SMAD2

SMAD family member 2

5 disorders 3 causative 1 no genetic record 1 untyped 18q21.1 gene with protein product

HGNC:6768 Monarch NCBI Gene 4087 ENSG00000175387 UniProt Q15796 OMIM 601366

Previous symbols: MADH2. Aliases: MADR2, JV18-1.

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
Congenital Heart Disease	causative	mechanism: Left-Right Patterning and Cardiac Looping Failure scoped to subtype: HTX
Familial Thoracic Aortic Aneurysm and Aortic Dissection	causative germline	mechanism: TGF-beta signaling dysregulation
Loeys-Dietz Syndrome 6	causative	mechanism: Heterozygous SMAD2 Loss-of-Function Variant
Marfan Syndrome	untyped Implicated
Loeys-Dietz Syndrome	no genetic record	mechanism: Paradoxical TGF-beta Signaling subtype: Loeys-Dietz Syndrome Type 6

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
congenital heart disease MONDO:0005453	AD	Definitive 2023-11-06	Congenital Heart Disease causative
Loeys-Dietz syndrome 6 MONDO:0030500	AD	Definitive 2025-08-01	Loeys-Dietz Syndrome no genetic record Loeys-Dietz Syndrome 6 causative

Mechanism modules · computed from kb/

aortopathy_tgfbeta_dysregulation via Familial Thoracic Aortic Aneurysm and Aortic Dissection, Loeys-Dietz Syndrome

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