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Smad4 Gene Detail
 Symbol
Name
ID
Smad4
MAD homolog 4 (Drosophila)
MGI:894293


Nomenclature History
Synonyms D18Wsu70e, DPC4, Dpc4, Madh4, Smad 4
Genetic Map
Chromosome 18
48.0 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 10)

Sequence Map
Chr18:73798663-73863434 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Smad4 ± 2 cM)
Protein SuperFamily: Smad protein
TreeFam: TF314923
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000021090 VEGA Gene Model | MGI Sequence Detail 64772 C57BL/6J ± Kb
transcript NM_008540 RefSeq | MGI Sequence Detail 3361 -
polypeptide P97471 UniProt | EBI | MGI Sequence Detail 551 Not Applicable
For the selected sequences
All sequences(27)
Alleles
and
phenotypes
All alleles(33) : Targeted, knock-out(7) Targeted, other(4) Gene trapped(17) Spontaneous(1) Chemically induced(4)
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.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (1)   Phenotype Images (2)  
Polymorphisms RFLP(1) SNPs within 2kb(284 from dbSNP Build 128)   SNPs within 2kb including multiple locations(296)
Gene Ontology
(GO)
classifications
All GO classifications: (49 annotations)
Process anterior/posterior pattern formation, branching involved in ureteric bud morphogenesis...
Component cytoplasm, intracellular...
Function chromatin binding, collagen binding...
External Resources: FuncBase
Expression Literature Summary: (39 records)
Data Summary: Assays (14)    Results (109)    Tissues (82)    Images (4)
Theiler Stages: 2,3,4,5,9,11,13,17,20,21,22,23,24,26,28
  Assay Type Assays   Results
      Western blot 2   9
      RT-PCR 3   27
      RNA in situ 6   54
      Northern blot 3   19
cDNA source data(14)
External Resources: Allen Brain Atlas  GENSAT  GEO  ArrayExpress 
Molecular
reagents
All nucleic(27) Genomic(5) cDNA(17) Primer pair(4) Other(1) Antibodies(2)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000024515
DoTS DT.101402140, DT.101721177, DT.534367
Consensus CDS Project CCDS29337.1
DFCI TC1574847, TC1622036, TC1642128, TC1761531
NIA Mouse Gene Index U038549
Entrez Gene 17128
VEGA Gene Model OTTMUSG00000021090
International Mouse Knockout Project Status Smad4
Protein
domains
InterPro ID Description
IPR001132 SMAD domain, Dwarfin-type
IPR003619 MAD homology 1, Dwarfin-type
IPR008984 SMAD/FHA domain
IPR013019 MAD homology, MH1
IPR013790 Dwarfin
IPR017855 SMAD domain-like
Graphical View of Protein Domain Structure
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:156253 Tateossian H et al., "Regulation of TGF-beta signalling by Fbxo11, the gene mutated in the Jeff otitis media mouse mutant." Pathogenetics 2009;2(1):5
All references(157)
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
Funding Information
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last database update
02/06/2010
MGI_4.32
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