ENSG00000169704


Homo sapiens

Features
Gene ID: ENSG00000169704
  
Biological name :GP9
  
Synonyms : glycoprotein IX platelet / GP9 / P14770
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q21.3
Gene start: 129060767
Gene end: 129062406
  
Corresponding Affymetrix probe sets: 206883_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000303942
NCBI entrez gene - 2815     See in Manteia.
OMIM - 173515
RefSeq - XM_011512702
RefSeq - NM_000174
RefSeq - XM_005247374
RefSeq - XM_011512701
RefSeq Peptide - NP_000165
swissprot - P14770
Ensembl - ENSG00000169704
  
Related genetic diseases (OMIM): 231200 - Bernard-Soulier syndrome, type C, 231200
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000005022Gallus gallus
 ENSGALG00000031777Gallus gallus
 Gp9ENSMUSG00000030054Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GP1BB / P13224 / glycoprotein Ib platelet beta subunitENSG0000020361835


Protein motifs (from Interpro)
Interpro ID Name
 IPR000372  Leucine-rich repeat N-terminal domain
 IPR000483  Cysteine-rich flanking region, C-terminal
 IPR001611  Leucine-rich repeat
 IPR032675  Leucine-rich repeat domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion NAS
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0007597 blood coagulation, intrinsic pathway TAS
 biological_processGO:0007599 hemostasis IEA
 biological_processGO:0030168 platelet activation TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005515 protein binding IPI


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000132 Menorrhagia 
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 HP:0000421 Epistaxis 
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 HP:0000979 Purpura 
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 HP:0001438 Abnormality of the abdomen "Abnormality of the abdomen ("belly"), that is, the part of the body between the pelvis and the thorax." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0001892 Bleeding diathesis "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators]
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 HP:0003010 Prolonged bleeding time 
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 HP:0011877 Increased mean platelet volume "Average platelet volume above the upper limit of the normal reference interval." [DDD:wouwehand]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000131187 F12 / P00748 / coagulation factor XII  / reaction
 ENSG00000164924 YWHAZ / P63104 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta  / reaction / complex
 ENSG00000088926 F11 / P03951 / coagulation factor XI  / reaction / complex
 ENSG00000196924 FLNA / P21333 / filamin A  / reaction / complex
 ENSG00000180210 F2 / P00734 / coagulation factor II, thrombin  / complex / reaction
 ENSG00000169704 GP9 / P14770 / glycoprotein IX platelet  / complex
 ENSG00000101981 F9 / P00740 / coagulation factor IX  / reaction
 ENSG00000110799 VWF / P04275 / von Willebrand factor  / reaction / complex
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000185245 GP1BA / P07359 / glycoprotein Ib platelet alpha subunit  / complex
 ENSG00000203618 GP1BB / P13224 / glycoprotein Ib platelet beta subunit  / complex
 ENSG00000178732 GP5 / P40197 / glycoprotein V platelet  / complex






 

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