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Gene: SMAD4 (SMAD family member 4) Homo sapiens
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Symbol: SMAD4
Name: SMAD family member 4
Description: Exhibits several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; SMAD binding activity; and protein homodimerization activity. Contributes to DNA-binding transcription factor activity and sequence-specific DNA binding activity. Involved in several processes, including positive regulation of transforming growth factor beta receptor signaling pathway; regulation of transcription, DNA-templated; and transmembrane receptor protein serine/threonine kinase signaling pathway. Localizes to several cellular components, including the SMAD protein complex; centrosome; and nucleus. Implicated in several diseases, including Lynch syndrome; female reproductive organ cancer (multiple); hereditary hemorrhagic telangiectasia; juvenile polyposis syndrome; and seminoma. Biomarker of chronic myeloid leukemia; female reproductive organ cancer (multiple); prostate carcinoma in situ; transitional cell carcinoma; and urinary system cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: deleted in pancreatic carcinoma locus 4; deletion target in pancreatic carcinoma 4; DPC4; hSMAD4; JIP; MAD homolog 4; MAD, mothers against decapentaplegic homolog 4; MADH4; mothers against decapentaplegic homolog 4; mothers against decapentaplegic, Drosophila, homolog of, 4; mothers against DPP homolog 4; MYHRS; SMAD 4; SMAD, mothers against DPP homolog 4; smad, mothers against dpp homolog 4 (drosophila)
Orthologs:
Mus musculus (house mouse) : Smad4 (SMAD family member 4)  MGI  Alliance
Rattus norvegicus (Norway rat) : Smad4 (SMAD family member 4)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Smad4 (SMAD family member 4)
Pan paniscus (bonobo/pygmy chimpanzee) : SMAD4 (SMAD family member 4)
Canis lupus familiaris (dog) : SMAD4 (SMAD family member 4)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Smad4 (SMAD family member 4)
Sus scrofa (pig) : SMAD4 (SMAD family member 4)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381851,030,213 - 51,085,042 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371848,556,583 - 48,611,412 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361846,810,611 - 46,860,145 (+)NCBINCBI36hg18NCBI36
Build 341846,810,610 - 46,860,144NCBI
Celera1845,413,367 - 45,468,195 (+)NCBI
Cytogenetic Map18q21.2NCBI
HuRef1845,411,927 - 45,466,923 (+)NCBIHuRef
CHM1_11848,551,997 - 48,606,836 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated