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

    Gene ID: 5395, updated on 11-Jun-2017
    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; Vega:OTTHUMG00000023135
    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; PMSL2; HNPCC4; 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]
    Orthologs
    Location:
    7p22.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (5970925..6009106, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6012870..6048737, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CCZ1 homolog, vacuolar protein trafficking and biogenesis associated Neighboring gene uncharacterized LOC107986694 Neighboring gene radial spoke head 10 homolog B 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Hereditary nonpolyposis colorectal cancer type 4
    MedGen: C1838333 OMIM: 614337 GeneReviews: Not available
    Compare labs
    Turcot syndrome
    MedGen: C0265325 OMIM: 276300 GeneReviews: Lynch Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2015-11-15)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2015-11-15)

    ClinGen Genome Curation PagePubMed
    • BRCA1-associated genome surveillance complex (BASC), organism-specific biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), organism-specific biosystemStructural complex; Genetic information processing; Repair system
    • BRCA1-associated genome surveillance complex (BASC), conserved biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), conserved biosystemStructural complex; Genetic information processing; Repair system
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Mismatch Repair, organism-specific biosystem (from REACTOME)
      Mismatch Repair, organism-specific biosystemThe mismatch repair (MMR) system corrects single base mismatches and small insertion and deletion loops (IDLs) of unpaired bases. MMR is primarily associated with DNA replication and is highly conser...
    • Mismatch repair, organism-specific biosystem (from KEGG)
      Mismatch repair, organism-specific biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Mismatch repair, conserved biosystem (from KEGG)
      Mismatch repair, conserved biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta), organism-specific biosystem (from REACTOME)
      Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta), organism-specific biosystemMSH2:MSH3 (MutSbeta) binds unpaired loops of 2 or more nucleotides (Palombo et al. 1996, Genschel et al. 1998). Human cells contain about 6-fold more MSH2:MSH6 than MSH2:MSH3 (MutSbeta) and an imbala...
    • Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), organism-specific biosystem (from REACTOME)
      Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), organism-specific biosystemMSH2:MSH6 (MutSalpha) binds single base mismatches and unpaired loops of 1-2 nucleotides (reviewed in Edelbrock et al. 2013). Human cells contain about 6-fold more MSH2:MSH6 than MSH2:MSH3 (MutSbeta)...
    • TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystemSeveral DNA repair genes contain p53 response elements and their transcription is positively regulated by TP53 (p53). TP53-mediated regulation probably ensures increased protein level of DNA repair g...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to MutSalpha complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endonuclease activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
    mismatch repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mismatch repair TAS
    Traceable Author Statement
    more info
     
    nucleic acid phosphodiester bond hydrolysis IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    somatic hypermutation of immunoglobulin genes IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    MutLalpha complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    P-body IDA
    Inferred from Direct Assay
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    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
    postmeiotic segregation increased 2 nirs variant 6

    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_000535.6NP_000526.2  mismatch repair endonuclease PMS2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform a.
      Source sequence(s)
      AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
      Consensus CDS
      CCDS5343.1
      UniProtKB/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, Q7Z3Q2
      Related
      ENSP00000265849.7, OTTHUMP00000115837, ENST00000265849.11, OTTHUMT00000207353
      Conserved Domains (4) summary
      smart00853
      Location:678821
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:222364
      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:13344
      mutl; DNA mismatch repair protein MutL
      cl00075
      Location:34149
      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_001322003.1NP_001308932.1  mismatch repair endonuclease PMS2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, CR981250, DA774159, DB548617
      UniProtKB/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, Q7Z3Q2
      Conserved Domains (2) summary
      smart00853
      Location:543686
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:87229
      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_001322004.1NP_001308933.1  mismatch repair endonuclease PMS2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
      UniProtKB/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, Q7Z3Q2
      Conserved Domains (2) summary
      smart00853
      Location:543686
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:87229
      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_001322005.1NP_001308934.1  mismatch repair endonuclease PMS2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
      UniProtKB/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, Q7Z3Q2
      Conserved Domains (2) summary
      smart00853
      Location:543686
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:87229
      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_001322006.1NP_001308935.1  mismatch repair endonuclease PMS2 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
      UniProtKB/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, Q7Z3Q2
      Conserved Domains (4) summary
      smart00853
      Location:626769
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:222332
      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:13332
      mutl; DNA mismatch repair protein MutL
      cl00075
      Location:34149
      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_001322007.1NP_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/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, C9J167, Q7Z3Q2
      Related
      ENSP00000392843.2, ENST00000441476.6
      Conserved Domains (2) summary
      smart00853
      Location:572715
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:116258
      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_001322008.1NP_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/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, C9J167, Q7Z3Q2
      Conserved Domains (2) summary
      smart00853
      Location:572715
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:116258
      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_001322009.1NP_001308938.1  mismatch repair endonuclease PMS2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617, T93906
      UniProtKB/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, Q7Z3Q2
      Conserved Domains (2) summary
      smart00853
      Location:543697
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:87229
      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_001322010.1NP_001308939.1  mismatch repair endonuclease PMS2 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
      UniProtKB/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, Q7Z3Q2
      Conserved Domains (3) summary
      smart00853
      Location:491634
      MutL_C; MutL C terminal dimerisation domain
      COG0323
      Location:2669
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
      cd03484
      Location:87197
      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 ...
    10. NM_001322011.1NP_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:367510
      MutL_C; MutL C terminal dimerisation domain
      cl02783
      Location:153
      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_001322012.1NP_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:367510
      MutL_C; MutL C terminal dimerisation domain
      cl02783
      Location:153
      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_001322013.1NP_001308942.1  mismatch repair endonuclease PMS2 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
      UniProtKB/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, Q7Z3Q2
      Conserved Domains (2) summary
      smart00853
      Location:487630
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:42173
      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_001322014.1NP_001308943.1  mismatch repair endonuclease PMS2 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617, T93906
      UniProtKB/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, Q7Z3Q2
      Conserved Domains (4) summary
      smart00853
      Location:678832
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:222364
      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:13344
      mutl; DNA mismatch repair protein MutL
      cl00075
      Location:34149
      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_001322015.1NP_001308944.1  mismatch repair endonuclease PMS2 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617
      UniProtKB/Swiss-Prot
      P54278
      UniProtKB/TrEMBL
      B4DGM0, Q7Z3Q2
      Conserved Domains (2) summary
      smart00853
      Location:575718
      MutL_C; MutL C terminal dimerisation domain
      cd03484
      Location:119261
      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 ...

    RNA

    1. NR_136154.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI433648, AK294661, AK312390, BC093921, BP251389, BX537558, DA774159, DB548617

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017012342.1XP_016867831.1  mismatch repair endonuclease PMS2 isoform X1

      Conserved Domains (2) summary
      smart00853
      Location:367510
      MutL_C; MutL C terminal dimerisation domain
      cl02783
      Location:153
      TopoII_MutL_Trans; MutL_Trans: transducer domain, having a ribosomal S5 domain 2-like fold, conserved in the C-terminal domain of type II DNA topoisomerases (Topo II) and DNA mismatch repair (MutL/MLH1/PMS2) proteins. This transducer domain is homologous to the second ...
    2. XM_006715744.3XP_006715807.1  mismatch repair endonuclease PMS2 isoform X1

      Conserved Domains (2) summary
      smart00853
      Location:367510
      MutL_C; MutL C terminal dimerisation domain
      cl02783
      Location:153
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      6774489..6793088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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