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PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) [ Homo sapiens (human) ]

Gene ID: 5395, updated on 19-Jul-2014
Official Symbol
PMS2provided by HGNC
Official Full Name
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)provided by HGNC
Primary source
HGNC:9122
See related
Ensembl:ENSG00000122512; HPRD:02598; 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
PMSL2; HNPCC4; PMS2CL
Summary
This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2008]
See PMS2 in Epigenomics, MapViewer
Location:
7p22.2
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (5973239..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 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) Neighboring gene radial spoke head 10 homolog B (Chlamydomonas) 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

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
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  • BRCA1-associated genome surveillance complex (BASC), conserved biosystem (from KEGG)
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  • DNA Repair, organism-specific biosystem (from REACTOME)
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    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
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  • Fanconi anemia pathway, conserved biosystem (from KEGG)
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  • 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)
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  • 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)...
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 IEA
Inferred from Electronic Annotation
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
ATP catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
mismatch repair IDA
Inferred from Direct Assay
more info
PubMed 
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
 
somatic recombination of immunoglobulin gene segments IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MutLalpha complex IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
mismatch repair endonuclease PMS2
Names
mismatch repair endonuclease PMS2
H_DJ0042M02.9
PMS1 protein homolog 2
DNA mismatch repair protein PMS2

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 

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

mRNA and Protein(s)

  1. NM_000535.5NP_000526.1  mismatch repair endonuclease PMS2 isoform a

    See proteins identical to NP_000526.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform a.
    Source sequence(s)
    AI433648, AK312390, BC093921, BM669686, BP251389, DA774159
    Consensus CDS
    CCDS5343.1
    UniProtKB/Swiss-Prot
    P54278
    Related
    ENSP00000265849, OTTHUMP00000115837, ENST00000265849, OTTHUMT00000207353
    Conserved Domains (4) summary
    smart00853
    Location:678821
    Blast Score: 346
    MutL_C; MutL C terminal dimerisation domain
    TIGR00585
    Location:13344
    Blast Score: 1092
    mutl; DNA mismatch repair protein MutL
    cd00075
    Location:35159
    Blast Score: 123
    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
    cd03484
    Location:222364
    Blast Score: 560
    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_003085.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate acceptor splice site at exon 2, resulting in a frame-shift and premature translation termination, rendering the transcript susceptible to nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI433648, AK312390, BC093921, BM669686, BP251389, CR981250, DA774159

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    5973239..6009106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715743.1XP_006715806.1  

    Conserved Domains (4) summary
    smart00853
    Location:626769
    Blast Score: 347
    MutL_C; MutL C terminal dimerisation domain
    TIGR00585
    Location:13332
    Blast Score: 1028
    mutl; DNA mismatch repair protein MutL
    cd00075
    Location:35159
    Blast Score: 123
    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
    cd03484
    Location:222332
    Blast Score: 411
    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 ...
  2. XM_006715742.1XP_006715805.1  

    Conserved Domains (4) summary
    smart00853
    Location:676819
    Blast Score: 347
    MutL_C; MutL C terminal dimerisation domain
    TIGR00585
    Location:11342
    Blast Score: 1092
    mutl; DNA mismatch repair protein MutL
    cd00075
    Location:33157
    Blast Score: 123
    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
    cd03484
    Location:220362
    Blast Score: 559
    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. XM_006715744.1XP_006715807.1  

    Conserved Domains (2) summary
    smart00853
    Location:367510
    Blast Score: 346
    MutL_C; MutL C terminal dimerisation domain
    cl02783
    Location:153
    Blast Score: 234
    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 HuRef

Genomic

  1. AC_000139.1 

    Range
    5894376..5920472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    6012471..6048456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)