About   Help   FAQ
Msh6 Gene Detail
Summary
  • Symbol
    Msh6
  • Name
    mutS homolog 6
  • Synonyms
    GTBP, Gtmbp, Msh6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1343961
    NCBI Gene: 17688
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:88282490-88298320 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 57.87 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    431 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_1343961
 protein coding gene Chr17:88282478-88298320 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024107
 protein coding gene Chr17:91426148-91443249 (+)
A/J MGP_AJ_G0024067
 protein coding gene Chr17:88480351-88495897 (+)
AKR/J MGP_AKRJ_G0024036
 protein coding gene Chr17:89953611-89969360 (+)
BALB/cJ MGP_BALBcJ_G0024068
 protein coding gene Chr17:88309610-88326609 (+)
C3H/HeJ MGP_C3HHeJ_G0023833
 protein coding gene Chr17:90857748-90873735 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024513
 protein coding gene Chr17:94596082-94617263 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021951
 protein coding gene Chr17:83550899-83568656 (+)
CAST/EiJ MGP_CASTEiJ_G0023312
 protein coding gene Chr17:91683749-91704159 (+)
CBA/J MGP_CBAJ_G0023806
 protein coding gene Chr17:98594387-98614107 (+)
DBA/2J MGP_DBA2J_G0023935
 protein coding gene Chr17:86877800-86894115 (+)
FVB/NJ MGP_FVBNJ_G0023901
 protein coding gene Chr17:86396249-86412049 (+)
LP/J MGP_LPJ_G0024019
 protein coding gene Chr17:92224681-92240279 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023929
 protein coding gene Chr17:98421049-98437355 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024558
 protein coding gene Chr17:90498968-90517980 (+)
PWK/PhJ MGP_PWKPhJ_G0023057
 protein coding gene Chr17:86549541-86565842 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022868
 protein coding gene Chr17:87241447-87259205 (+)
WSB/EiJ MGP_WSBEiJ_G0023378
 protein coding gene Chr17:91311505-91331494 (+)



Homology
more
  • Human Ortholog
    MSH6, mutS homolog 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MSH6, mutS homolog 6
  • Synonyms
    GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3, MSH-6, p160
  • Links
    NCBI Gene ID: 2956
    neXtProt AC: NX_P52701
    UniProt: P52701

  • Chr Location
    2p16.3; chr2:47695530-47810101 (+)  GRCh38
Human Diseases
more
  • Diseases
    5 with human MSH6 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 4 alleles in 3 genetic backgrounds
    7 phenotypes from multigenic genotypes
    41 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 knock-out allele exhibit premature death and are predisposed to tumor formation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    73
  • GO References
    21
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
    769
  • Tissues
    28
  • cDNA Data
    14
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000005370 Ensembl Gene Model | MGI Sequence Detail 15831 C57BL/6J ±  kb
    transcript ENSMUST00000005503 Ensembl | MGI Sequence Detail 4251 Not Applicable  
    polypeptide ENSMUSP00000005503 Ensembl | MGI Sequence Detail 1358 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000010670 DNA mismatch repair protein Msh6
      (term hierarchy)
    • InterPro Domains
      IPR045076 DNA mismatch repair MutS family
      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
      IPR017261 DNA mismatch repair protein MutS/MSH
      IPR016151 DNA mismatch repair protein MutS, N-terminal
      IPR036678 MutS, connector domain superfamily
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR000313 PWWP domain
      IPR042778 Zinc finger CW-type PWWP domain protein ZCWPW1/ZCWPW2
    • GlyGen
      P54276 4 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 20
      Genomic 3
      cDNA 15
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-35056, MGI:106600, MGI:2147004, MGI:2147080
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 4
      Gene Ontology 21
      Phenotypes 41
    • Earliest
      J:43884 Papadopoulos N, et al., Mutations of GTBP in genetically unstable cells [see comments]. Science. 1995 Jun 30;268(5219):1915-7
    • Latest
      J:272963 Zanotti KJ, et al., DNA Breaks in Ig V Regions Are Predominantly Single Stranded and Are Generated by UNG and MSH6 DNA Repair Pathways. J Immunol. 2019 Mar 1;202(5):1573-1581
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory