Pathway candidateNCBI-verifiedprotein-coding

SMAD2

SMAD family member 2

NCBI Gene: 4087 Ensembl GeneCards UniProt: Q15796

Pathway candidate — not linked to PFS or PSSD by any record here

SMAD2 is in the library because it belongs to the signaling & transcription family. No study, report or commentary in the corpus names it, so a variant in SMAD2 is not, by itself, evidence of anything related to post-drug syndromes.

Gene summary

A protein-coding gene on chromosome 18 (cell signaling and transcription factors). The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma.

Source: NCBI Gene, accessed 2026-10-07.

Protein reference (UniProt)

Protein: SMAD family member 2
Function: 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.
Subcellular location: Cytoplasm; Nucleus.
Tissue specificity: Expressed at high levels in skeletal muscle, endothelial cells, heart and placenta.
Associated conditions: Congenital heart defects, multiple types, 8, with or without heterotaxy (CHTD8); Loeys-Dietz syndrome 6 (LDS6).

Source: UniProtKB/Swiss-Prot Q15796, release 2026_03, licensed CC BY 4.0. This is the protein’s normal biology, not evidence about post-drug syndromes; associated conditions are inherited disorders of the gene, not PFS, PSSD or PRSD.

Why its pathway is in the library

General signaling/transcription machinery; no direct post-drug-syndrome link established for most members — included for completeness of the panel.

Written for the whole signaling & transcription family, not for SMAD2 specifically.

Mentioned in 0 corpus records

No corpus record names SMAD2 directly yet. It is in the library because it sits in a pathway the corpus tracks (Signaling & transcription).

Also in cell signaling and transcription factors

All 52 genes

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Gene summary

Source: NCBI Gene, accessed 2026-10-07.

Protein reference (UniProt)

Protein: SMAD family member 2
Function: 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.
Subcellular location: Cytoplasm; Nucleus.
Tissue specificity: Expressed at high levels in skeletal muscle, endothelial cells, heart and placenta.
Associated conditions: Congenital heart defects, multiple types, 8, with or without heterotaxy (CHTD8); Loeys-Dietz syndrome 6 (LDS6).