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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
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:76374651-76444034 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 51.42 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1175 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108051
 protein coding gene Chr18:76369898-76444819 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024567
 protein coding gene Chr18:76989537-77059910 (+)
A/J MGP_AJ_G0024534
 protein coding gene Chr18:73618252-73681087 (+)
AKR/J MGP_AKRJ_G0024505
 protein coding gene Chr18:75791992-75853144 (+)
BALB/cJ MGP_BALBcJ_G0024534
 protein coding gene Chr18:73825001-73889974 (+)
C3H/HeJ MGP_C3HHeJ_G0024302
 protein coding gene Chr18:75924482-75985773 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024980
 protein coding gene Chr18:79005520-79071474 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022410
 protein coding gene Chr18:72684167-72742860 (+)
CAST/EiJ MGP_CASTEiJ_G0023775
 protein coding gene Chr18:76146438-76220680 (+)
CBA/J MGP_CBAJ_G0024271
 protein coding gene Chr18:81737984-81815114 (+)
DBA/2J MGP_DBA2J_G0024401
 protein coding gene Chr18:73204168-73270667 (+)
FVB/NJ MGP_FVBNJ_G0024367
 protein coding gene Chr18:72560953-72623143 (+)
LP/J MGP_LPJ_G0024485
 protein coding gene Chr18:76867571-76931667 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024397
 protein coding gene Chr18:83086118-83155291 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025028
 protein coding gene Chr18:75951736-76014915 (+)
PWK/PhJ MGP_PWKPhJ_G0023519
 protein coding gene Chr18:73613942-73680509 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023323
 protein coding gene Chr18:76117232-76185769 (+)
WSB/EiJ MGP_WSBEiJ_G0023838
 protein coding gene Chr18:75894455-75971636 (+)



Homology
more
  • Human Ortholog
    SMAD2, SMAD family member 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMAD2, SMAD family member 2
  • Synonyms
    CHTD8, hMAD-2, hSMAD2, JV18, JV18-1, LDS6, MADH2, MADR2
  • Links
    NCBI Gene ID: 4087
    neXtProt AC: NX_Q15796
    UniProt: Q15796

  • Chr Location
    18q21.1; chr18:47808957-47931146 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with human SMAD2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    87 phenotypes from 17 alleles in 17 genetic backgrounds
    73 phenotypes from multigenic genotypes
    9 images
    97 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
less
  • All GO Annotations
    160
  • GO References
    43
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
    1466
  • Tissues
    405
  • cDNA Data
    20
  • Literature Summary
    250
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024563 Ensembl Gene Model | MGI Sequence Detail 69384 C57BL/6J ±  kb
    transcript ENSMUST00000168423 Ensembl | MGI Sequence Detail 8089 Not Applicable  
    polypeptide ENSMUSP00000130115 Ensembl | MGI Sequence Detail 467 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      Genomic 3
      cDNA 22
      Primer pair 9
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-37087, MGI:2442937
    References
    more
    • Summaries
      All 480
      Developmental Gene Expression 250
      Gene Ontology 43
      Phenotypes 97
    • 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:354455 Chen X, et al., SENP3-regulated Nodal signaling plays a potential role in cardiac left-right asymmetry development. Int J Biol Macromol. 2024 Aug;274(Pt 2):133294
    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)
    Citing These Resources
    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