Pms2 PMS1 homolog2, mismatch repair system component [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pms2provided by MGI
Official Full Name: PMS1 homolog2, mismatch repair system componentprovided by MGI
Primary source: MGI:MGI:104288
See related: Ensembl:ENSMUSG00000075569 Ensembl:ENSMUSG00000079109 AllianceGenome:MGI:104288
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pmsl2
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 positive regulation of isotype switching to IgA isotypes; positive regulation of isotype switching to IgG isotypes; and somatic hypermutation of immunoglobulin genes. Acts upstream of or within mismatch repair and somatic recombination of immunoglobulin gene segments. Part of MutLalpha complex. Is expressed in cerebellum; lower urogenital tract; reproductive system; retina; and urethra epithelium. 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 several human genes including PMS2 (PMS1 homolog 2, mismatch repair system component). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in testis adult (RPKM 3.3), CNS E14 (RPKM 2.6) and 24 other tissues See more
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Genomic context

Location:: 5 82.82 cM; 5 G2

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (143846379..143922538)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (143909901..143972745)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity.
Title: Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity.
Pms2/Mlh1 and multiple uracil glycosylases act jointly, each one with a distinct strand bias, to enlarge the immunoglobulin gene mutation spectrum from G-C to A-T bases.
Title: Pms2 and uracil-DNA glycosylases act jointly in the mismatch repair pathway to generate Ig gene mutations at A-T base pairs.
Primary function of Pms2 during spermatogenesis is to stabilize Mlh1 levels prior to its critical crossing over function with Mlh3. An intact Pms2 ATPase domain is not essential for male fertility.
Title: An intact Pms2 ATPase domain is not essential for male fertility.
Pms2 specifically suppresses large expansions of a pathogenic trinucleotide repeat sequence in neuronal tissues, possibly acting independently of the canonical mismatch repair pathway.
Title: Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.
Down-regulation of PMS2 is associated with initiation and growth of neuroblastoma and brain tumour multicellular spheroids.
Title: Down-regulation of DNA mismatch repair enhances initiation and growth of neuroblastoma and brain tumour multicellular spheroids.
the integrity of the MLH1 ATPase domain is more critical than the PMS2 ATPase domain for normal DNA mismatch repair functions
Title: Conservation of functional asymmetry in the mammalian MutLα ATPase.
Data show that the PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance and tumor suppression.
Title: PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.
PMS2(R20Q) lacks proapoptotic activity, this polymorphic allele may modulate tumor responses to cisplatin among cancer patients
Title: Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q.
These results highlight an unprecedented role for MMR in mediating the cellular response to dysfunctional telomeres in vivo by attenuating p21 induction.
Title: Deficient mismatch repair improves organismal fitness and survival of mice with dysfunctional telomeres.
Data show partial functional redundancy between MLH3 and PMS2 orthologues for mutation avoidance and show a role for Mlh3 in gastrointestinal and extragastrointestinal tumor suppression.
Title: Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

U28724 (e-PCR)
- UniSTS:125711

AU048745 (e-PCR)
- UniSTS:145195

PMC153206P1 (e-PCR)
- UniSTS:271250

AW555130 (e-PCR)
- UniSTS:159470

Gene Ontology Provided by MGI

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 hydrolysis activity	IEA Inferred from Electronic Annotation 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
enables MutSalpha complex binding	IEA Inferred from Electronic Annotation more info
contributes_to MutSalpha complex binding	ISO Inferred from Sequence Orthology more info
enables endonuclease activity	IEA Inferred from Electronic Annotation more info
enables single base insertion or deletion binding	IEA Inferred from Electronic Annotation more info
enables single base insertion or deletion binding	ISO Inferred from Sequence Orthology more info
enables single-stranded DNA binding	IEA Inferred from Electronic Annotation 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	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within meiotic cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mismatch repair	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mismatch repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mismatch repair	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within mismatch repair	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of isotype switching to IgA isotypes	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of isotype switching to IgA isotypes	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of isotype switching to IgG isotypes	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of isotype switching to IgG isotypes	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somatic hypermutation of immunoglobulin genes	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MutLalpha complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MutLalpha complex	IDA Inferred from Direct Assay more info	PubMed
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

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Preferred Names: mismatch repair endonuclease PMS2

Names: DNA mismatch repair protein PMS2; PMS1 protein homolog 2; postmeiotic segregation increased 2

NCBI Reference Sequences (RefSeq)

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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)

NM_008886.3 → NP_032912.2 mismatch repair endonuclease PMS2

See identical proteins and their annotated locations for NP_032912.2

Status: VALIDATED

Source sequence(s)

AC121917

Consensus CDS

CCDS39375.1

UniProtKB/Swiss-Prot

B9EJ22, P54279

UniProtKB/TrEMBL

Q3UJP0

Related

ENSMUSP00000119875.2, ENSMUST00000148011.8

Conserved Domains (4) summary

smart00853
Location:675 → 818

MutL_C; MutL C terminal dimerisation domain

cd03484
Location:223 → 364

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 ...

TIGR00585
Location:13 → 344

mutl; DNA mismatch repair protein MutL

cl00075
Location:34 → 139

HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

143846379..143922538

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164890.1 → XP_036020783.1 mismatch repair endonuclease PMS2 isoform X13

UniProtKB/TrEMBL

A0A1D5RLN8

Related

ENSMUSP00000148444.2, ENSMUST00000212711.2

Conserved Domains (1) summary

cl23750
Location:458 → 505

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_036164887.1 → XP_036020780.1 mismatch repair endonuclease PMS2 isoform X10

Conserved Domains (2) summary

PLN03185
Location:4 → 98

PLN03185; phosphatidylinositol phosphate kinase; Provisional

cl23750
Location:548 → 595

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_036164889.1 → XP_036020782.1 mismatch repair endonuclease PMS2 isoform X11

Conserved Domains (2) summary

PLN03185
Location:12 → 80

PLN03185; phosphatidylinositol phosphate kinase; Provisional

cl23750
Location:523 → 570

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_036164884.1 → XP_036020777.1 mismatch repair endonuclease PMS2 isoform X4

UniProtKB/Swiss-Prot

E9PYQ0

Conserved Domains (2) summary

PLN03185
Location:2 → 259

PLN03185; phosphatidylinositol phosphate kinase; Provisional

cl23750
Location:650 → 697

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_036164880.1 → XP_036020773.1 mismatch repair endonuclease PMS2 isoform X1

UniProtKB/Swiss-Prot

E9PYQ0

Conserved Domains (2) summary

PLN03185
Location:106 → 405

PLN03185; phosphatidylinositol phosphate kinase; Provisional

cl23750
Location:782 → 829

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_036164881.1 → XP_036020774.1 mismatch repair endonuclease PMS2 isoform X1

UniProtKB/Swiss-Prot

E9PYQ0

Related

ENSMUSP00000132687.2, ENSMUST00000166847.8

Conserved Domains (2) summary

PLN03185
Location:106 → 405

PLN03185; phosphatidylinositol phosphate kinase; Provisional

cl23750
Location:782 → 829

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_030254204.2 → XP_030110064.1 mismatch repair endonuclease PMS2 isoform X15

Conserved Domains (1) summary

PLN03185
Location:4 → 98

PLN03185; phosphatidylinositol phosphate kinase; Provisional
XM_017320712.3 → XP_017176201.1 mismatch repair endonuclease PMS2 isoform X12

Conserved Domains (1) summary

PLN03185
Location:4 → 250

PLN03185; phosphatidylinositol phosphate kinase; Provisional
XM_017320710.2 → XP_017176199.1 mismatch repair endonuclease PMS2 isoform X9

Conserved Domains (2) summary

COG0323
Location:4 → 671

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 ...
XM_006504812.3 → XP_006504875.1 mismatch repair endonuclease PMS2 isoform X9

See identical proteins and their annotated locations for XP_006504875.1

Conserved Domains (2) summary

COG0323
Location:4 → 671

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 ...
XM_030254203.2 → XP_030110063.1 mismatch repair endonuclease PMS2 isoform X14

Conserved Domains (1) summary

COG0323
Location:201 → 493

MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
XM_036164879.1 → XP_036020772.1 mismatch repair endonuclease PMS2 isoform X1

UniProtKB/Swiss-Prot

E9PYQ0

Conserved Domains (2) summary

PLN03185
Location:106 → 405

PLN03185; phosphatidylinositol phosphate kinase; Provisional

cl23750
Location:782 → 829

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_036164885.1 → XP_036020778.1 mismatch repair endonuclease PMS2 isoform X5

UniProtKB/Swiss-Prot

E9PYQ0

Conserved Domains (1) summary

PLN03185
Location:106 → 405

PLN03185; phosphatidylinositol phosphate kinase; Provisional
XM_036164882.1 → XP_036020775.1 mismatch repair endonuclease PMS2 isoform X2

UniProtKB/Swiss-Prot

E9PYQ0

Conserved Domains (2) summary

PLN03185
Location:86 → 262

PLN03185; phosphatidylinositol phosphate kinase; Provisional

cl23750
Location:724 → 771

vATP-synt_E; ATP synthase (E/31 kDa) subunit
XM_036164883.1 → XP_036020776.1 mismatch repair endonuclease PMS2 isoform X3

UniProtKB/Swiss-Prot

E9PYQ0

Conserved Domains (1) summary

PLN03185
Location:106 → 405

PLN03185; phosphatidylinositol phosphate kinase; Provisional
XM_036164886.1 → XP_036020779.1 mismatch repair endonuclease PMS2 isoform X6

UniProtKB/Swiss-Prot

E9PYQ0

Conserved Domains (1) summary

PLN03185
Location:106 → 405

PLN03185; phosphatidylinositol phosphate kinase; Provisional
XM_030254201.1 → XP_030110061.1 mismatch repair endonuclease PMS2 isoform X7

Conserved Domains (1) summary

PLN03185
Location:106 → 405

PLN03185; phosphatidylinositol phosphate kinase; Provisional
XM_030254202.1 → XP_030110062.1 mismatch repair endonuclease PMS2 isoform X8

Conserved Domains (1) summary

PLN03185
Location:106 → 405

PLN03185; phosphatidylinositol phosphate kinase; Provisional
XM_036164888.1 → XP_036020781.1 mismatch repair endonuclease PMS2 isoform X10

Conserved Domains (2) summary

PLN03185
Location:4 → 98

PLN03185; phosphatidylinositol phosphate kinase; Provisional

cl23750
Location:548 → 595

vATP-synt_E; ATP synthase (E/31 kDa) subunit