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Gene Detail
SMAD family member 4
Synonyms D18Wsu70e, Dpc4, DPC4, Madh4, Smad 4
Feature Type protein coding gene
Genetic Map
Chromosome 18
49.51 cM
Detailed Genetic Map ± 1 cM

Mapping data(10)
Sequence Map
Chr18:73639009-73703780 bp, - strand
From VEGA annotation of GRCm38

  64772 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
HomoloGene:31310  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: Smad protein
Gene Tree: Smad4

Human Homolog SMAD4, SMAD family member 4
NCBI Gene ID 4089
neXtProt AC  NX_Q13485
Human Synonyms  DPC4, JIP, MADH4, MYHRS
Human Chr (Location)  18q21.1; chr18:51030213-51085042 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human SMAD4
alleles, and
All mutations/alleles(43) : Chemically induced (ENU)(4) Gene trapped(23) Spontaneous(1) Targeted(15)
Incidental mutations (data from Mutagenetix , APF )
Homozygotes for targeted null mutations exhibit impaired formation of extraembryonic membrane and endoderm and die prior to gastrulation. Heterozygotes develop polyposis of the glandular stomach and duodenum.
Human Diseases Modeled Using Mouse Smad4 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)
Smad4 interacts with 271 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
All GO classifications: (111 annotations)
Process anterior/posterior pattern specification, atrioventricular canal development, ...
Component activin responsive factor complex, centrosome, ...
Function chromatin binding, collagen binding, ...
External Resources: FuncBase
Literature Summary: (61 records)
Data Summary: Results (295)    Tissues (113)    Images (29)
Theiler Stages: 2, 3, 4, 5, 9, 11, 13, 17, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 7
RNA in situ 114
Northern blot 19
Western blot 52
RT-PCR 103
cDNA source data(15)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(30) Genomic(5) cDNA(18) Primer pair(6) Other(1)
Microarray probesets(6)
Other database
VEGA Gene ModelOTTMUSG00000021090 (Evidence)
Ensembl Gene ModelENSMUSG00000024515 (Evidence)
Entrez Gene17128 (Evidence)
DFCITC1574847, TC1622036, TC1642128, TC1761531
DoTSDT.101402140, DT.101721177, DT.534367
NIA Mouse Gene IndexU038549
Consensus CDS ProjectCCDS29337.1
International Mouse Knockout Project StatusSmad4
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021090 VEGA Gene Model | MGI Sequence Detail 64772 C57BL/6J ±  kb
transcript OTTMUST00000049897 VEGA | MGI Sequence Detail 3384 Not Applicable 
polypeptide OTTMUSP00000023201 VEGA | MGI Sequence Detail 551 Not Applicable 

For the selected sequences
All sequences(55) RefSeq(6) UniProt(5)
Polymorphisms RFLP(1) : SNPs within 2kb(353 from dbSNP Build 137)    SNPs within 2kb including multiple locations(373)
InterPro IPR013790 Dwarfin
InterPro IPR003619 MAD homology 1, Dwarfin-type
InterPro IPR013019 MAD homology, MH1
InterPro IPR001132 SMAD domain, Dwarfin-type
InterPro IPR017855 SMAD domain-like
InterPro IPR008984 SMAD/FHA domain
Protein Ontology PR:000000128 smad4
References (Earliest) J:40660 Anna CH, et al., Sequence and chromosomal mapping of the mouse homolog (Madh4) of the human DPC4/MADH4 gene. Mamm Genome. 1997 Jun;8(6):443-4
(Latest) J:211629 Palazuelos J, et al., TGFbeta signaling regulates the timing of CNS myelination by modulating oligodendrocyte progenitor cell cycle exit through SMAD3/4/FoxO1/Sp1. J Neurosci. 2014 Jun 4;34(23):7917-30
All references(282)
Disease annotation references (1)
accession IDs
MGD-MRK-33955, MGI:106263, MGI:2147379

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.19
The Jackson Laboratory