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

    Gene ID: 5395, updated on 10-Dec-2024

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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

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    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

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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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.

    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, A0A8V8TP72
      Related
      ENSP00000514637.1, ENST00000699839.1

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A8V8TP72

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A8V8TP72, 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
      UniProtKB/TrEMBL
      A0A8V8TP72

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A8V8TP72, 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
      UniProtKB/TrEMBL
      A0A8V8TP72

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A8V8TNY8, A0A8V8TP72
      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
      A0A8V8TP72, 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
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8
      Related
      ENST00000699813.1

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

    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, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A8V8TP72

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A8V8TP72

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A8V8TP72

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A8V8TQ92, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A8V8TQ92, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A2R8Y6S3, Q5FBW8
      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, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A2R8Y6S3, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A2R8Y6S3, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A2R8Y6S3, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A2R8Y6S3, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A2R8Y6S3, Q5FBW8
      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, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A2R8Y6S3, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A2R8Y6S3, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A2R8Y6S3, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

    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, Q5FBW8
      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, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      A0A8V8TP84, Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

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

      Status: REVIEWED

      Source sequence(s)
      AC005995
      UniProtKB/TrEMBL
      Q5FBW8

    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

      UniProtKB/TrEMBL
      A0A8V8TP72

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

      UniProtKB/TrEMBL
      A0A8V8TP72

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

      UniProtKB/TrEMBL
      A0A8V8TP72

    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

      UniProtKB/TrEMBL
      Q5FBW8

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

      UniProtKB/TrEMBL
      Q5FBW8

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

      UniProtKB/TrEMBL
      Q5FBW8

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

      UniProtKB/TrEMBL
      Q5FBW8

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

      UniProtKB/TrEMBL
      A0A8V8TP72

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

      UniProtKB/TrEMBL
      A0A8V8TP72

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

      UniProtKB/TrEMBL
      A0A8V8TP72

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

      UniProtKB/TrEMBL
      A0A8V8TP72

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

      UniProtKB/TrEMBL
      A0A8V8TP72

    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

      UniProtKB/TrEMBL
      A0A8V8TP89
    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.

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