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Smad2 Gene Detail
Summary
  • Symbol
    Smad2
  • Name
    SMAD family member 2
  • Synonyms
    7120426M23Rik, Madh2, Madr2, Smad 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:108051
    NCBI Gene: 17126
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr18:76241580-76305731 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      64152 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 51.42 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    SMAD2, SMAD family member 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMAD2, SMAD family member 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    hMAD-2, hSMAD2, JV18, JV18-1, MADH2, MADR2
  • Links
    NCBI Gene ID: 4087
    neXtProt AC: NX_Q15796
    UniProt: Q15796

  • Chr Location
    18q21.1; chr18:47833095-47931193 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    93 phenotypes from 18 alleles in 17 genetic backgrounds
    64 phenotypes from multigenic genotypes
    9 images
    73 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.
Homozygous mutant embryos die at day 6.5-8.5 with multiple defects, including failed gastrulation, lack of mesoderm, visceral endoderm dysfunction and failure to form anterior-posterior axis. Heterozygotes may show gastrulation defects and lack mandible or eyes.
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 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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000036536 VEGA Gene Model | MGI Sequence Detail 64152 C57BL/6J ±  kb
    transcript OTTMUST00000093678 VEGA | MGI Sequence Detail 2857 Not Applicable  
    polypeptide OTTMUSP00000052023 VEGA | MGI Sequence Detail 467 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      428 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 3
      cDNA 21
      Primer pair 4
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-37087, MGI:2442937
    References
    more
    • Summaries
      All 371
      Developmental Gene Expression 190
      Gene Ontology 33
      Phenotypes 73
    • Earliest
      J:34765 Baker JC, et al., A novel mesoderm inducer, Madr2, functions in the activin signal transduction pathway. Genes Dev. 1996 Aug 1;10(15):1880-9
    • Latest
      J:257427 Yuan G, et al., TGF-beta signaling inhibits canonical BMP signaling pathway during palate development. Cell Tissue Res. 2018 Feb;371(2):283-291

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory