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GP1BA

glycoprotein Ib platelet subunit alpha
2 disorders 2 causative 17p13.2 gene with protein product
HGNC:4439MonarchNCBI Gene 2811ENSG00000185245UniProt P07359OMIM 606672

Previous symbols: GP1B. Aliases: HPA-2, CD42b, GPIbalpha.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Bernard-Soulier Syndrome causative germline
mechanism: Biallelic Loss of Function in GP1BA, GP1BB, or GP9
subtype: A1; A2
scoped to subtype: A2
Platelet-Type von Willebrand Disease causative germline
mechanism: Hyperresponsive platelet GPIb-alpha binding to von Willebrand factor; Megakaryocyte proplatelet formation dysregulation
animal model: Mouse
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
platelet-type von Willebrand disease MONDO:0008332 AD Definitive
2020-05-27
Bernard-Soulier syndrome MONDO:0009276 AR Definitive
2020-05-27
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.