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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
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:63860358-63929341 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 34.40 cM, cytoband D
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1655 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1336883
 protein coding gene Chr9:63860358-63929374 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034933
 protein coding gene Chr9:63574823-63648032 (-)
A/J MGP_AJ_G0034913
 protein coding gene Chr9:61466629-61537342 (-)
AKR/J MGP_AKRJ_G0034843
 protein coding gene Chr9:62890045-62962471 (-)
BALB/cJ MGP_BALBcJ_G0034906
 protein coding gene Chr9:61190171-61260317 (-)
C3H/HeJ MGP_C3HHeJ_G0034616
 protein coding gene Chr9:63412240-63484241 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035425
 protein coding gene Chr9:65300432-65372673 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032336
 protein coding gene Chr9:61121888-61191555 (-)
CAST/EiJ MGP_CASTEiJ_G0033937
 protein coding gene Chr9:63562925-63643999 (-)
CBA/J MGP_CBAJ_G0034587
 protein coding gene Chr9:67558800-67634534 (-)
DBA/2J MGP_DBA2J_G0034746
 protein coding gene Chr9:61249469-61320778 (-)
FVB/NJ MGP_FVBNJ_G0034688
 protein coding gene Chr9:60550699-60621089 (-)
LP/J MGP_LPJ_G0034829
 protein coding gene Chr9:63871035-63945258 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034731
 protein coding gene Chr9:68871551-68945513 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035447
 protein coding gene Chr9:62994791-63069637 (-)
PWK/PhJ MGP_PWKPhJ_G0033641
 protein coding gene Chr9:61401803-61471454 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033475
 protein coding gene Chr9:63265082-63333591 (-)
WSB/EiJ MGP_WSBEiJ_G0034050
 protein coding gene Chr9:62893063-62967946 (-)



Homology
more
  • Human Ortholog
    SMAD6, SMAD family member 6
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMAD6, SMAD family member 6
  • Synonyms
    AOVD2, HsT17432, MADH6, MADH7
  • Links
    NCBI Gene ID: 4091
    neXtProt AC: NX_O43541
    UniProt: O43541

  • Chr Location
    15q22.31; chr15:66702236-66782849 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human SMAD6 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 2 alleles in 2 genetic backgrounds
    7 images
    16 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.
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
less
  • All GO Annotations
    92
  • GO References
    15
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    869
  • Tissues
    115
  • cDNA Data
    23
  • Literature Summary
    50
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036867 Ensembl Gene Model | MGI Sequence Detail 68984 C57BL/6J ±  kb
    transcript ENSMUST00000041029 Ensembl | MGI Sequence Detail 2971 Not Applicable  
    polypeptide ENSMUSP00000036285 Ensembl | MGI Sequence Detail 495 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 37
      cDNA 26
      Primer pair 5
      Other 6

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:5316754
    References
    more
    • Summaries
      All 109
      Developmental Gene Expression 50
      Gene Ontology 15
      Phenotypes 16
    • 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:345597 Quilez S, et al., Loss of Neogenin alters branchial arch development and leads to craniofacial skeletal defects. Front Cell Dev Biol. 2024;12:1256465
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory