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SMAD4 SMAD family member 4

Gene ID: 4089, updated on 23-Jan-2022
Gene type: protein coding
Also known as: JIP; DPC4; MADH4; MYHRS

Summary

This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasng blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Aug 2017]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
GeneReviews: Not available
Carcinoma of pancreas
MedGen: C0235974OMIM: 260350GeneReviews: Not available
See labs
Juvenile polyposis syndromeSee labs
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeSee labs
Myhre syndrome
MedGen: C0796081OMIM: 139210GeneReviews: Myhre Syndrome
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-12-16)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-16)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
18q21.2
Sequence:
Chromosome: 18; NC_000018.10 (51030213..51085042)
Total number of exons:
12

Links

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