ENSG00000088053


Homo sapiens

Features
Gene ID: ENSG00000088053
  
Biological name :GP6
  
Synonyms : glycoprotein VI platelet / GP6 / Q9HCN6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.42
Gene start: 55013705
Gene end: 55038264
  
Corresponding Affymetrix probe sets: 220336_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000308782
Ensembl peptide - ENSP00000334552
Ensembl peptide - ENSP00000394922
Ensembl peptide - ENSP00000464922
NCBI entrez gene - 51206     See in Manteia.
OMIM - 605546
RefSeq - NM_001083899
RefSeq - NM_001256017
RefSeq - NM_016363
RefSeq Peptide - NP_001077368
RefSeq Peptide - NP_001242946
RefSeq Peptide - NP_057447
swissprot - Q9HCN6
swissprot - K7EIW7
Ensembl - ENSG00000088053
  
Related genetic diseases (OMIM): 614201 - Bleeding disorder, platelet-type, 11, 614201
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
 Gp6ENSMUSG00000078810Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LILRB5 / O75023 / leukocyte immunoglobulin like receptor B5ENSG0000010560921
LILRB1 / leukocyte immunoglobulin like receptor B1ENSG0000010497221
LILRB2 / Q8N423 / leukocyte immunoglobulin like receptor B2ENSG0000013104220
LILRB3 / O75022 / leukocyte immunoglobulin like receptor B3ENSG0000020457720
LILRB4 / Q8NHJ6 / leukocyte immunoglobulin like receptor B4ENSG0000018681819
LILRA2 / Q8N149 / leukocyte immunoglobulin like receptor A2ENSG0000023999818
LILRA6 / Q6PI73 / leukocyte immunoglobulin like receptor A6ENSG0000024448218
LILRA4 / P59901 / leukocyte immunoglobulin like receptor A4ENSG0000023996118
LILRA1 / O75019 / leukocyte immunoglobulin like receptor A1ENSG0000010497418
P43629 / KIR3DL1 / killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1ENSG0000016763316
A6NI73 / LILRA5 / leukocyte immunoglobulin like receptor A5ENSG0000018711615
P43630 / KIR3DL2 / killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2ENSG0000024040315
FCAR / P24071 / Fc fragment of IgA receptorENSG0000018643114
KIR3DL3 / killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3ENSG0000024201914
Q9H7L2 / KIR3DX1 / killer cell immunoglobulin like receptor, three Ig domains X1ENSG0000010497014
NCR1 / O76036 / natural cytotoxicity triggering receptor 1ENSG0000018943014
P43628 / KIR2DL3 / killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3ENSG0000024377211
P43626 / KIR2DL1 / killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1ENSG0000012549811
Q99706 / KIR2DL4 / killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4ENSG0000018901310
KIR2DS4 / killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4ENSG000002219579


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013783  Immunoglobulin-like fold
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007167 enzyme linked receptor protein signaling pathway TAS
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0007599 hemostasis IEA
 biological_processGO:0030168 platelet activation NAS
 biological_processGO:0050900 leukocyte migration TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009986 cell surface HDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0097197 tetraspanin-enriched microdomain IDA
 molecular_functionGO:0004888 transmembrane signaling receptor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005518 collagen binding TAS


Pathways (from Reactome)
Pathway description
GPVI-mediated activation cascade
Cell surface interactions at the vascular wall
Platelet Adhesion to exposed collagen


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:0000978 Ecchymoses 
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 HP:0003010 Prolonged bleeding time 
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 HP:0003593 Early onset 
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / reaction / complex
 ENSG00000158869 FCER1G / P30273 / Fc fragment of IgE receptor Ig  / complex / reaction
 ENSG00000165025 SYK / P43405 / spleen associated tyrosine kinase  / complex / reaction
 ENSG00000254087 LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase  / complex / reaction






 

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