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... See more...

Aliases for GP9 Gene

Aliases for GP9 Gene

  • Glycoprotein IX Platelet 2 3 5
  • Platelet Glycoprotein IX 2 3 4
  • 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
  • GC03P130025
  • GC03P130130
  • GC03P130149
  • GC03P129276
  • GC03P129362
  • GC03P129443
  • GC03P129535
  • GC03P129632
  • GC03P129718
  • GC03P129811
  • GC03P129930

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 and Thrombocytopenia. Among its related pathways are Hematopoietic cell lineage and Formation of Fibrin Clot (Clotting Cascade). An important paralog of this gene is GP1BB.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for GP9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GP9 Gene

Genomics for GP9 Gene

GeneHancer (GH) Regulatory Elements for GP9 Gene

Promoters and enhancers for GP9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J129056 Enhancer 0.8 ENCODE dbSUPER 500.7 +1.6 1593 0.1 NCOR1 NFIC ZNF592 TAL1 HDAC2 NCOA1 TCF12 DPF2 MTA2 SMARCA4 GP9 lnc-GP9-1 piR-51851
GH03J129060 Promoter/Enhancer 0.7 EPDnew dbSUPER 500.4 +5.3 5267 0.1 CBX1 ADNP KDM1A GP9 lnc-GP9-1 piR-51851
GH03J128616 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas 19.4 -436.9 -436886 4.8 ZNF217 CTCF TCF12 POLR2G USF1 FOS ZFX ZNF639 ZNF10 ZIC2 HSALNG0028815 GP9 POU5F1P6 DNAJB8 RPN1 GATA2 RAB7A KIAA1257 lnc-GATA2-1
GH03J129117 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.5 +65.2 65163 6.8 RXRA FOXK2 ZBTB40 SIN3A POLR2G SP1 ZFX CTCF POLR2A KDM6A RAB43 KIAA1257 ISY1 GP9 EFCC1 MBD4 ACAD9 RPL32P3 HMCES CNBP
GH03J129223 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 17.8 +172.7 172695 8.7 EP300 ZNF217 TCF12 NRF1 POLR2G NCOR1 JUND TEAD4 FOS ZIC2 KIAA1257 RAB43 GP9 CNBP ISY1 HMCES MBD4 RPL32P3 ACAD9 RAB7A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GP9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GP9

Top Transcription factor binding sites by QIAGEN in the GP9 gene promoter:
  • AML1a
  • HTF
  • Pax-4a

Genomic Locations for GP9 Gene

Genomic Locations for GP9 Gene
chr3:129,055,449-129,062,411
(GRCh38/hg38)
Size:
6,963 bases
Orientation:
Plus strand
chr3:128,779,610-128,781,253
(GRCh37/hg19)
Size:
1,644 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 Asn60
  • 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

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for GP9 Gene

Blocks:
  • Cysteine-rich flanking region, C-terminal
  • Leucine-rich repeat signature
  • Cysteine-rich flanking region, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GP9 Gene

GenScript: Design optimal peptide antigens:
  • Truncated glycoprotein IX (Platelet) (D1MER8_HUMAN)
  • Glycoprotein 9 (GPIX_HUMAN)
genes like me logo Genes that share domains with GP9: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GP9 Gene

Function for GP9 Gene

Molecular function for GP9 Gene

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.
GENATLAS Biochemistry:
platelet glycoprotein IX (20kDa),non covalently bound to the GP1B complex in the von Willebrand receptor

Phenotypes From GWAS Catalog for GP9 Gene

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 Gp9<tm1.1(KOMP)Vlcg>

miRNA for GP9 Gene

miRTarBase miRNAs that target GP9

Clone Products

  • Addgene plasmids 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
cytoskeleton 2
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GP9 Gene

Pathways & Interactions for GP9 Gene

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

SIGNOR curated interactions for GP9 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,NAS --
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

Drugs & Compounds for GP9 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Quinine Approved Pharma Pore Blocker, Inhibition, Inhibitor, Target, other 55

(4) 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

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids 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

Expression for GP9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for GP9 Gene



Protein tissue co-expression partners for GP9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 98.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GP9 31 30
  • 84.09 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GP9 31 30
  • 76.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gp9 17 31 30
  • 76.6 (n)
rat
(Rattus norvegicus)
Mammalia Gp9 30
  • 75.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GP9 31
  • 44 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GP9 31
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves GP9 31 30
  • 50.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GP9 31
  • 39 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii GP9 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GP9: view image

Paralogs for GP9 Gene

Paralogs for GP9 Gene

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

  • GPIX_HUMAN
  • D1MER8_HUMAN
genes like me logo Genes that share paralogs with GP9: view

Variants for GP9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GP9 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
639283 Uncertain Significance: not provided 129,062,227(+) C/A MISSENSE_VARIANT
721252 Benign: not provided 129,062,184(+) T/C SYNONYMOUS_VARIANT
723429 Benign: not provided 129,061,862(+) C/T SYNONYMOUS_VARIANT
728112 Likely Benign: not provided 129,061,819(+) G/A MISSENSE_VARIANT
750829 Likely Benign: not provided 129,062,093(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GP9 Gene

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)

Additional Variant Information for GP9 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GP9 Gene

MalaCards: The human disease database

(15) MalaCards diseases for GP9 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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

Additional Disease Information for GP9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 AE (British journal of haematology 1997) 3 4 23 41 54
  2. Human platelet glycoprotein IX. Characterization of cDNA and localization of the gene to chromosome 3. (PMID: 2253772) Hickey MJ … Roth GJ (FEBS letters 1990) 2 3 4 23 54
  3. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. (PMID: 15477207) Noris P … Balduini CL (Haematologica 2004) 3 23 41 54
  4. Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. (PMID: 11167791) Rivera CE … Rick ME (British journal of haematology 2001) 3 4 23 54
  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 = Zhonghua xueyexue zazhi 2001) 3 4 23 54

Products for GP9 Gene

  • Signalway ELISA kits for GP9
  • Signalway Proteins for GP9

Sources for GP9 Gene