About   Help   FAQ
Msh2 Gene Detail
Summary
  • Symbol
    Msh2
  • Name
    mutS homolog 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:101816
    NCBI Gene: 17685
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:87979960-88031141 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 57.87 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1936 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101816
 protein coding gene Chr17:87979758-88031141 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MSH2, mutS homolog 2
  • Synonyms
    COCA1, FCC1, hMSH2, HNPCC, HNPCC1, LCFS2, LYNCH1, MMRCS2, MSH-2
  • Links
    NCBI Gene ID: 4436
    neXtProt AC: NX_P43246
    UniProt: P43246

  • Chr Location
    2p21-p16.3; chr2:47403067-47709830 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Msh2 mouse models; 13 with human MSH2 associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
IDs
IDs
 View 1 model
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    32 phenotypes from 7 alleles in 10 genetic backgrounds
    40 phenotypes from multigenic genotypes
    166 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.
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
less
  • All GO Annotations
    114
  • GO References
    50
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
    819
  • Tissues
    101
  • cDNA Data
    138
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17685 NCBI Gene Model | MGI Sequence Detail 51182 C57BL/6J ±  kb
    transcript NM_008628 RefSeq | MGI Sequence Detail 3081 ZRU/MplStud  
    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
      (term hierarchy)
    • InterPro Domains
      IPR011184 DNA mismatch repair Msh2-type
      IPR045076 DNA mismatch repair MutS family
      IPR032642 DNA mismatch repair protein Msh2, ATP-binding cassette domain
      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
    • GlyGen
      P43247 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 143
      Genomic 2
      cDNA 141

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-18634, MGI:2146922
    References
    more
    • Summaries
      All 229
      Developmental Gene Expression 4
      Diseases 4
      Gene Ontology 50
      Phenotypes 166
    • 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:349875 Ghobashi AH, et al., Single-Cell Profiling Reveals the Impact of Genetic Alterations on the Differentiation of Inflammation-Induced Murine Colon Tumors. Cancers (Basel). 2024 May 28;16(11)
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory