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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
  • GC03P129443

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 Glanzmann Thrombasthenia. Among its related pathways are Response to elevated platelet cytosolic Ca2+ 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 CIViC summary , 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
GH03G129223 2 FANTOM5 Ensembl ENCODE dbSUPER 17.8 +174.3 174349 12.0 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 SIN3A ARID4B DMAP1 KIAA1257 RAB43 CNBP GP9 ISY1 HMCES MBD4 RPL32P3 ACAD9 POU5F1P6
GH03G128616 1.7 FANTOM5 Ensembl ENCODE 19.4 -436.9 -436887 4.8 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 ZNF766 ZNF143 ZNF207 FOS GP9 POU5F1P6 DNAJB8 RPN1 GATA2 RAB7A KIAA1257 GC03P128663 LINC01565
GH03G129116 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.5 +64.6 64631 7.9 HDGF HNRNPUL1 FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 KIAA1257 ISY1 GP9 RAB43 EFCC1 MBD4 ACAD9 RPL32P3 HMCES CNBP
GH03G129024 1.5 Ensembl ENCODE dbSUPER 12 -29.1 -29074 2.9 ATF1 CREB3L1 SIN3A GLIS2 ELK1 ZNF143 ZNF207 FOS ZNF263 NFYC EFCC1 GP9 CNBP RAB43 KIAA1257 PIR62024
GH03G129013 1.5 Ensembl ENCODE dbSUPER 11.4 -39.3 -39281 5.3 PKNOX1 ATF1 FOXA2 ARNT TCF12 ZNF766 GATA2 CBX5 FOS KLF13 GP9 RAB43 ISY1 ACAD9 RAB7A LOC653712 PIR62024 KIAA1257
- Elite enhancer and/or Elite enhancer-gene association 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 posLast=6060
  • 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

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

No data available for UniProtKB/Swiss-Prot for GP9 Gene

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

CRISPR Products

miRNA for GP9 Gene

miRTarBase miRNAs that target GP9

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GP9
  • Applied Biological Materials Clones for GP9

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GP9 gene
Compartment Confidence
plasma membrane 5
extracellular 3
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 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 NAS,IEA --
GO:0007596 blood coagulation 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 46

(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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GP9
  • Applied Biological Materials Clones for GP9

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for GP9 Gene

  • Blood(4.6)
  • Liver(4.1)
  • Pancreas(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GP9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • reproductive
Organs:
Head and neck:
  • face
  • head
  • mouth
  • nose
Abdomen:
  • spleen
Pelvis:
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
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 Pathogenic, Bernard-Soulier syndrome (BSS) [MIM:231200] 129,061,849(+) GGTGG(A/G)CTGCA reference, missense
rs121918037 Pathogenic, Bernard-Soulier syndrome (BSS) [MIM:231200] 129,061,951(+) AGCCT(C/G/T)TGACC reference, missense
rs121918038 Pathogenic, Bernard-Soulier syndrome (BSS) [MIM:231200] 129,061,759(+) AGCCC(C/T)GTTCC reference, missense
rs28933377 Pathogenic, Bernard-Soulier syndrome (BSS) [MIM:231200] 129,061,906(+) CCACC(C/T)TCTGC reference, missense
rs28933378 Pathogenic, Bernard-Soulier syndrome (BSS) [MIM:231200] 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

(9) 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
glanzmann thrombasthenia
  • glanzmann's thrombasthenia
blood platelet disease
  • platelet disorder
gray platelet syndrome
  • bdplt4
inherited blood coagulation disease
  • blood coagulation disorders, inherited
- 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

  • Addgene plasmids for GP9

Sources for GP9 Gene

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