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Smad4 Gene Detail
Summary
  • Symbol
    Smad4
  • Name
    SMAD family member 4
  • Synonyms
    D18Wsu70e, Dpc4, DPC4, Madh4, Smad 4
  • Feature Type
    protein coding gene
  • IDs
    MGI:894293
    NCBI Gene: 17128
Location & Maps
more
  • Sequence Map
    Chr18:73639009-73703780 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      64772 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SMAD4, SMAD family member 4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SMAD4, SMAD family member 4
    Orthology source: HomoloGene
  • Synonyms
    DPC4, JIP, MADH4, MYHRS
  • Links
    NCBI Gene ID: 4089
    neXtProt AC: NX_Q13485

  • Chr Location
    18q21.1; chr18:51030213-51085042 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Smad4 mouse models; 4 with human SMAD4 associations

Human Disease Mouse Models
       Juvenile Polyposis Syndrome; JPS   OMIM: 174900 View 1 model
       Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome;   OMIM: 175050
Myhre Syndrome; MYHRS   OMIM: 139210
Pancreatic Cancer   OMIM: 260350
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    153 phenotypes from 18 alleles in 27 genetic backgrounds
    44 phenotypes from multigenic genotypes
    2 images
    167 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    45
  • Chemically induced (ENU)
    4
  • Gene trapped
    23
  • Spontaneous
    1
  • Targeted
    15
  • Transgenic
    1
  • Transposon induced
    1
  • Genomic Mutations
    1 involving Smad4
  • Incidental Mutations
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.
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 OTTMUSG00000021090 VEGA Gene Model | MGI Sequence Detail 64772 C57BL/6J ±  kb
transcript OTTMUST00000049897 VEGA | MGI Sequence Detail 3384 Not Applicable  
polypeptide OTTMUSP00000023201 VEGA | MGI Sequence Detail 551 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    358 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 31
    Genomic 5
    cDNA 19
    Primer pair 6
    Other 1

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-33955, MGI:106263, MGI:2147379
References
more
  • Summaries
    All 299
    Developmental Gene Expression 68
    Diseases 4
    Gene Ontology 47
    Phenotypes 167
  • 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:229717 Barthlott T, et al., A subpopulation of CD103(pos) ICOS(pos) Treg cells occurs at high frequency in lymphopenic mice and represents a lymph node specific differentiation stage. Eur J Immunol. 2015 Jun;45(6):1760-71

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory