View SMAD4 gene homepage

General information
Gene symbol SMAD4
Gene name SMAD family member 4
Chromosome 18
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_013013.2
Transcript reference NM_005359.5
Exon/intron information NM_005359.5
Associated with diseases JPHT, JPS, MYHRS, cancer, pancreatic
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Karl Heinimann
Total number of public variants reported 23
Unique public DNA variants reported 16
Individuals with public variants 83
Hidden variants 78
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 September 17, 2015
Version SMAD4:150917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/SMAD4
External URL Orphanet
HGNC 6770
Entrez Gene 4089
PubMed articles SMAD4
OMIM - Gene 600993
OMIM - Diseases JPHT (polyposis, juvenile/hereditary hemorrhagic telangiectasia syndrome (JPHT))
JPS (polyposis syndrome, juvenile (JPS))
MYHRS (Myhre syndrome (MYHRS))
cancer, pancreatic
HGMD SMAD4
GeneCards SMAD4
GeneTests SMAD4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00019407 18 SMAD family member 4 NM_005359.5 NP_005350.1 23


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