PMS2 (PMS1 homolog 2, mismatch repair system component)

Gene Basic Information

Gene Basic Information

symbol:
PMS2
locus group:
protein-coding gene
location:
7p22.1
gene_family:
alias symbol:
H_DJ0042M02.9|HNPCC4|MLH4|PMS-2
alias name:
None
entrez id:
5395
ensembl gene id:
ENSG00000122512
ucsc gene id:
uc003spl.4
refseq accession:
NM_000535
hgnc_id:
HGNC:9122
approved reserved:
1994-12-13

Chromosome Location

Chromosome Location

7p22.1

Gene Summary

Gene Summary

ChineseEnglish

This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2008]

OMIM entry for PMS2     Wikipedia entry for PMS2

Gene Sequence

Gene Sequence

Nucleotide sequence of PMS2:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK
41ELVENSLDAG ATNIDLKLKD YGVDLIEVSD NGCGVEEENF
81 EGLTLKHHT SKIQEFADLT QVETFGFRGE ALSSLCALSD
121VTISTCHASA KVGTRLMFDH NGKIIQKTPY PRPRGTTVSV
161Q QLFSTLPV RHKEFQRNIK KEYAKMVQVL HAYCIISAGI
201RVSCTNQLGQ GKRQPVVCTG GSPSIKENIG SVFGQKQLQS
241LI PFVQLPP SDSVCEEYGL SCSDALHNLF YISGFISQCT
281HGVGRSSTDR QFFFINRRPC DPAKVCRLVN EVYHMYNRHQ
321YPF VVLNIS VDSECVDINV TPDKRQILLQ EEKLLLAVLK
361TSLIGMFDSD VNKLNVSQQP LLDVEGNLIK MHAADLEKPM
401VEKQ DQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
441SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV
481SSSHG PSDP TDRAEVEKDS GHGSTSVDSE GFSIPDTGSH
521CSSEYAASSP GDRGSQEHVD SQEKAPKTDD SFSDVDCHSN
561QEDTGC KFR VLPQPTNLAT PNTKRFKKEE ILSSSDICQK
601LVNTQDMSAS QVDVAVKINK KVVPLDFSMS SLAKRIKQLH
641HEAQQSE GE QNYRKFRAKI CPGENQAAED ELRKEISKTM
681FAEMEIIGQF NLGFIITKLN EDIFIVDQHA TDEKYNFEML
721QQHTVLQG Q RLIAPQTLNL TAVNEAVLIE NLEIFRKNGF
761DFVIDENAPV TERAKLISLP TSKNWTFGPQ DVDELIFMLS
801DSPGVMCRP SRVKQMFASR ACRKSVMIGT ALNTSEMKKL
841ITHMGEMDHP WNCPHGRPTM RHIANLGVIS QN
Structure predicted by AlphaFold DB(UniProt: P54278). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of PMS2:           Showing partial SNPs
rs1062372       rs2302335       rs2302336       rs3735295       rs3735296       rs3757480       rs6976251       rs6976537       rs6977072       rs7799214       rs7803118       rs12702466       rs12702467       rs35316507       rs55652845       rs56354402       rs59870895      

Gene Expression

Gene Expression

Tissue expression of PMS2:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
AGCTCGAGTACAGAACCTG
59
TTAGACTCAGTACCACCTGC
59
GCTGAGAGCTCGAGTACAG
60
TTATACTTCTCGTCCGTGGC
60
TAAGCACTGCGGTAAAGGA
59
GATCAATATTAGTGGCACCAGC
60
CTAAGCACTGCGGTAAAGG
59
ATCAATATTAGTGGCACCAGC
59
GCTGAGAGCTCGAGTACAG
60
TATACTTCTCGTCCGTGGC
59
GAGCTCGAGTACAGAACCT
59
TAGACTCAGTACCACCTGC
58
TAAGCACTGCGGTAAAGGA
59
ATCAATATTAGTGGCACCAGC
59
AGCTCGAGTACAGAACCTG
59
TAGACTCAGTACCACCTGC
58
GAGAGCTCGAGTACAGAACC
60
TTATACTTCTCGTCCGTGGC
60

Gene Ontology

Subcellular localization of PMS2 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for PMS2:

GO ID
Protein
Source DB
GO:0005524
C9J167 (UniProtKB)
IEA
GO:0005654
C9J167 (UniProtKB)
IDA
GO:0005737
C9J167 (UniProtKB)
IDA
GO:0006298
C9J167 (UniProtKB)
IEA
GO:0015630
C9J167 (UniProtKB)
IDA
GO:0030983
C9J167 (UniProtKB)
IEA
GO:0032300
C9J167 (UniProtKB)
IEA
GO:0003677
P54278 (UniProtKB)
IDA
GO:0004519
P54278 (UniProtKB)
TAS
GO:0005515
P54278 (UniProtKB)
IPI
GO:0005515
P54278 (UniProtKB)
IPI
GO:0005515
P54278 (UniProtKB)
IPI
GO:0005515
P54278 (UniProtKB)
IPI
GO:0005515
P54278 (UniProtKB)
IPI
GO:0005524
P54278 (UniProtKB)
IEA
GO:0005634
P54278 (UniProtKB)
IC
GO:0005634
P54278 (UniProtKB)
IDA
GO:0005654
P54278 (UniProtKB)
IDA
GO:0005654
P54278 (UniProtKB)
TAS
GO:0005654
P54278 (UniProtKB)
TAS
GO:0005654
P54278 (UniProtKB)
TAS
GO:0005654
P54278 (UniProtKB)
TAS
GO:0005654
P54278 (UniProtKB)
TAS
GO:0005737
P54278 (UniProtKB)
IDA
GO:0006298
P54278 (UniProtKB)
IDA
GO:0006298
P54278 (UniProtKB)
IDA
GO:0006298
P54278 (UniProtKB)
TAS
GO:0015630
P54278 (UniProtKB)
IDA
GO:0016446
P54278 (UniProtKB)
IBA
GO:0016887
P54278 (UniProtKB)
IBA
GO:0032138
P54278 (UniProtKB)
IDA
GO:0032389
P54278 (UniProtKB)
IBA
GO:0042493
P54278 (UniProtKB)
IEA
GO:0090305
P54278 (UniProtKB)
IEA
GO:0090305
P54278 (UniProtKB)
IEA
GO:0003697
P54278 (UniProtKB)
IDA
GO:0032407
P54278 (UniProtKB)
IDA

Related microRNA

Related microRNA

microRNAs potentially regulating PMS2:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Turcot syndrome (disorder) 0.484071628 17 7 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Hereditary Nonpolyposis Colorectal Cancer 0.262258234 82 53 BeFree_CLINVAR_ORPHANET
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 0.24 1 2 CLINVAR_UNIPROT
Hereditary Nonpolyposis Colorectal Neoplasms 0.133264433 7 0 CTD_human_GAD_LHGDN
Neoplasm Metastasis 0.120271442 2 0 BeFree_CTD_human
Rhabdomyosarcoma 0.120271442 1 0 BeFree_CTD_human
Supratentorial Neoplasms 0.12 1 0 CTD_human
Neoplastic Syndromes, Hereditary 0.12 0 46 CLINVAR
Colorectal cancer, hereditary nonpolyposis, type 1 0.12 0 4 CLINVAR
Neuroectodermal Tumor, Primitive 0.12 1 0 CTD_human

Related Publications

Related Publications

Beyond Asbestos: Malignant Pleural Mesothelioma Revealing Lynch Syndrome Through Mismatch Repair Deficiency.
Vivanco S, Vega S, Muguruza A, Garzón A, Zabaleta Orozco SD, Hernández M Cureus 2026-01-00
Digital multiplex ligation-dependent probe amplification identifies exon-level copy number variants in patients with suspected hereditary cancer and negative next-generation sequencing results.
Durmaz CD, Bulut NS, Erkan DD, Kertmen N, Akçin ÖÇ, Dizdar Ö, Arık Z, Güleray Lafcı N, Aksoy S Mol Biol Rep IF: 3.2 2026-02-16
Global Proteomic Analysis of Colorectal Cancers Stratified by Microsatellite Instability Subtype Reveals Protein Differences.
Tobias F, Sekera ER, Xiong X, Fang F, Hampel H, Pearlman R, Liu X, Sun L, Hummon AB bioRxiv 2026-01-29
Artificial intelligence application in routine pathology: ChatGPT-4.0 and Gemini 2.5 pro performance in detection of MMR-deficiency in colorectal cancer.
Salzano S, Broggi G, Zanelli M, Zizzo M, Fabozzi M, Palicelli A, Koufopoulos N, Boutas I, Cazzato G, Caltabiano R Surg Oncol IF: 2.1 2026-04-00
Single-section assessment of DNA mismatch repair using PMS2/MSH6 double immunohistochemistry.
Hatano Y, Taniguchi K, Toji A, Terada S, Hamamoto H, Tanaka T, Lee SW, Hirose Y Hum Pathol IF: 3.0 2026-07-18
PMS1 loss defines distinct mismatch repair complex deficiencies across dog and human cancers.
Wilsker D, Begum A, Brooks A, Parchment RE, Doroshow JH Mol Cancer Ther IF: 6.9 2026-07-22
SOGUG Multidisciplinary Expert Panel Consensus on Updated Diagnosis and Characterization of Prostate Cancer Patients.
Gallardo E, Gómez-de-Iturriaga A, Muñoz-Rodríguez J, Chirivella-González I, González-Billababeita E, Martínez-Ballesteros C, Méndez-Vidal MJ, Mitjavila-Casanovas M, Pelechano Gómez P, González-Del-Alba A, López-Campos F Curr Oncol IF: 3.6 2026-01-20

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