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Msh2 Gene Detail
Summary
  • Symbol
    Msh2
  • Name
    mutS homolog 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:101816
    NCBI Gene: 17685
  • Gene Overview
    MyGene.info: MSH2
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:87672557-87723713 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 57.87 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    389 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101816
protein coding gene Chr17:87672330-87723713 (.)
129S1/SvImJ MGP_129S1SvImJ_G0024105
protein coding gene Chr17:91098565-91157068 (+)
A/J MGP_AJ_G0024064
protein coding gene Chr17:88166744-88218946 (+)
AKR/J MGP_AKRJ_G0024033
protein coding gene Chr17:89636242-89688322 (+)
BALB/cJ MGP_BALBcJ_G0024065
protein coding gene Chr17:87998870-88049502 (+)
C3H/HeJ MGP_C3HHeJ_G0023830
protein coding gene Chr17:90522332-90580354 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024510
protein coding gene Chr17:94231933-94287321 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021949
protein coding gene Chr17:83284446-83335666 (+)
CAST/EiJ MGP_CASTEiJ_G0023310
protein coding gene Chr17:91355029-91412234 (+)
CBA/J MGP_CBAJ_G0023804
protein coding gene Chr17:98230354-98288619 (+)
DBA/2J MGP_DBA2J_G0023932
protein coding gene Chr17:86575471-86626239 (+)
FVB/NJ MGP_FVBNJ_G0023898
protein coding gene Chr17:86096014-86146060 (+)
LP/J MGP_LPJ_G0024016
protein coding gene Chr17:91890588-91949419 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023926
protein coding gene Chr17:98060489-98131628 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024555
protein coding gene Chr17:90169751-90225975 (+)
PWK/PhJ MGP_PWKPhJ_G0023054
protein coding gene Chr17:86239855-86291433 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022865
protein coding gene Chr17:86914248-86971367 (+)
WSB/EiJ MGP_WSBEiJ_G0023375
protein coding gene Chr17:91002266-91054389 (+)



Homology
more
  • Human Ortholog
    MSH2, mutS homolog 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    MSH2, mutS homolog 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    COCA1, FCC1, hMSH2, HNPCC, HNPCC1, LCFS2
  • Links
    NCBI Gene ID: 4436
    neXtProt AC: NX_P43246
    UniProt: P43246

  • Chr Location
    2p21-p16.3; chr2:47403067-47634501 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Msh2 mouse models; 1 with human MSH2 associations

Human Disease Mouse Models
      
IDs
View 5 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 8 alleles in 11 genetic backgrounds
    34 phenotypes from multigenic genotypes
    132 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a number of different targeted mutations develop lymphomas. In addition, depending on the allele, mutants may show intestinal adenocarcinomas and reduced class switch recombination or adenocarcinomas and abnormal mismatch repair or squamous cell carcinomas and skin tumors.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17685 NCBI Gene Model | MGI Sequence Detail 51157 C57BL/6J ±  kb
    transcript NM_008628 RefSeq | MGI Sequence Detail 3081 C57BL/6  
    polypeptide P43247 UniProt | EBI | MGI Sequence Detail 935 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000010666 DNA mismatch repair protein Msh2
    • InterPro Domains
      IPR011184 DNA mismatch repair Msh2-type
      IPR032642 DNA mismatch repair protein Msh2
      IPR007861 DNA mismatch repair protein MutS, clamp
      IPR007860 DNA mismatch repair protein MutS, connector domain
      IPR007696 DNA mismatch repair protein MutS, core
      IPR036187 DNA mismatch repair protein MutS, core domain superfamily
      IPR000432 DNA mismatch repair protein MutS, C-terminal
      IPR007695 DNA mismatch repair protein MutS-like, N-terminal
      IPR016151 DNA mismatch repair protein MutS, N-terminal
      IPR036678 MutS, connector domain superfamily
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Molecular
    Reagents
    less
    • All nucleic 144
      Genomic 2
      cDNA 141
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-18634, MGI:2146922
    References
    more
    • Summaries
      All 190
      Developmental Gene Expression 4
      Diseases 4
      Gene Ontology 48
      Phenotypes 132
    • Earliest
      J:11842 Jinnah HA, et al., Brain purines in a genetic mouse model of Lesch-Nyhan disease. J Neurochem. 1993 Jun;60(6):2036-45
    • Latest
      J:262069 Thientosapol ES, et al., SAMHD1 enhances immunoglobulin hypermutation by promoting transversion mutation. Proc Natl Acad Sci U S A. 2018 May 8;115(19):4921-4926

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory