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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
  • Gene Overview
    MyGene.info: MSH6
Location & Maps
more
  • Sequence Map
    Chr17:87975050-87990883 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15834 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 57.87 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    MSH6, mutS homolog 6
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MSH6, mutS homolog 6
    Orthology source: HomoloGene, HGNC
  • Synonyms
    GTBP, GTMBP, HNPCC5, HSAP, p160
  • Links
    NCBI Gene ID: 2956
    neXtProt AC: NX_P52701

  • Chr Location
    2p16.3; chr2:47783082-47806953 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human MSH6 associations

Human Disease Mouse Models
       Colorectal Cancer, Hereditary Nonpolyposis, Type 5; HNPCC5   OMIM: 614350
Endometrial Cancer   OMIM: 608089
Mismatch Repair Cancer Syndrome; MMRCS   OMIM: 276300
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 3 alleles in 2 genetic backgrounds
    6 phenotypes from multigenic genotypes
    37 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
    45
  • Gene trapped
    39
  • Targeted
    6
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit premature death and are predisposed to tumor formation.
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 ENSMUSG00000005370 Ensembl Gene Model | MGI Sequence Detail 15834 C57BL/6J ±  kb
transcript ENSMUST00000005503 Ensembl | MGI Sequence Detail 4254 Not Applicable  
polypeptide ENSMUSP00000005503 Ensembl | MGI Sequence Detail 1358 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    73 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000010670 DNA mismatch repair protein Msh6
  • InterPro Domains
    IPR007861 DNA mismatch repair protein MutS, clamp
    IPR007860 DNA mismatch repair protein MutS, connector domain
    IPR007696 DNA mismatch repair protein MutS, core
    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
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR000313 PWWP domain
Molecular
Reagents
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  • All nucleic 19
    Genomic 3
    cDNA 14
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-35056, MGI:106600, MGI:2147004, MGI:2147080
References
more
  • Summaries
    All 71
    Developmental Gene Expression 4
    Gene Ontology 17
    Phenotypes 37
  • 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:234176 Zhao XN, et al., A MutSbeta-Dependent Contribution of MutSalpha to Repeat Expansions in Fragile X Premutation Mice?. PLoS Genet. 2016 Jul;12(7):e1006190

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory