GENE REFERENCE / HGNC:4440

GP1BB

glycoprotein Ib platelet subunit beta

protein-coding gene22q11.21Gene information

What does this gene do?

The GP1BB gene provides instructions for making a protein called glycoprotein 1b-beta (GPIbβ). This protein is one piece (subunit) of a protein complex called GPIb-IX-V, which plays a role in blood clotting. GPIb-IX-V is found on the surface of small cells called platelets, which circulate in blood and are an essential component of blood clots. The complex can attach (bind) to a protein called von Willebrand factor, fitting together like a lock and its key. Von Willebrand factor is found on the inside surface of blood vessels, particularly when there is an injury. Binding of the GPIb-IX-V complex to von Willebrand factor allows platelets to stick to the blood vessel wall at the site of the injury. These platelets form clots, plugging holes in the blood vessels to help stop bleeding.

To form the GPIb-IX-V complex, GPIbβ interacts with other protein subunits called GPIb-alpha, GPIX, and GPV, each of which is produced from a different gene. GPIbβ is essential for assembly of the complex at the platelet surface and helps stabilize the complex once it is formed.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2016-06.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Bernard-Soulier syndromeMONDO:0009276 · Evaluated 2019-06-06	Autosomal recessive	DefinitiveHemostasis/Thrombosis Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 592
Submissions for variants in or overlapping this gene: 721
Submissions explicitly reporting this gene: 274
Alleles reported pathogenic / likely pathogenic: 51
VariationIDs with uncertain significance: 101
VariationIDs with conflicting classifications: 6

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about GP1BB?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 51 alleles in GP1BB reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in GP1BB.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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