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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
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
  • Synonyms
    hMAD-2, hSMAD2, JV18, JV18-1, MADH2, MADR2
  • Links
    NCBI Gene ID: 4087
    neXtProt AC: NX_Q15796

  • Chr Location
    18q21.1; chr18:47833095-47931193 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    93 phenotypes from 19 alleles in 17 genetic backgrounds
    60 phenotypes from multigenic genotypes
    9 images
    67 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
    48
  • Chemically induced (ENU)
    1
  • Gene trapped
    22
  • Targeted
    24
  • Transposon induced
    1
  • Genomic Mutations
    1 involving Smad2
  • Incidental Mutations
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
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 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
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Molecular
Reagents
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  • All nucleic 29
    Genomic 3
    cDNA 21
    Primer pair 4
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-37087, MGI:2442937
References
more
  • Summaries
    All 295
    Developmental Gene Expression 165
    Gene Ontology 33
    Phenotypes 67
  • 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:231522 Ahlfeld SK, et al., Initial Suppression of Transforming Growth Factor-beta Signaling and Loss of TGFBI Causes Early Alveolar Structural Defects Resulting in Bronchopulmonary Dysplasia. Am J Pathol. 2016 Apr;186(4):777-93

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
06/15/2016
MGI 6.04
The Jackson Laboratory