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Aliases for GP9 Gene

Aliases for GP9 Gene

  • Glycoprotein IX Platelet 2 3 5
  • Platelet Glycoprotein IX 2 3
  • Glycoprotein 9 3 4
  • GPIX 3 4
  • Glycoprotein IX (Platelet) 2
  • CD42a Antigen 4
  • CD42a 3
  • GP-IX 4

External Ids for GP9 Gene

Previous GeneCards Identifiers for GP9 Gene

  • GC03P125730
  • GC03P129161
  • GC03P130062
  • GC03P130100
  • GC03P130262
  • GC03P128779
  • GC03P126166
  • GC03P129136
  • GC03P129209
  • GC03P129276
  • GC03P129362

Summaries for GP9 Gene

Entrez Gene Summary for GP9 Gene

  • 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. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]

GeneCards Summary for GP9 Gene

GP9 (Glycoprotein IX Platelet) is a Protein Coding gene. Diseases associated with GP9 include Bernard-Soulier Syndrome, Type C and Thrombocytopenia. Among its related pathways are Integrin alphaIIb beta3 signaling and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. An important paralog of this gene is GP1BB.

UniProtKB/Swiss-Prot for GP9 Gene

  • 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. GP-IX may provide for membrane insertion and orientation of GP-Ib.

Gene Wiki entry for GP9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GP9 Gene

Genomics for GP9 Gene

Regulatory Elements for GP9 Gene

Enhancers for GP9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F128616 1.4 FANTOM5 Ensembl ENCODE 19.4 -436.9 -436887 4.8 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 ZNF766 ZNF143 ZNF207 FOS GP9 POU5F1P6 DNAJB8 H1FX RPN1 GATA2 RAB7A KIAA1257 GC03P128663 LINC01565
GH03F129223 1.6 FANTOM5 Ensembl ENCODE 17.8 +174.4 174449 12.2 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 FOS KIAA1257 RAB43 CNBP GP9 ISY1 HMCES MBD4 RPL32P3 ACAD9 POU5F1P6
GH03F129116 1.5 FANTOM5 Ensembl ENCODE 13.5 +64.6 64631 7.9 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SP3 SP5 MXD4 KIAA1257 ISY1 GP9 RAB43 EFCC1 MBD4 ACAD9 RPL32P3 HMCES CNBP
GH03F129086 0.6 Ensembl ENCODE 12.5 +32.3 32275 1.9 SMARCE1 ATF1 SAP130 MLX SMAD5 JUN JUNB FOSL1 ARID1B RAD51 GP9 ENSG00000187695 RAB43 RPL32P3 PIR45850 GC03M129069 PIR33900
GH03F129024 1 Ensembl ENCODE 12 -29.1 -29074 2.9 ATF1 CREB3L1 SIN3A GLIS2 ZNF143 ZNF207 FOS ZNF263 NFYC REST EFCC1 GP9 CNBP RAB43 KIAA1257 PIR62024
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GP9 on UCSC Golden Path with GeneCards custom track

Genomic Location for GP9 Gene

Chromosome:
3
Start:
129,055,449 bp from pter
End:
129,062,411 bp from pter
Size:
6,963 bases
Orientation:
Plus strand

Genomic View for GP9 Gene

Genes around GP9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GP9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GP9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GP9 Gene

Proteins for GP9 Gene

  • Protein details for GP9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14770-GPIX_HUMAN
    Recommended name:
    Platelet glycoprotein IX
    Protein Accession:
    P14770
    Secondary Accessions:
    • Q14445
    • Q8N1D1
    • Q92525

    Protein attributes for GP9 Gene

    Size:
    177 amino acids
    Molecular mass:
    19046 Da
    Quaternary structure:
    • Two GP-Ib beta are disulfide-linked to one GP-Ib alpha. GP-IX is complexed with the GP-Ib heterodimer via a non covalent linkage.
    Miscellaneous:
    • Platelet activation apparently involves disruption of the macromolecular complex of GP-Ib with the platelet glycoprotein IX (GP-IX) and dissociation of GP-Ib from the actin-binding protein.

    Three dimensional structures from OCA and Proteopedia for GP9 Gene

neXtProt entry for GP9 Gene

Post-translational modifications for GP9 Gene

  • Glycosylation at Asn 60
  • Modification sites at PhosphoSitePlus

Other Protein References for GP9 Gene

No data available for DME Specific Peptides for GP9 Gene

Domains & Families for GP9 Gene

Gene Families for GP9 Gene

Suggested Antigen Peptide Sequences for GP9 Gene

Graphical View of Domain Structure for InterPro Entry

P14770

UniProtKB/Swiss-Prot:

GPIX_HUMAN :
  • Contains 1 LRRCT domain.
  • Contains 1 LRR (leucine-rich) repeat.
Domain:
  • Contains 1 LRRCT domain.
  • Contains 1 LRRNT domain.
Similarity:
  • Contains 1 LRR (leucine-rich) repeat.
genes like me logo Genes that share domains with GP9: view

Function for GP9 Gene

Molecular function for GP9 Gene

GENATLAS Biochemistry:
platelet glycoprotein IX (20kDa),non covalently bound to the GP1B complex in the von Willebrand receptor
UniProtKB/Swiss-Prot 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. GP-IX may provide for membrane insertion and orientation of GP-Ib.

Gene Ontology (GO) - Molecular Function for GP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 1730602
genes like me logo Genes that share ontologies with GP9: view
genes like me logo Genes that share phenotypes with GP9: view

Human Phenotype Ontology for GP9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GP9 Gene

MGI Knock Outs for GP9:
  • Gp9 tm1.1(KOMP)Vlcg

Animal Model Products

miRNA for GP9 Gene

miRTarBase miRNAs that target GP9

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GP9

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GP9 Gene

Localization for GP9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GP9 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GP9 Gene COMPARTMENTS Subcellular localization image for GP9 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2771955
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GP9: view

Pathways & Interactions for GP9 Gene

genes like me logo Genes that share pathways with GP9: view

Gene Ontology (GO) - Biological Process for GP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007596 blood coagulation IEA,TAS --
GO:0007597 blood coagulation, intrinsic pathway TAS --
GO:0007599 hemostasis IEA --
GO:0030168 platelet activation TAS --
genes like me logo Genes that share ontologies with GP9: view

No data available for SIGNOR curated interactions for GP9 Gene

Drugs & Compounds for GP9 Gene

(4) Drugs for GP9 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Quinine Approved Pharma Pore Blocker, Target, other 45

(5) Additional Compounds for GP9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GP9: view

Transcripts for GP9 Gene

mRNA/cDNA for GP9 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GP9 Gene

Glycoprotein IX (platelet):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GP9

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GP9 Gene

No ASD Table

Relevant External Links for GP9 Gene

GeneLoc Exon Structure for
GP9
ECgene alternative splicing isoforms for
GP9

Expression for GP9 Gene

mRNA expression in normal human tissues for GP9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GP9 Gene

This gene is overexpressed in Whole Blood (x41.0) and Spleen (x6.4).

Protein differential expression in normal tissues from HIPED for GP9 Gene

This gene is overexpressed in Platelet (36.3) and Peripheral blood mononuclear cells (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GP9 Gene



Protein tissue co-expression partners for GP9 Gene

NURSA nuclear receptor signaling pathways regulating expression of GP9 Gene:

GP9

SOURCE GeneReport for Unigene cluster for GP9 Gene:

Hs.1144
genes like me logo Genes that share expression patterns with GP9: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GP9 Gene

Orthologs for GP9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GP9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GP9 34 35
  • 98.12 (n)
dog
(Canis familiaris)
Mammalia GP9 34 35
  • 84.09 (n)
cow
(Bos Taurus)
Mammalia GP9 34 35
  • 76.82 (n)
mouse
(Mus musculus)
Mammalia Gp9 34 16 35
  • 76.6 (n)
rat
(Rattus norvegicus)
Mammalia Gp9 34
  • 75.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GP9 35
  • 44 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GP9 35
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves GP9 34 35
  • 50.88 (n)
lizard
(Anolis carolinensis)
Reptilia GP9 35
  • 39 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii GP9 35
  • 21 (a)
OneToOne
Species where no ortholog for GP9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GP9 Gene

ENSEMBL:
Gene Tree for GP9 (if available)
TreeFam:
Gene Tree for GP9 (if available)

Paralogs for GP9 Gene

Paralogs for GP9 Gene

(1) SIMAP similar genes for GP9 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GP9: view

Variants for GP9 Gene

Sequence variations from dbSNP and Humsavar for GP9 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121918036 Bernard-Soulier syndrome (BSS) [MIM:231200], Pathogenic 129,061,849(+) GGTGG(A/G)CTGCA reference, missense
rs121918037 Bernard-Soulier syndrome (BSS) [MIM:231200], Pathogenic 129,061,951(+) AGCCT(C/G/T)TGACC reference, missense
rs121918038 Bernard-Soulier syndrome (BSS) [MIM:231200], Pathogenic 129,061,759(+) AGCCC(C/T)GTTCC reference, missense
rs28933377 Bernard-Soulier syndrome (BSS) [MIM:231200], Pathogenic 129,061,906(+) CCACC(C/T)TCTGC reference, missense
rs28933378 Bernard-Soulier syndrome (BSS) [MIM:231200], Pathogenic 129,061,809(+) GCCCA(C/T)GTACC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GP9 Gene

Variant ID Type Subtype PubMed ID
esv3597730 CNV gain 21293372
esv3597733 CNV gain 21293372
nsv591650 CNV loss 21841781
nsv997717 CNV loss 25217958

Variation tolerance for GP9 Gene

Residual Variation Intolerance Score: 78.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.07; 60.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GP9 Gene

Human Gene Mutation Database (HGMD)
GP9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GP9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GP9 Gene

Disorders for GP9 Gene

MalaCards: The human disease database

(10) MalaCards diseases for GP9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bernard-soulier syndrome, type c
  • bernard-soulier syndrome, type a1
thrombocytopenia
gray platelet syndrome
  • gps
blood platelet disease
  • platelet disorder
glanzmann thrombasthenia
  • glanzmann's thrombasthenia
- elite association - COSMIC cancer census association via MalaCards
Search GP9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GPIX_HUMAN
  • Bernard-Soulier syndrome (BSS) [MIM:231200]: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. {ECO:0000269 PubMed:10583255, ECO:0000269 PubMed:11167791, ECO:0000269 PubMed:11758225, ECO:0000269 PubMed:12100158, ECO:0000269 PubMed:8481514, ECO:0000269 PubMed:9163595, ECO:0000269 PubMed:9886312}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GP9 Gene

Bernard-Soulier syndrome

Relevant External Links for GP9

Genetic Association Database (GAD)
GP9
Human Genome Epidemiology (HuGE) Navigator
GP9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GP9
genes like me logo Genes that share disorders with GP9: view

Publications for GP9 Gene

  1. A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. (PMID: 9163595) Noris P. … von dem Borne A.E.G.K. (Br. J. Haematol. 1997) 3 4 22 46 64
  2. Human platelet glycoprotein IX. Characterization of cDNA and localization of the gene to chromosome 3. (PMID: 2253772) Hickey M.J. … Roth G.J. (FEBS Lett. 1990) 2 3 4 22 64
  3. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. (PMID: 15477207) Noris P. … Balduini C.L. (Haematologica 2004) 3 22 46 64
  4. Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. (PMID: 11167791) Rivera C.E. … Rick M.E. (Br. J. Haematol. 2001) 3 4 22 64
  5. A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient. (PMID: 11758225) Wang Z. … Han Y. (Zhonghua Xue Ye Xue Za Zhi 2001) 3 4 22 64

Products for GP9 Gene

Sources for GP9 Gene

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