Gp9 gene. This gene encodes a small membrane glycoprotein found on the surface of human platelets. Cys24Trp) in 5 cases or residue 95 (p. 2024] Genetic determinants of micronucleus formation in vivo. The GP9 gene provides instructions for making glycoprotein IX (GPIX), a protein found on platelets' surfaces. 19 This gene encodes a small membrane glycoprotein found on the surface of human platelets. Homozygous or compound heterozygous mutations in GP1BA, GP1BB, or GP9 genes are responsible for the autosomal recessive forms and mutations in the GP1BA gene for the rare autosomal dominant trait (6 – 9), whereas none are known in the GP5 gene (10). Used to study Bernard-Soulier syndrome. UniProt is the world's leading high-quality, comprehensive and freely accessible resource of protein sequence and functional information. Individuals with relevant features who have a clinical or suspected diagnosis of Bernard-Soulier syndrome Reproductive partners of individuals with a known pathogenic variant in the GP9 gene Functional Associations GP9 has 3,499 functional associations with biological entities spanning 7 categories (molecular profile, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 102 datasets. Gene Ontology Annotations Describes the biological processes, cellular components, and molecular functions associated with the GP9 gene, providing context for its role in the cell. Testing Strategy This test provides full coverage of all coding exons of the GP9 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. Analysis of the genes for two other components of the platelet GPIb:IX complex, namely GPIb beta and GPIX, showed two different missense mutations in the coding region of the GPIX gene: an A-->G transition in codon 21 results in conversion of an aspartic acid to glycine and an A-->G change in Martinez-Navajas and colleagues conducted a study on Bernard-Soulier syndrome type C (BSS type C), a congenital macrothrombocytopenia characterized by coagulation problems caused by GP9 mutations. Nature. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Cys24Arg, which was identified in a patient with mild clinical manifestations. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. An important paralog of this gene is GP1BB. Variants in human GP9 are associated with Bernard-Soulier syndrome, type C. Genes are classified into six different categories (enriched, group enriched, enhanced, low specificity and not detected) according to their RNA expression levels across the panel of cell lines. The cancer tissue page shows antibody staining of the protein in 20 different cancers. The GP9 gene encodes a subunit of a platelet surface membrane glycoprotein complex; this functions as a receptor for von Willebrand factor, which initiates the maintenance of hemostasis after injury. Biological context of GP9 DNA-sequence analysis revealed normal sequences for GPIb alpha and GPIX [9]. If The four polypeptide chains are coded by the genes GP1BA, GP1BB, GP9, and GP5, respectively. Diseases associated with GP9 include Bernard-Soulier Syndrome and Thrombocytopenia. Glycoprotein IX (platelet) (GP9) also known as CD42a (C luster of D ifferentiation 42a), is a human gene. It forms a 1-to-1 noncovalent complex with glycoprotein Ib May 12, 2024 · Gene target information for Gp9 - glycoprotein 9 platelet (house mouse). Tyr95Cys) in one case. Epub 2024 Feb 14. Jul 21, 2025 · Platelet glycoprotein IX (GP9) is 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. Adams DJ, Barlas B, McIntyre RE, Salguero I, van der Weyden L, Barros A, Vicente JR, Karimpour N, Haider A, Ranzani M, et al. Both parents were carriers of the same GP9 gene mutation. Moreover, we show that this new gene therapy tool rescues GPIX expression in MKs and platelets derived from GP9 -KO iPSCs cellular models and two independent BSS type C patients. Of note, the only known mutation among this group was p. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. Among its related pathways are Diseases of hemostasis and Defective binding of VWF variant to GPIb:IX:V. The GP9 gene provides instructions for making a protein called glycoprotein IX (GPIX). Explore the GP9 gene, its protein function, research studies, clinical significance, and potential therapeutic targets. The patient received follow-up in our pediatric hematology clinic; her last platelet count was 160 × 109/L, she was clinically stable, and her condition Expression of GP9 (CD42a, GPIX) in cancer tissue. 2024 Mar; 627 (8002):130-136. It forms a 1-to-1 noncovalent complex with glycoprotein Ib (GP Ib), a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor (VWF; 613160). Click the + buttons to view associations for GP9 from the datasets below. WES showed a GP9 gene mutation, confirming a diagnosis of BSS type c, as shown in Figure 2. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and View mouse Gp9 Chr6:87755054-87756750 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression Explore the GP9 gene, its protein function, research studies, clinical significance, and potential therapeutic targets. We define full coverage as >20X NGS reads or Sanger sequencing. The authors report gene therapy lentiviral vectors capable of correcting receptor functionality and phenotype of human disease models and hematopoietic stem cells from BSS type C patients ex vivo. Dec 25, 2024 · These findings are consistent with BSS. Oct 10, 2023 · GP9 glycoprotein IX platelet Gene ID: 2815, updated on 10-Oct-2023 Gene type: protein coding Also known as: GPIX; CD42a See all available tests in GTR for this gene Go to complete Gene record for GP9 Go to Variation Viewer for GP9 variants Summary This gene encodes a small membrane glycoprotein found on the surface of human platelets. A number sign (#) is used with this entry because Bernard-Soulier syndrome (BSS) has been found to be caused by mutation in the GP1BA gene (606672), the GP1BB gene (138720), or the GP9 gene (173515); the forms of BSS caused by homozygous or compound heterozygous mutation in these genes are here referred to as types A1, B, and C, respectively. Human ortholog (s) of this gene implicated in Bernard-Soulier syndrome. Genome Sep 4, 2019 · The GP9 gene encodes a subunit of a platelet surface membrane glycoprotein complex; this functions as a receptor for von Willebrand factor, which initiates the maintenance of hemostasis after injury. GPIX is a key part of the GPIb-IX-V complex, a receptor that plays a necessary role in the blood clotting process (hemostasis). [Nature. These patients had mutations of the GP9 gene affecting residue 24 (p. See Targeted Genes and Methodology Details for Platelet Disorders Comprehensive Gene Panel and Method Description for additional details. Jan 4, 2025 · Gene target information for GP9 - glycoprotein IX platelet (human). Learn about GP9 mutations, variants, and disease associations. Sep 12, 2024 · This gene encodes a small membrane glycoprotein found on the surface of human platelets. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for a variety of hereditary Articles about the Gp9 gene Genetic determinants of micronucleus formation in vivo. [5] Platelet glycoprotein IX (GP9) is a small membrane glycoprotein found on the surface of human platelets. Jul 17, 2025 · GP9 (Glycoprotein IX Platelet) is a Protein Coding gene. Sep 12, 2023 · We demonstrate that lentiviral expression of human WT GP9 restores GPIb-V-IX complex expression, localization and function in GP9 -KO cells. Type protein_coding_gene Location Chr: 23 Mapping Details/Browsers Description Acts upstream of or within regulation of blood coagulation and thrombocyte differentiation. . Cys24Arg and p. This protein is one piece (subunit) of a protein complex called GPIb-IX-V, which plays a role in blood clotting. Orthologous to human GP9 (glycoprotein IX platelet). 2vn0sl24fssxgksufh33r7wmrdrmthgyttwqxm0rf1x7