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Pms2 Gene Detail
Summary
  • Symbol
    Pms2
  • Name
    PMS1 homolog2, mismatch repair system component
  • Synonyms
    DNA mismatch repair, mismatch repair
  • Feature Type
    protein coding gene
  • IDs
    MGI:104288
    NCBI Gene: 18861
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:143846782-143870786 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 82.82 cM, cytoband G2
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    912 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104288
 protein coding gene Chr5:143846379-143922538 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030340
 protein coding gene Chr5:149212232-149238025 (+)
A/J MGP_AJ_G0030309
 protein coding gene Chr5:142808509-142833083 (+)
AKR/J MGP_AKRJ_G0030241
 protein coding gene Chr5:147258078-147283962 (+)
BALB/cJ MGP_BALBcJ_G0030326
 protein coding gene Chr5:144045403-144070586 (+)
C3H/HeJ MGP_C3HHeJ_G0030037
 protein coding gene Chr5:148102761-148128252 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030771
 protein coding gene Chr5:154674749-154698637 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027989
 protein coding gene Chr5:136563259-136587064 (+)
CAST/EiJ MGP_CASTEiJ_G0029442
 protein coding gene Chr5:147608132-147632909 (+)
CBA/J MGP_CBAJ_G0030007
 protein coding gene Chr5:161032369-161058555 (+)
DBA/2J MGP_DBA2J_G0030157
 protein coding gene Chr5:142566062-142590194 (+)
FVB/NJ MGP_FVBNJ_G0030112
 protein coding gene Chr5:141771564-141795505 (+)
LP/J MGP_LPJ_G0030243
 protein coding gene Chr5:149813970-149841840 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030143
 protein coding gene Chr5:163410469-163436277 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030811
 protein coding gene Chr5:147146077-147170937 (+)
PWK/PhJ MGP_PWKPhJ_G0029157
 protein coding gene Chr5:141667018-141691316 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028993
 protein coding gene Chr5:144884186-144911863 (+)
WSB/EiJ MGP_WSBEiJ_G0029515
 protein coding gene Chr5:147949908-147974517 (+)



Homology
more
  • Human Ortholog
    PMS2, PMS1 homolog 2, mismatch repair system component
  • Vertebrate Orthologs
    6
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PMS2, PMS1 homolog 2, mismatch repair system component
  • Synonyms
    HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMS2CL, PMSL2
  • Links
    NCBI Gene ID: 5395
    neXtProt AC: NX_P54278
    UniProt: P54278

  • Chr Location
    7p22.1; chr7:5970925-6009130 (-)  GRCh38
  • Human Ortholog
    PMS2P1, PMS1 homolog 2, mismatch repair system component pseudogene 1
  • Synonyms
    PMS2L1, PMS2L13, PMS2L6, PMS2L7, PMS2L8, PMS3, PMS8, PMSR1, PMSR2
  • Links
    NCBI Gene ID: 5379
    UniProt: A4D2B8

  • Chr Location
    7q22.1; chr7:100320640-100336307 (-)  GRCh38
  • Human Ortholog
    PMS2P2, PMS1 homolog 2, mismatch repair system component pseudogene 2
  • Synonyms
    PMS2L2, PMS4
  • Links
    NCBI Gene ID: 5380

  • Chr Location
    7q11.23; chr7:75343937-75359550 (-)  GRCh38
  • Human Ortholog
    PMS2P6, PMS1 homolog 2, mismatch repair system component pseudogene 6
  • Synonyms
    PMS2L14, PMS2L2, PMS2P2, PMS4
  • Links
    NCBI Gene ID: 729453
    UniProt: O95744

  • Chr Location
    7q11.23; chr7:73093644-73105389 (+)  GRCh38
Human Diseases
more
  • Diseases
    5 with human PMS2 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
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  • Phenotype Summary
    28 phenotypes from 4 alleles in 5 genetic backgrounds
    16 phenotypes from multigenic genotypes
    55 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.
Homozygotes for targeted null mutations exhibit microsatellite instability and develop a high incidence of lymphomas with some sarcomas after 6 months of age. Mutant males are sterile, with impaired synapsis and only abnormal spermatozoa.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    45
  • 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
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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
    817
  • Tissues
    100
  • cDNA Data
    66
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000079109 Ensembl Gene Model | MGI Sequence Detail 24005 C57BL/6J ±  kb
    transcript ENSMUST00000148011 Ensembl | MGI Sequence Detail 5482 Not Applicable  
    polypeptide ENSMUSP00000119875 Ensembl | MGI Sequence Detail 859 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000012914 mismatch repair endonuclease PMS2
      (term hierarchy)
    • EC
      3.1.-.-
    • InterPro Domains
      IPR014762 DNA mismatch repair, conserved site
      IPR002099 DNA mismatch repair protein MutL/Mlh/PMS
      IPR038973 DNA mismatch repair protein MutL/Mlh/Pms-like
      IPR013507 DNA mismatch repair protein, S5 domain 2-like
      IPR036890 Histidine kinase/HSP90-like ATPase superfamily
      IPR014790 MutL, C-terminal, dimerisation
      IPR042120 MutL, C-terminal domain, dimerisation subdomain
      IPR042121 MutL, C-terminal domain, regulatory subdomain
      IPR037198 MutL, C-terminal domain superfamily
      IPR020568 Ribosomal protein uS5 domain 2-type superfamily
      IPR014721 Small ribosomal subunit protein uS5 domain 2-type fold, subgroup
    • GlyGen
      P54279 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 70
      Genomic 1
      cDNA 69

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-25613, MGI:2141233
    References
    more
    • Summaries
      All 98
      Developmental Gene Expression 2
      Gene Ontology 21
      Phenotypes 55
    • Earliest
      J:47581 Nicolaides NC, et al., Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 1994 Sep 1;371(6492):75-80
    • Latest
      J:334637 Palmer N, et al., Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity. PLoS One. 2023;18(3):e0283590
    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)
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    Funding Information
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    11/12/2024
    MGI 6.24     		The Jackson Laboratory