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Smad6
Gene Detail
 Symbol
Name
ID
Smad6
SMAD family member 6
MGI:1336883
Synonyms b2b390Clo, Madh6, Smad 6
Feature Type protein coding gene
Genetic Map
Chromosome 9
34.40 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr9:63953076-64022059 bp, - strand
From VEGA annotation of GRCm38

  68984 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4079  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: Smad6

Human
homologs
Human Homolog SMAD6, SMAD family member 6
NCBI Gene ID 4091
neXtProt AC  NX_O43541
Human Synonyms  AOVD2, HsT17432, MADH6, MADH7
Human Chr (Location)  15q21-q22; chr15:66702336-66782000 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SMAD6
Mutations,
alleles, and
phenotypes
All mutations/alleles(24) : Chemically induced (ENU)(1) Gene trapped(20) Targeted(3)
Incidental mutations (data from APF )
 
Homozygotes for a targeted null mutation exhibit hyperplasia of cardiac valves, septation defects, and usually, postnatal lethality. Survivors develop aortic ossification and hypertension as adults.
 
Phenotype Images(7)
Interactions
Smad6 interacts with 144 markers (Mir17, Mir19a, Mir19b-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (39 annotations)
Process BMP signaling pathway, cardiac vascular smooth muscle cell development, ...
Component intracellular, nucleus, ...
Function chromatin binding, co-SMAD binding, ...
External Resources: FuncBase
Expression
Literature Summary: (31 records)
Data Summary: Results (89)    Tissues (61)    Images (21)
Theiler Stages: 15, 17, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
RNA in situ 51
Western blot 6
RT-PCR 32
cDNA source data(21)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(27) cDNA(22) Primer pair(4) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000021505 (Evidence)
Ensembl Gene ModelENSMUSG00000036867 (Evidence)
Entrez Gene17130 (Evidence)
UniGene325757
DoTSDT.527171
NIA Mouse Gene IndexU030991
Consensus CDS ProjectCCDS23273.1
International Mouse Knockout Project StatusSmad6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021505 VEGA Gene Model | MGI Sequence Detail 68984 C57BL/6J ±  kb
transcript OTTMUST00000050977 VEGA | MGI Sequence Detail 2971 Not Applicable 
polypeptide OTTMUSP00000023928 VEGA | MGI Sequence Detail 495 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(6) UniProt(3)
Polymorphisms SNPs within 2kb(356 from dbSNP Build 137)
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:000000373 smad6
References (Earliest) J:43279 Imamura T, et al., Smad6 inhibits signalling by the TGF-beta superfamily [see comments]. Nature. 1997 Oct 9;389(6651):622-6
(Latest) J:200638 Islam SS, et al., Spatio-temporal distribution of Smads and role of Smads/TGF-beta/BMP-4 in the regulation of mouse bladder organogenesis. PLoS One. 2013;8(4):e61340
All references(73)
Other
accession IDs
MGI:5316754

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
09/09/2014
MGI 5.19
The Jackson Laboratory