHGDN	12447957, 12463594, 17763149, 17804902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	CLINVAR_DG	14510954, 25370924, 31064749, 8049428, 8481514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	GENOMICS_ENGLAND_DG	21357716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	ORPHANET_DG	22886561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier syndrome	Bernard Soulier Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome, Type C	Bernard Soulier Syndrome	BEFREE	31484196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome, Type C	Bernard Soulier Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bernard-Soulier Syndrome, Type C	Bernard Soulier Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	10590056, 16251900, 19484238, 9886312		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	21829388	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	22271903, 27934591, 31484196		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	22271903, 30721642, 36275702, 8407908	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35880886, 40428378	Associate	★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	GENOMICS_ENGLAND_DG	21357716		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	18057877		★☆☆☆☆ Found in Text Mining only
Deficiency of Platelet Glycoprotein 1b	Deficiency Of Platelet Glycoprotein 1b	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36104772	Associate	★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	35202881	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	28064200	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	33925174	Inhibit	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	23143686, 31789661, 9746775		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37506341	Associate	★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	CLINVAR_DG	31064749		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Macrothrombocytopenia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22271903		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22271903, 37506341	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	40305362	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	BEFREE	28561420		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	40428378	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30532530	Stimulate	★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	15477207		★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	28561420	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia Neonatal Alloimmune	Thrombocytopenia	Pubtator	28561420	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	30721642	Associate	★☆☆☆☆ Found in Text Mining only