Basic Information

Symbol
SMAD4
RNA class
mRNA
Alias
SMAD Family Member 4 DPC4 MADH4 Mothers Against Decapentaplegic Homolog 4 Deletion Target In Pancreatic Carcinoma 4 MAD Homolog 4 MAD, Mothers Against Decapentaplegic Homolog 4 (Drosophila) Mothers Against Decapentaplegic, Drosophila, Homolog Of, 4 SMAD, Mothers Against DPP Homolog 4 (Drosophila) Deleted In Pancreatic Carcinoma Locus 4 SMAD, Mothers Against DPP Homolog 4 Mothers Against DPP Homolog 4 SMAD 4 HSMAD4 MYHRS Smad4 JIP
Location (GRCh38)
18:51028528-51085045
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005359.6
Sequence length
8772.0 nt
GC content
0.4112

Transcripts

ID Sequence Length GC content
NM_001407041.1 NCBI
AUGCUCAGUGGCUUCUCGACAAGUUGGCAGCAACAACACGGCCCUGGUC… 8357 nt 0.3957
NM_001407042.1 NCBI
AUGCUCAGUGGCUUCUCGACAAGUUGGCAGCAACAACACGGCCCUGGUC… 8425 nt 0.3954
NM_001407043.1 NCBI
AUGCUCAGUGGCUUCUCGACAAGUUGGCAGCAACAACACGGCCCUGGUC… 1816 nt 0.5011
NM_005359.6 NCBI
AUGCUCAGUGGCUUCUCGACAAGUUGGCAGCAACAACACGGCCCUGGUC… 8772 nt 0.4112
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 increasing 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, May 2022] CIViC Summary for SMAD4 Gene

Forensic Context

No relevant information is available at the moment.