ITGA2B

integrin subunit alpha 2b

2 disorders 2 causative 17q21.31 gene with protein product

HGNC:6138 Monarch NCBI Gene 3674 ENSG00000005961 UniProt P08514 OMIM 607759

Previous symbols: GP2B. Aliases: CD41B, CD41, PPP1R93, GPIIb.

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.

Disorder	Relationship	Where the gene appears
Glanzmann Thrombasthenia	causative germline loss of function	mechanism: Biallelic Loss of Function in ITGA2B or ITGB3 subtype: GT1
Platelet-type Bleeding Disorder 16	causative germline gain of function	mechanism: ITGA2B Membrane-Proximal Activating Variants

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 disease	MOI	Classification	dismech entry
platelet-type bleeding disorder 16 MONDO:0008552	AD	Definitive 2023-11-06	Platelet-type Bleeding Disorder 16 causative
Glanzmann thrombasthenia MONDO:0100326	AR	Definitive 2019-09-04	Glanzmann Thrombasthenia causative

Mechanism modules · computed from kb/

primary_hemostatic_plug_failure via Glanzmann Thrombasthenia, Platelet-type Bleeding Disorder 16

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