Format

Send to:

Choose Destination

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

Gene ID: 5395, updated on 14-Jun-2018
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]
Expression
Ubiquitous expression in brain (RPKM 6.7), thyroid (RPKM 5.5) and 25 other tissues See more
Orthologs
See PMS2 in Genome Data Viewer
Location:
7p22.1
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 small nucleolar RNA, H/ACA box 80D 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
PubMed 
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 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Component Evidence Code Pubs
MutLalpha complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
mismatch repair complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
    Consensus CDS
    CCDS87474.1
    UniProtKB/Swiss-Prot
    P54278
    UniProtKB/TrEMBL
    B4DGM0, Q7Z3Q2
    Related
    ENSP00000493814.1, ENST00000642456.1
    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
    Consensus CDS
    CCDS87474.1
    UniProtKB/Swiss-Prot
    P54278
    UniProtKB/TrEMBL
    B4DGM0, Q7Z3Q2
    Related
    ENSP00000495524.1, ENST00000642292.1
    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
    Consensus CDS
    CCDS87474.1
    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
    Related
    ENSP00000496392.1, ENST00000644110.1
    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 (1) summary
    cl28386
    Location:2669
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024446800.1XP_024302568.1  mismatch repair endonuclease PMS2 isoform X1

    Conserved Domains (1) summary
    cl28386
    Location:2669
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
  2. XM_017012342.2XP_016867831.1  mismatch repair endonuclease PMS2 isoform X2

    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 ...
  3. XM_006715744.4XP_006715807.1  mismatch repair endonuclease PMS2 isoform X2

    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 ...
Support Center