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GP9 glycoprotein IX platelet [ Homo sapiens (human) ]

Gene ID: 2815, updated on 5-Aug-2022

Summary

Official Symbol
GP9provided by HGNC
Official Full Name
glycoprotein IX plateletprovided by HGNC
Primary source
HGNC:HGNC:4444
See related
Ensembl:ENSG00000169704 MIM:173515; AllianceGenome:HGNC:4444
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GPIX; CD42a
Summary
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]
Expression
Biased expression in bone marrow (RPKM 1.0), spleen (RPKM 0.7) and 4 other tissues See more
Orthologs
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Genomic context

See GP9 in Genome Data Viewer
Location:
3q21.3
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (129054845..129062406)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (131805647..131807274)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128779622..128781249)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 92 (putative) Neighboring gene EF-hand and coiled-coil domain containing 1 Neighboring gene jumonji domain containing 4 pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene ISY1-RAB43 readthrough Neighboring gene RAB43, member RAS oncogene family

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

Preferred Names
platelet glycoprotein IX
Names
glycoprotein 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008715.1 RefSeqGene

    Range
    4966..6610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_477

mRNA and Protein(s)

  1. NM_000174.5NP_000165.1  platelet glycoprotein IX precursor

    See identical proteins and their annotated locations for NP_000165.1

    Status: REVIEWED

    Source sequence(s)
    BC030229, X52997
    Consensus CDS
    CCDS3055.1
    UniProtKB/Swiss-Prot
    P14770, Q92525
    Related
    ENSP00000303942.4, ENST00000307395.5
    Conserved Domains (4) summary
    smart00013
    Location:1955
    LRRNT; Leucine rich repeat N-terminal domain
    smart00082
    Location:85130
    LRRCT; Leucine rich repeat C-terminal domain
    sd00031
    Location:4676
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:5486
    LRR_4; Leucine Rich repeats (2 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    129054845..129062406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247374.4XP_005247431.2  platelet glycoprotein IX isoform X2

  2. XM_047447997.1XP_047303953.1  platelet glycoprotein IX isoform X1

    UniProtKB/Swiss-Prot
    Q92525

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    131805647..131807274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)