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Smad4
Gene Detail
Symbol

Name
ID
Smad4
SMAD family member 4
MGI:894293
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
Vertebrate
homology
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

HCOP human homology predictions: SMAD4
Protein SuperFamily: Smad protein
Gene Tree: Smad4

Human
homologs
SMAD4, SMAD family member 4
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4089
neXtProt AC: NX_Q13485

Human Synonyms: DPC4, JIP, MADH4, MYHRS

Human Chr (Location): 18q21.1; chr18:51030213-51085042 (+)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human SMAD4

Mutations,
alleles, and
phenotypes
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 in Mice Using Smad4 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(2)
Interactions
Smad4 interacts with 270 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (127 annotations)
Process anterior/posterior pattern specification, atrioventricular canal development, ...
Component activin responsive factor complex, centrosome, ...
Function chromatin binding, collagen binding, ...
External Resources: FuncBase
Expression
Literature Summary: (66 records)
Data Summary: Results (295)    Tissues (113)    Images (35)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 7
RNA in situ 114
Northern blot 19
Western blot 52
RT-PCR 103
cDNA source data(15)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase smad4.1, smad4.2 ; ZFIN smad4    NEW 
Molecular
reagents
All nucleic(30) Genomic(5) cDNA(18) Primer pair(6) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000021090 (Evidence)
Ensembl Gene Model ENSMUSG00000024515 (Evidence)
Entrez Gene 17128 (Evidence)
DFCI TC1574847, TC1622036, TC1642128, TC1761531
DoTS DT.101402140, DT.101721177, DT.534367
NIA Mouse Gene Index U038549
PDB 3QSV
Consensus CDS Project CCDS29337.1
International Mouse Phenotyping Consortium Status Smad4
Sequences
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(57) RefSeq(8) UniProt(5)
Polymorphisms
RFLP(1) : SNPs within 2kb(353 from dbSNP Build 137)    SNPs within 2kb including multiple locations(373)
Protein-related
information
ResourceIDDescription
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:221163 Lim J, et al., BMP-Smad4 signaling is required for precartilaginous mesenchymal condensation independent of Sox9 in the mouse. Dev Biol. 2015 Apr 1;400(1):132-8
All references(291)
Disease annotation references (2)
Other
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
Citing These Resources
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory