U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PMS2 PMS1 homolog 2, mismatch repair system component [ Homo sapiens (human) ]

Gene ID: 5395, updated on 14-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
PMS2provided by HGNC
Official Full Name
PMS1 homolog 2, mismatch repair system componentprovided by HGNC
Primary source
HGNC:HGNC:9122
See related
Ensembl:ENSG00000122512 MIM:600259; AllianceGenome:HGNC:9122
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MLH4; PMS-2; PMSL2; HNPCC4; LYNCH4; MMRCS4; PMS2CL
Summary
The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
Expression
Ubiquitous expression in brain (RPKM 6.7), thyroid (RPKM 5.5) and 25 other tissues See more
Orthologs
all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See PMS2 in Genome Data Viewer
Location:
7p22.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (5970925..6009106, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6088690..6126871, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6010556..6048737, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 556, pseudogene Neighboring gene oncomodulin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25613 Neighboring gene CCZ1 homolog, vacuolar protein trafficking and biogenesis associated Neighboring gene nonconserved acetylation island sequence 61 enhancer Neighboring gene radial spoke head 10 homolog B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5987517-5988017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6047103-6047794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6065935-6066435 Neighboring gene small nucleolar RNA, H/ACA box 80D 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Elevated levels of the mismatch repair protein PMS2 are associated with prostate cancer. Norris AM, et al. Prostate, 2007 Feb 1. PMID 17044039
  2. A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. Li J, et al. J Mol Diagn, 2015 Sep. PMID 26320870
  3. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Senter L, et al. Gastroenterology, 2008 Aug. PMID 18602922, Free PMC Article
  4. Biallelic PMS2 mutations and a distinctive childhood cancer syndrome. Tan TY, et al. J Pediatr Hematol Oncol, 2008 Mar. PMID 18376293
  5. Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency. Mork ME, et al. Fam Cancer, 2016 Oct. PMID 27017610, Free PMC Article

See all (250) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk.
    Title: In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk.
  2. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
    Title: A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
  3. Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.
    Title: Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.
  4. PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.
    Title: PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.
  5. Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk.
    Title: Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk.
  6. Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma.
    Title: Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma.
  7. Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study.
    Title: Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study.
  8. Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.
    Title: Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.
  9. Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.
    Title: Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.
  10. Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations with clinical data in rectal mucinous adenocarcinoma.
    Title: Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations with clinical data in rectal mucinous adenocarcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (150)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in PMS2 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Lynch syndrome
MedGen: C4552100 GeneReviews: Lynch Syndrome
Compare labs
Lynch syndrome 4
MedGen: C1838333 OMIM: 614337 GeneReviews: Not available
Compare labs
Mismatch repair cancer syndrome 4
MedGen: C5436817 OMIM: 619101 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See Variation Viewer (GRCh37.p13)

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

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 ATP-dependent H2AZ histone chaperone activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent H3-H4 histone complex chaperone activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA clamp loader activity IEA
Inferred from Electronic Annotation
more info
  
contributes_to MutSalpha complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin extrusion motor activity IEA
Inferred from Electronic Annotation
more info
  
enables cohesin loader activity IEA
Inferred from Electronic Annotation
more info
  
enables endonuclease activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single base insertion or deletion binding IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to single-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in chromatin looping IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mismatch repair IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mismatch repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mismatch repair TAS
Traceable Author Statement
more info
  
involved_in positive regulation of isotype switching to IgA isotypes IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of isotype switching to IgG isotypes IEA
Inferred from Electronic Annotation
more info
  
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
  
involved_in somatic recombination of immunoglobulin gene segments IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of MutLalpha complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IC
Inferred by Curator
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
mismatch repair endonuclease PMS2
Names
DNA mismatch repair protein PMS2
PMS1 homolog 2, mismatch repair protein
PMS1 protein homolog 2
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.

Genomic

  1. NG_008466.1 RefSeqGene

    Range
    5001..40868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_161

mRNA and Protein(s)

  1. NM_000535.7 → NP_000526.2  mismatch repair endonuclease PMS2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
    Consensus CDS
    CCDS5343.1
    UniProtKB/Swiss-Prot
    B2R610, P54278, Q52LH6, Q5FBW9, Q5FBX1, Q5FBX2, Q75MR2
    UniProtKB/TrEMBL
    A0A8V8TP72
    Related
    ENSP00000265849.7, ENST00000265849.12
    Conserved Domains (4) summary
    smart00853
    Location:678 → 821
    MutL_C; MutL C terminal dimerisation domain
    cd03484
    Location:222 → 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 → 149
    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

  2. NM_001322003.2 → NP_001308932.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, CR981250, DA774159, DB548617
    Consensus CDS
    CCDS87474.1
    UniProtKB/TrEMBL
    A0A2R8Y6S3, Q5FBW8
    Related
    ENSP00000493814.1, ENST00000642456.1
    Conserved Domains (2) summary
    smart00853
    Location:543 → 686
    MutL_C; MutL C terminal dimerisation domain
    cd03484
    Location:87 → 229
    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. NM_001322004.2 → NP_001308933.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DB548617
    Consensus CDS
    CCDS87474.1
    UniProtKB/TrEMBL
    A0A2R8Y6S3, Q5FBW8
    Related
    ENSP00000495524.1, ENST00000642292.1
    Conserved Domains (2) summary
    smart00853
    Location:543 → 686
    MutL_C; MutL C terminal dimerisation domain
    cd03484
    Location:87 → 229
    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 ...

  4. NM_001322005.2 → NP_001308934.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
    Consensus CDS
    CCDS87474.1
    UniProtKB/TrEMBL
    A0A2R8Y6S3, Q5FBW8
    Related
    ENSP00000514619.1, ENST00000699818.1
    Conserved Domains (2) summary
    smart00853
    Location:543 → 686
    MutL_C; MutL C terminal dimerisation domain
    cd03484
    Location:87 → 229
    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 ...

  5. NM_001322006.2 → NP_001308935.1  mismatch repair endonuclease PMS2 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
    Consensus CDS
    CCDS94051.1
    UniProtKB/TrEMBL
    A0A8V8TP72, A0A8V8TQG9
    Related
    ENSP00000514561.1, ENST00000699752.1
    Conserved Domains (4) summary
    smart00853
    Location:626 → 769
    MutL_C; MutL C terminal dimerisation domain
    cd03484
    Location:222 → 332
    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 → 332
    mutl; DNA mismatch repair protein MutL
    cl00075
    Location:34 → 149
    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

  6. NM_001322007.2 → NP_001308936.1  mismatch repair endonuclease PMS2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
    Consensus CDS
    CCDS83155.1
    UniProtKB/TrEMBL
    C9J167, Q5FBW8
    Conserved Domains (2) summary
    smart00853
    Location:572 → 715
    MutL_C; MutL C terminal dimerisation domain
    cd03484
    Location:116 → 258
    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 ...

  7. NM_001322008.2 → NP_001308937.1  mismatch repair endonuclease PMS2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
    Consensus CDS
    CCDS83155.1
    UniProtKB/TrEMBL
    C9J167, Q5FBW8
    Related
    ENSP00000514568.1, ENST00000699760.1
    Conserved Domains (2) summary
    smart00853
    Location:572 → 715
    MutL_C; MutL C terminal dimerisation domain
    cd03484
    Location:116 → 258
    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 ...

  8. NM_001322009.2 → NP_001308938.1  mismatch repair endonuclease PMS2 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617, T93906
    Consensus CDS
    CCDS94050.1
    UniProtKB/TrEMBL
    A0A8V8TQ92, Q5FBW8
    Related
    ENSP00000514622.1, ENST00000699821.1
    Conserved Domains (2) summary
    smart00853
    Location:543 → 697
    MutL_C; MutL C terminal dimerisation domain
    cd03484
    Location:87 → 229
    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 ...

  9. NM_001322010.2 → NP_001308939.1  mismatch repair endonuclease PMS2 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
    Consensus CDS
    CCDS94049.1
    UniProtKB/TrEMBL
    A0A8V8TP61, Q5FBW8
    Conserved Domains (1) summary
    cl28386
    Location:2 → 669
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

  10. NM_001322011.2 → NP_001308940.1  mismatch repair endonuclease PMS2 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BC143397, BP251389, BX537558, DA774159, DB548617
    UniProtKB/Swiss-Prot
    P54278
    UniProtKB/TrEMBL
    B4DGM0, Q7Z3Q2
    Conserved Domains (2) summary
    smart00853
    Location:367 → 510
    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 ...

  11. NM_001322012.2 → NP_001308941.1  mismatch repair endonuclease PMS2 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BC143397, BP251389, BX537558, DA774159, DB548617
    UniProtKB/Swiss-Prot
    P54278
    UniProtKB/TrEMBL
    B4DGM0, Q7Z3Q2
    Conserved Domains (2) summary
    smart00853
    Location:367 → 510
    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 ...

  12. NM_001322013.2 → NP_001308942.1  mismatch repair endonuclease PMS2 isoform h

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
    Consensus CDS
    CCDS94048.1
    UniProtKB/TrEMBL
    A0A8V8TP84, Q5FBW8
    Related
    ENSP00000514570.1, ENST00000699762.1
    Conserved Domains (2) summary
    smart00853
    Location:487 → 630
    MutL_C; MutL C terminal dimerisation domain
    cd03484
    Location:42 → 173
    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 ...

  13. NM_001322014.2 → NP_001308943.1  mismatch repair endonuclease PMS2 isoform i

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617, T93906
    Consensus CDS
    CCDS94052.1
    UniProtKB/TrEMBL
    A0A8V8TP72, A0A8V8TQ50
    Related
    ENSP00000514574.1, ENST00000699766.1
    Conserved Domains (4) summary
    smart00853
    Location:678 → 832
    MutL_C; MutL C terminal dimerisation domain
    cd03484
    Location:222 → 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 → 149
    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

  14. NM_001322015.2 → NP_001308944.1  mismatch repair endonuclease PMS2 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
    UniProtKB/TrEMBL
    Q5FBW8
    Related
    ENSP00000514614.1, ENST00000699811.1
    Conserved Domains (2) summary
    smart00853
    Location:575 → 718
    MutL_C; MutL C terminal dimerisation domain
    cd03484
    Location:119 → 261
    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 ...

  15. NM_001406866.1 → NP_001393795.1  mismatch repair endonuclease PMS2 isoform k

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A8V8TNX6
    Related
    ENSP00000514637.1, ENST00000699839.1

  16. NM_001406868.1 → NP_001393797.1  mismatch repair endonuclease PMS2 isoform l

    Status: REVIEWED

    Source sequence(s)
    AC005995

  17. NM_001406869.1 → NP_001393798.1  mismatch repair endonuclease PMS2 isoform m

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A8V8TQS5
    Related
    ENSP00000514695.2, ENST00000699930.2

  18. NM_001406870.1 → NP_001393799.1  mismatch repair endonuclease PMS2 isoform n

    Status: REVIEWED

    Source sequence(s)
    AC005995

  19. NM_001406871.1 → NP_001393800.1  mismatch repair endonuclease PMS2 isoform o

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A8V8TQI1
    Related
    ENSP00000514576.1, ENST00000699768.1

  20. NM_001406872.1 → NP_001393801.1  mismatch repair endonuclease PMS2 isoform p

    Status: REVIEWED

    Source sequence(s)
    AC005995

  21. NM_001406873.1 → NP_001393802.1  mismatch repair endonuclease PMS2 isoform r

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A8V8TNY8
    Related
    ENSP00000514563.1, ENST00000699754.1

  22. NM_001406874.1 → NP_001393803.1  mismatch repair endonuclease PMS2 isoform q

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A8V8TPE1
    Related
    ENSP00000514628.1, ENST00000699827.1

  23. NM_001406875.1 → NP_001393804.1  mismatch repair endonuclease PMS2 isoform s

    Status: REVIEWED

    Source sequence(s)
    AC005995

  24. NM_001406876.1 → NP_001393805.1  mismatch repair endonuclease PMS2 isoform t

    Status: REVIEWED

    Source sequence(s)
    AC005995

  25. NM_001406877.1 → NP_001393806.1  mismatch repair endonuclease PMS2 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC005995

  26. NM_001406878.1 → NP_001393807.1  mismatch repair endonuclease PMS2 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC005995

  27. NM_001406879.1 → NP_001393808.1  mismatch repair endonuclease PMS2 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC005995

  28. NM_001406880.1 → NP_001393809.1  mismatch repair endonuclease PMS2 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC005995

  29. NM_001406881.1 → NP_001393810.1  mismatch repair endonuclease PMS2 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC005995
    Related
    ENST00000699813.1

  30. NM_001406882.1 → NP_001393811.1  mismatch repair endonuclease PMS2 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC005995

  31. NM_001406883.1 → NP_001393812.1  mismatch repair endonuclease PMS2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC005995
    Consensus CDS
    CCDS83155.1
    UniProtKB/TrEMBL
    C9J167

  32. NM_001406884.1 → NP_001393813.1  mismatch repair endonuclease PMS2 isoform u

    Status: REVIEWED

    Source sequence(s)
    AC005995

  33. NM_001406885.1 → NP_001393814.1  mismatch repair endonuclease PMS2 isoform v

    Status: REVIEWED

    Source sequence(s)
    AC005995

  34. NM_001406886.1 → NP_001393815.1  mismatch repair endonuclease PMS2 isoform w

    Status: REVIEWED

    Source sequence(s)
    AC005995

  35. NM_001406887.1 → NP_001393816.1  mismatch repair endonuclease PMS2 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A8V8TQ92

  36. NM_001406888.1 → NP_001393817.1  mismatch repair endonuclease PMS2 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A8V8TQ92

  37. NM_001406889.1 → NP_001393818.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A2R8Y6S3
    Related
    ENSP00000514569.1, ENST00000699761.1

  38. NM_001406890.1 → NP_001393819.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A2R8Y6S3

  39. NM_001406891.1 → NP_001393820.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A2R8Y6S3

  40. NM_001406892.1 → NP_001393821.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A2R8Y6S3

  41. NM_001406893.1 → NP_001393822.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A2R8Y6S3

  42. NM_001406894.1 → NP_001393823.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A2R8Y6S3

  43. NM_001406895.1 → NP_001393824.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A2R8Y6S3
    Related
    ENSP00000514624.1, ENST00000699823.1

  44. NM_001406896.1 → NP_001393825.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A2R8Y6S3

  45. NM_001406897.1 → NP_001393826.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A2R8Y6S3

  46. NM_001406898.1 → NP_001393827.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A2R8Y6S3

  47. NM_001406899.1 → NP_001393828.1  mismatch repair endonuclease PMS2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A2R8Y6S3

  48. NM_001406900.1 → NP_001393829.1  mismatch repair endonuclease PMS2 isoform y

    Status: REVIEWED

    Source sequence(s)
    AC005995

  49. NM_001406901.1 → NP_001393830.1  mismatch repair endonuclease PMS2 isoform z

    Status: REVIEWED

    Source sequence(s)
    AC005995

  50. NM_001406902.1 → NP_001393831.1  mismatch repair endonuclease PMS2 isoform z

    Status: REVIEWED

    Source sequence(s)
    AC005995

  51. NM_001406903.1 → NP_001393832.1  mismatch repair endonuclease PMS2 isoform aa

    Status: REVIEWED

    Source sequence(s)
    AC005995

  52. NM_001406904.1 → NP_001393833.1  mismatch repair endonuclease PMS2 isoform bb

    Status: REVIEWED

    Source sequence(s)
    AC005995

  53. NM_001406905.1 → NP_001393834.1  mismatch repair endonuclease PMS2 isoform bb

    Status: REVIEWED

    Source sequence(s)
    AC005995

  54. NM_001406906.1 → NP_001393835.1  mismatch repair endonuclease PMS2 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC005995
    Consensus CDS
    CCDS94049.1
    UniProtKB/TrEMBL
    A0A8V8TP61
    Related
    ENSP00000514626.1, ENST00000699825.1

  55. NM_001406907.1 → NP_001393836.1  mismatch repair endonuclease PMS2 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A8V8TP61

  56. NM_001406908.1 → NP_001393837.1  mismatch repair endonuclease PMS2 isoform ff

    Status: REVIEWED

    Source sequence(s)
    AC005995

  57. NM_001406909.1 → NP_001393838.1  mismatch repair endonuclease PMS2 isoform h

    Status: REVIEWED

    Source sequence(s)
    AC005995
    UniProtKB/TrEMBL
    A0A8V8TP84

  58. NM_001406910.1 → NP_001393839.1  mismatch repair endonuclease PMS2 isoform cc

    Status: REVIEWED

    Source sequence(s)
    AC005995

  59. NM_001406911.1 → NP_001393840.1  mismatch repair endonuclease PMS2 isoform dd

    Status: REVIEWED

    Source sequence(s)
    AC005995

  60. NM_001406912.1 → NP_001393841.1  mismatch repair endonuclease PMS2 isoform ee

    Status: REVIEWED

    Source sequence(s)
    AC005995
    Related
    ENSP00000371758.4, ENST00000382321.5

RNA

  1. NR_136154.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
    Related
    ENST00000699767.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    5970925..6009106 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420483.1 → XP_047276439.1  mismatch repair endonuclease PMS2 isoform X2

  2. XM_047420482.1 → XP_047276438.1  mismatch repair endonuclease PMS2 isoform X1

  3. XM_047420484.1 → XP_047276440.1  mismatch repair endonuclease PMS2 isoform X3

  4. XM_047420486.1 → XP_047276442.1  mismatch repair endonuclease PMS2 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    6088690..6126871 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358437.1 → XP_054214412.1  mismatch repair endonuclease PMS2 isoform X8

  2. XM_054358439.1 → XP_054214414.1  mismatch repair endonuclease PMS2 isoform X10

  3. XM_054358436.1 → XP_054214411.1  mismatch repair endonuclease PMS2 isoform X8

  4. XM_054358440.1 → XP_054214415.1  mismatch repair endonuclease PMS2 isoform X11

  5. XM_054358433.1 → XP_054214408.1  mismatch repair endonuclease PMS2 isoform X6

  6. XM_054358432.1 → XP_054214407.1  mismatch repair endonuclease PMS2 isoform X1

  7. XM_054358435.1 → XP_054214410.1  mismatch repair endonuclease PMS2 isoform X3

  8. XM_054358434.1 → XP_054214409.1  mismatch repair endonuclease PMS2 isoform X7

  9. XM_054358431.1 → XP_054214406.1  mismatch repair endonuclease PMS2 isoform X5

  10. XM_054358441.1 → XP_054214416.1  mismatch repair endonuclease PMS2 isoform X12

  11. XM_054358438.1 → XP_054214413.1  mismatch repair endonuclease PMS2 isoform X9

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P54278.2 GenPept UniProtKB/Swiss-Prot:P54278

Gene LinkOut

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

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous