U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Pms2 PMS1 homolog 2, mismatch repair system component [ Rattus norvegicus (Norway rat) ]

Gene ID: 288479, updated on 13-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Pms2provided by RGD
Official Full Name
PMS1 homolog 2, mismatch repair system componentprovided by RGD
Primary source
RGD:1305483
See related
Ensembl:ENSRNOG00000001040 AllianceGenome:RGD:1305483
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable ATP hydrolysis activity and single base insertion or deletion binding activity. Predicted to contribute to MutSalpha complex binding activity and single-stranded DNA binding activity. Involved in response to xenobiotic stimulus. Predicted to be located in several cellular components, including cytoplasmic ribonucleoprotein granule; cytosol; and nucleoplasm. Predicted to be part of MutLalpha complex. Human ortholog(s) of this gene implicated in Lynch syndrome; hereditary nonpolyposis colorectal cancer type 4; mismatch repair cancer syndrome; ovarian cancer; and urinary bladder cancer. Orthologous to human PMS2 (PMS1 homolog 2, mismatch repair system component). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Thymus (RPKM 72.0), Spleen (RPKM 63.9) and 9 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
12p11
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 12 NC_086030.1 (15790478..15814790, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 12 NC_051347.1 (10676818..10701161, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 12 NC_005111.4 (12714394..12738654, complement)

Chromosome 12 - NC_086030.1Genomic Context describing neighboring genes Neighboring gene CCZ1 homolog, vacuolar protein trafficking and biogenesis associated Neighboring gene radial spoke head 10 homolog B Neighboring gene small nucleolar RNA SNORA51 Neighboring gene aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 1 Neighboring gene ankyrin repeat domain 61

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. The elevated expression of a mismatch repair protein is a predictor for biochemical recurrence after radical prostatectomy. Norris AM, et al. Cancer Epidemiol Biomarkers Prev, 2009 Jan. PMID 19124481, Free PMC Article
  2. Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. Borràs E, et al. J Med Genet, 2013 Aug. PMID 23709753
  3. The expression of mismatched repair genes and their correlation with clinicopathological parameters and response to neo-adjuvant chemotherapy in breast cancer. Chintamani, et al. Int Semin Surg Oncol, 2007 Feb 14. PMID 17394628, Free PMC Article
  4. Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Hendriks YM, et al. Gastroenterology, 2006 Feb. PMID 16472587
  5. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. De Rosa M, et al. Oncogene, 2000 Mar 23. PMID 10763829

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATP-dependent DNA damage sensor activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA binding ISO
Inferred from Sequence Orthology
more info
  
contributes_to MutSalpha complex binding ISO
Inferred from Sequence Orthology
more info
  
enables single base insertion or deletion binding ISO
Inferred from Sequence Orthology
more info
  
contributes_to single-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within DNA repair ISO
Inferred from Sequence Orthology
more info
  
involved_in mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within mismatch repair ISO
Inferred from Sequence Orthology
more info
  
involved_in mismatch repair ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of isotype switching to IgA isotypes ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of isotype switching to IgG isotypes ISO
Inferred from Sequence Orthology
more info
  
involved_in response to xenobiotic stimulus IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in somatic hypermutation of immunoglobulin genes IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes ISO
Inferred from Sequence Orthology
more info
  
involved_in somatic hypermutation of immunoglobulin genes ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
part_of MutLalpha complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of MutLalpha complex ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

Go to the top of the page Help
Preferred Names
mismatch repair endonuclease PMS2
Names
PMS2 postmeiotic segregation increased 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001105908.1 → NP_001099378.1  mismatch repair endonuclease PMS2 isoform 2

    See identical proteins and their annotated locations for NP_001099378.1

    Status: PROVISIONAL

    Source sequence(s)
    CH474012
    UniProtKB/TrEMBL
    A6K1J3
    Conserved Domains (2) summary
    smart00853
    Location:358 → 501
    MutL_C; MutL C terminal dimerisation domain
    cl02783
    Location:1 → 53
    TopoII_MutL_Trans; MutL_Trans: transducer domain, having a ribosomal S5 domain 2-like fold, conserved in the C-terminal domain of type II DNA topoisomerases (Topo II) and DNA mismatch repair (MutL/MLH1/PMS2) proteins. This transducer domain is homologous to the second ...

  2. NM_001399795.1 → NP_001386724.1  mismatch repair endonuclease PMS2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000012
    UniProtKB/TrEMBL
    B1H246
    Related
    ENSRNOP00000069740.2, ENSRNOT00000078603.3

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

  1. NC_086030.1 Reference GRCr8

    Range
    15790478..15814790 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039089178.2 → XP_038945106.1  mismatch repair endonuclease PMS2 isoform X1

    Conserved Domains (2) summary
    COG0323
    Location:4 → 665
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    cd03484
    Location:40 → 181
    MutL_Trans_hPMS_2_like; MutL_Trans_hPMS2_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM2 (hPSM2). hPSM2 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second ...

  2. XM_017598288.3 → XP_017453777.1  mismatch repair endonuclease PMS2 isoform X1

    Conserved Domains (2) summary
    COG0323
    Location:4 → 665
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    cd03484
    Location:40 → 181
    MutL_Trans_hPMS_2_like; MutL_Trans_hPMS2_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM2 (hPSM2). hPSM2 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second ...

  3. XM_039089179.2 → XP_038945107.1  mismatch repair endonuclease PMS2 isoform X2

    Conserved Domains (1) summary
    TIGR00585
    Location:13 → 344
    mutl; DNA mismatch repair protein MutL

RNA

  1. XR_010056366.1 RNA Sequence

  2. XR_005491607.2 RNA Sequence

  3. XR_005491606.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous