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 zebrafish

Protein SuperFamily: Smad protein
Gene Tree: Smad4

Human homologs

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; chr18:48556583-48611412 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human SMAD4

Alleles and phenotypes

All alleles(43) : Targeted(15) Gene trapped(23) 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.

 
Human Diseases Modeled Using Mouse Smad4 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (106 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: (54 records)
Data Summary: Results (205)    Tissues (104)    Images (27)
Theiler Stages: 2, 3, 4, 5, 9, 11, 13, 17, 19, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	114
Northern blot	19
Western blot	9
RT-PCR	63

cDNA source data(15)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(29) Genomic(5) cDNA(18) Primer pair(5) 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 Knockout Project Status	Smad4

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021090	VEGA Gene Model | MGI Sequence Detail	64772	C57BL/6J
transcript	OTTMUST00000049897	VEGA | MGI Sequence Detail	3384	Not Applicable
polypeptide	OTTMUSP00000023201	VEGA | MGI Sequence Detail	551	Not Applicable

All sequences(51) RefSeq(2) UniProt(5)

Polymorphisms

RFLP(1) : SNPs(284 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194187 Qin J, et al., COUP-TFII inhibits TGF-beta-induced growth barrier to promote prostate tumorigenesis. Nature. 2013 Jan 10;493(7431):236-40
All references(252)

Other accession IDs

MGD-MRK-33955, MGI:106263, MGI:2147379