SMAD4 gene homepage

General information
Gene symbol SMAD4
Gene name SMAD family member 4
Chromosome 18
Chromosomal band q21.2
Imprinted Unknown
Genomic reference LRG_318
Transcript reference NM_005359.5
Associated with diseases JPHT, JPS, MYHRS
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 119
Unique public DNA variants reported 42
Individuals with public variants 137
Hidden variants 0
Date created May 20, 2020
Date last updated September 17, 2020
Version SMAD4:200917

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
HGNC 6770
Entrez Gene 4089
PubMed articles SMAD4
OMIM - Gene 600993
OMIM - Diseases JPHT (Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome)
JPS (Juvenile Polyposis Syndrome)
MYHRS (Myhre syndrome)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000205 18 SMAD family member 4 NM_005359.5 NP_005350.1 119

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