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SMAD2

Chr 18q21.1

SMAD family member 2

Aliases:
MADR2, JV18-1
MANE:
ENST00000262160.11
OMIM: 601366 ↗NCBI: 4087 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ehlers Danlos syndrome with a likely monogenic cause

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Thoracic aortic aneurysm or dissection

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Thoracic aortic aneurysm or dissection (GMS)

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Pneumothorax - familial

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Clefting

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Holoprosencephaly

    Unknown

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Disease associations (Open Targets)

  • Loeys-Dietz syndrome 6

    0.73

  • congenital heart defects, multiple types, 8, with or without heterotaxy

    0.60

  • Loeys-Dietz syndrome

    0.56

  • colorectal adenocarcinoma

    0.55

  • cancer

    0.49

  • hereditary disease

    0.49

  • prostate carcinoma

    0.47

  • familial thoracic aortic aneurysm and aortic dissection

    0.43

  • colon adenocarcinoma

    0.41

  • cervical carcinoma

    0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

SMAD family member 2

Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. Promotes TGFB1-mediated transcription of odontoblastic differentiation genes in dental papilla cells (By similarity). Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. May act as a tumor suppressor in colorectal carcinoma (PubMed:8752209)

Diseases associated with SMAD2

Curated MONDO disease pages that list SMAD2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.