The SMAD4 gene homepage

General information
Gene symbol SMAD4
Gene name SMAD family member 4
Chromosome 18
Chromosomal band q21.1
Imprinted Unknown
Genomic reference LRG_318
Transcript reference NM_005359.5
Exon/intron information NM_005359.5 exon/intron table
Associated with diseases cancer, pancreatic, JPHT, JPS, MYHRS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Karl Heinimann, Robert Blatter, and Benjamin Tschupp
Total number of public variants reported 620
Unique public DNA variants reported 233
Individuals with public variants 615
Hidden variants 12
Download all this gene's data Download all data
Notes Eestablishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Alias DPC4
Date created April 29, 2010
Date last updated May 09, 2022
Version SMAD4:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005359.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 6770
Entrez Gene 4089
PubMed articles SMAD4
OMIM - Gene 600993
OMIM - Diseases cancer, pancreatic
JPHT (polyposis, juvenile/hereditary hemorrhagic telangiectasia syndrome (JPHT))
JPS (polyposis syndrome, juvenile (JPS))
MYHRS (Myhre syndrome (MYHRS))
GeneCards SMAD4
GeneTests SMAD4
Orphanet SMAD4

Active transcripts




NCBI ID     

NCBI Protein ID     

00019407 18 SMAD family member 4 NM_005359.5 NP_005350.1 620

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