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Smad6 Gene Detail
Summary
  • Symbol
    Smad6
  • Name
    SMAD family member 6
  • Synonyms
    b2b390Clo, Madh6, Smad 6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1336883
    NCBI Gene: 17130
Location & Maps
more
  • Sequence Map
    Chr9:63953076-64022059 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      68984 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 34.40 cM, cytoband D
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SMAD6, SMAD family member 6
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SMAD6, SMAD family member 6
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AOVD2, HsT17432, MADH6, MADH7
  • Links
    NCBI Gene ID: 4091
    neXtProt AC: NX_O43541

  • Chr Location
    15q22.31; chr15:66702100-66782000 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SMAD6 associations

Human Disease Mouse Models
       Aortic Valve Disease 2; AOVD2   OMIM: 614823
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    24 phenotypes from 2 alleles in 2 genetic backgrounds
    7 images
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    25
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    20
  • Targeted
    3
  • Genomic Mutations
    1 involving Smad6
  • Incidental Mutations
    APF , CvDC
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    353 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 29
    cDNA 23
    Primer pair 4
    Other 2

    Microarray probesets 3
Other
Accession IDs
less
MGI:5316754
References
more
  • Summaries
    All 76
    Developmental Gene Expression 34
    Gene Ontology 11
    Phenotypes 13
  • 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:222159 Li Y, et al., Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4

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
11/29/2016
MGI 6.06
The Jackson Laboratory