Smad3
Gene Detail

Symbol Name ID

Smad3 SMAD family member 3 MGI:1201674

Synonyms

Madh3, Smad 3

Feature Type

protein coding gene

Genetic Map

Chromosome 9

34.22 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr9:63646767-63757994 bp, - strand From VEGA annotation of GRCm38   111228 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:55937  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: Smad protein
Gene Tree: Smad3

Human homologs

Human Homolog		SMAD3, SMAD family member 3
NCBI Gene ID		4088
neXtProt AC		NX_P84022
Human Synonyms		HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3
Human Chr (Location)		15q22.33; chr15:67358195-67487533 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SMAD3

Alleles and phenotypes

All alleles(10) : Targeted(7) Gene trapped(3)
 

Homozygotes for targeted mutations exhibit reduced mucosal immunity, chronic intestinal inflammation (sometimes with colonic adenocarcinoma), forelimb malformation, reduced mineralization of enamel, impaired growth of ovarian follicles, and develop osteoarthritis.

 
Human Diseases Modeled Using Mouse Smad3 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (149 annotations)

Process	activation of cysteine-type endopeptidase activity involved in apoptotic process, activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway, ...
Component	cytoplasm, intracellular, ...
Function	beta-catenin binding, chromatin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (71 records)
Data Summary: Results (166)    Tissues (79)    Images (35)
Theiler Stages: 2, 3, 4, 5, 7, 8, 10, 14, 15, 17, 19, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	115
In situ reporter (knock in)	3
Northern blot	6
Western blot	6
RT-PCR	36

cDNA source data(113)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(128) Genomic(4) cDNA(115) Primer pair(8) Other(1)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000021500 (Evidence)
Ensembl Gene Model	ENSMUSG00000032402 (Evidence)
Entrez Gene	17127 (Evidence)
UniGene	7320
DFCI	TC1582138, TC1630900
DoTS	DT.101354158, DT.101378988, DT.40177981, DT.97410937
NIA Mouse Gene Index	U030990
Consensus CDS Project	CCDS23272.1
International Mouse Knockout Project Status	Smad3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021500	VEGA Gene Model | MGI Sequence Detail	111228	C57BL/6J
transcript	OTTMUST00000050960	VEGA | MGI Sequence Detail	5090	Not Applicable
polypeptide	OTTMUSP00000023917	VEGA | MGI Sequence Detail	425	Not Applicable

All sequences(56) RefSeq(2) UniProt(6)

Polymorphisms

SNPs within 2kb(517 from dbSNP Build 137)

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:000000365	smad3

References

(Earliest) J:46375 Zhao J, et al., Abrogation of Smad3 and Smad2 or of Smad4 gene expression positively regulates murine embryonic lung branching morphogenesis in culture. Dev Biol. 1998 Feb 15;194(2):182-95
(Latest) J:201455 Ye P, et al., GM-CSF contributes to aortic aneurysms resulting from SMAD3 deficiency. J Clin Invest. 2013 May 1;123(5):2317-31
All references(320)

Other accession IDs

MGI:2143216