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BMP2

bone morphogenetic protein 2
3 disorders 2 causative 1 disputed 20p12.3 gene with protein product
HGNC:1069MonarchNCBI Gene 650ENSG00000125845UniProt P12643OMIM 112261

Previous symbols: BMP2A.

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
BMP2-Related Short Stature-Facial Dysmorphism-Skeletal Anomalies Syndrome causative germline
mechanism: BMP2 Haploinsufficiency
variant: BMP2 c.313C>T (p.Arg105Ter); BMP2 c.440C>G (p.Ser147Ter); NM_001200.3:c.-7-2_-7-1delAGinsCC; NM_001200.4:c.217_218dup (p.Val74ProfsTer8); NM_001200.4:c.231dup (p.Tyr78LeufsTer38)
Brachydactyly Type A2 causative germline
mechanism: Altered BMP2 Expression in the Developing Limb
Skeletal Fluorosis disputed germline
Mechanism modules · computed from kb/

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