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PMS2 (PMS2 postmeiotic segregation increased 2 (S. cerevisiae))

Identity

Other namesHNPCC4
PMS2CL
PMSL2
HGNC (Hugo) PMS2
LocusID (NCBI) 5395
Atlas_Id 328
Location 7p22.1
Location_base_pair Starts at 6012870 and ends at 6048737 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PMS2   9122
Cards
Entrez_Gene (NCBI)PMS2  5395  PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
GeneCards (Weizmann)PMS2
Ensembl hg19 (Hinxton)ENSG00000122512 [Gene_View]  chr7:6012870-6048737 [Contig_View]  PMS2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000122512 [Gene_View]  chr7:6012870-6048737 [Contig_View]  PMS2 [Vega]
ICGC DataPortalENSG00000122512
TCGA cBioPortalPMS2
AceView (NCBI)PMS2
Genatlas (Paris)PMS2
WikiGenes5395
SOURCE (Princeton)PMS2
Genomic and cartography
GoldenPath hg19 (UCSC)PMS2  -     chr7:6012870-6048737 -  7p22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PMS2  -     7p22.1   [Description]    (hg38-Dec_2013)
EnsemblPMS2 - 7p22.1 [CytoView hg19]  PMS2 - 7p22.1 [CytoView hg38]
Mapping of homologs : NCBIPMS2 [Mapview hg19]  PMS2 [Mapview hg38]
OMIM276300   600259   614337   
Gene and transcription
Genbank (Entrez)AB103082 AB103083 AB103085 AB103086 AI433648
RefSeq transcript (Entrez)NM_000535
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_008466 NT_007819 NW_004929329
Consensus coding sequences : CCDS (NCBI)PMS2
Cluster EST : UnigeneHs.632637 [ NCBI ]
CGAP (NCI)Hs.632637
Alternative Splicing : Fast-db (Paris)GSHG0027991
Alternative Splicing GalleryENSG00000122512
Gene ExpressionPMS2 [ NCBI-GEO ]     PMS2 [ SEEK ]   PMS2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54278 (Uniprot)
NextProtP54278  [Medical]  [Publications]
With graphics : InterProP54278
Splice isoforms : SwissVarP54278 (Swissvar)
Catalytic activity : Enzyme3.1.-.- [ Enzyme-Expasy ]   3.1.-.-3.1.-.- [ IntEnz-EBI ]   3.1.-.- [ BRENDA ]   3.1.-.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)DNA_MISMATCH_REPAIR_1 (PS00058)   
Domains : Interpro (EBI)DNA_mismatch_repair_C    DNA_mismatch_repair_CS    DNA_mismatch_repair_fam    HATPase_C    MutL_C    Pms1/Pms2/PMS2L    Ribosomal_S5_D2-typ_fold    Ribosomal_S5_D2-typ_fold_subgr   
Related proteins : CluSTrP54278
Domain families : Pfam (Sanger)DNA_mis_repair (PF01119)    MutL_C (PF08676)   
Domain families : Pfam (NCBI)pfam01119    pfam08676   
Domain families : Smart (EMBL)HATPase_c (SM00387)  MutL_C (SM00853)  
DMDM Disease mutations5395
Blocks (Seattle)P54278
PDB (SRS)1EA6    1H7S    1H7U   
PDB (PDBSum)1EA6    1H7S    1H7U   
PDB (IMB)1EA6    1H7S    1H7U   
PDB (RSDB)1EA6    1H7S    1H7U   
Human Protein AtlasENSG00000122512
Peptide AtlasP54278
HPRD02598
IPIIPI00746337   IPI00873034   IPI00418329   IPI00874088   IPI01012773   IPI00604708   IPI00743812   
Protein Interaction databases
DIP (DOE-UCLA)P54278
IntAct (EBI)P54278
FunCoupENSG00000122512
BioGRIDPMS2
IntegromeDBPMS2
STRING (EMBL)PMS2
Ontologies - Pathways
QuickGOP54278
Ontology : AmiGODNA binding  single-stranded DNA binding  endonuclease activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA repair  mismatch repair  mismatch repair  microtubule cytoskeleton  somatic hypermutation of immunoglobulin genes  somatic recombination of immunoglobulin gene segments  ATPase activity  single base insertion or deletion binding  MutLalpha complex  MutSalpha complex binding  response to drug  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIDNA binding  single-stranded DNA binding  endonuclease activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA repair  mismatch repair  mismatch repair  microtubule cytoskeleton  somatic hypermutation of immunoglobulin genes  somatic recombination of immunoglobulin gene segments  ATPase activity  single base insertion or deletion binding  MutLalpha complex  MutSalpha complex binding  response to drug  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  
Pathways : KEGGMismatch repair    Fanconi anemia pathway   
Protein Interaction DatabasePMS2
DoCM (Curated mutations)PMS2
Wikipedia pathwaysPMS2
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerPMS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMS2
dbVarPMS2
ClinVarPMS2
1000_GenomesPMS2 
Exome Variant ServerPMS2
SNP (GeneSNP Utah)PMS2
SNP : HGBasePMS2
Genetic variants : HAPMAPPMS2
Genomic Variants (DGV)PMS2 [DGVbeta]
Mutations
ICGC Data PortalPMS2 
TCGA Data PortalPMS2 
Tumor PortalPMS2
Cancer Gene: CensusPMS2 
Somatic Mutations in Cancer : COSMICPMS2 
LOVD (Leiden Open Variation Database)genes/PMS2
LOVD (Leiden Open Variation Database)genes/PMS2
LOVD (Leiden Open Variation Database)genes/PMS2
LOVD (Leiden Open Variation Database)genes/PMS2
LOVD (Leiden Open Variation Database)genes/PMS2
LOVD (Leiden Open Variation Database)genes/PMS2
LOVD (Leiden Open Variation Database)genes/PMS2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:6012870-6048737
CONAN: Copy Number AnalysisPMS2 
Mutations and Diseases : HGMDPMS2
OMIM276300    600259    614337   
MedgenPMS2
NextProtP54278 [Medical]
GENETestsPMS2
Disease Genetic AssociationPMS2
Huge Navigator PMS2 [HugePedia]  PMS2 [HugeCancerGEM]
snp3D : Map Gene to Disease5395
DGIdb (Drug Gene Interaction db)PMS2
BioCentury BCIQPMS2
General knowledge
Homologs : HomoloGenePMS2
Homology/Alignments : Family Browser (UCSC)PMS2
Phylogenetic Trees/Animal Genes : TreeFamPMS2
Chemical/Protein Interactions : CTD5395
Chemical/Pharm GKB GenePA33448
Clinical trialPMS2
Cancer Resource (Charite)ENSG00000122512
Other databases
Probes
Litterature
PubMed148 Pubmed reference(s) in Entrez
CoreMinePMS2
GoPubMedPMS2
iHOPPMS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 29 19:07:53 CEST 2015

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