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PMS2 (PMS1 homolog 2, mismatch repair system component)

Identity

Alias (NCBI)HNPCC4
MLH4
MMRCS4
PMS2CL
PMSL2
HGNC (Hugo) PMS2
HGNC Alias symbH_DJ0042M02.9
HNPCC4
MLH4
HGNC Previous namePMSL2
HGNC Previous namepostmeiotic segregation increased (S. cerevisiae) 2
 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
 PMS1 homolog 2, mismatch repair protein
LocusID (NCBI) 5395
Atlas_Id 328
Location 7p22.1  [Link to chromosome band 7p22]
Location_base_pair Starts at 5970926 and ends at 6009049 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PMS2 (7p22.1)::AIMP2 (7p22.1)PMS2 7p22.1::AIMP2 7p22.1

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

 



Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 4 ]
  Familial glioma Familial nervous system tumour syndromes Lynch Syndrome Turcot syndrome


External links

 

Nomenclature
HGNC (Hugo)PMS2   9122
LRG (Locus Reference Genomic)LRG_161
Cards
Entrez_Gene (NCBI)PMS2    PMS1 homolog 2, mismatch repair system component
AliasesHNPCC4; MLH4; MMRCS4; PMS2CL; 
PMSL2
GeneCards (Weizmann)PMS2
Ensembl hg19 (Hinxton)ENSG00000122512 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122512 [Gene_View]  ENSG00000122512 [Sequence]  chr7:5970926-6009049 [Contig_View]  PMS2 [Vega]
ICGC DataPortalENSG00000122512
TCGA cBioPortalPMS2
AceView (NCBI)PMS2
Genatlas (Paris)PMS2
SOURCE (Princeton)PMS2
Genetics Home Reference (NIH)PMS2
Genomic and cartography
GoldenPath hg38 (UCSC)PMS2  -     chr7:5970926-6009049 -  7p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PMS2  -     7p22.1   [Description]    (hg19-Feb_2009)
GoldenPathPMS2 - 7p22.1 [CytoView hg19]  PMS2 - 7p22.1 [CytoView hg38]
ImmunoBaseENSG00000122512
Genome Data Viewer NCBIPMS2 [Mapview hg19]  
OMIM600259   614337   619101   
Gene and transcription
Genbank (Entrez)AB103082 AB103083 AB103085 AB103086 AB103087
RefSeq transcript (Entrez)NM_000535 NM_001322003 NM_001322004 NM_001322005 NM_001322006 NM_001322007 NM_001322008 NM_001322009 NM_001322010 NM_001322011 NM_001322012 NM_001322013 NM_001322014 NM_001322015
Consensus coding sequences : CCDS (NCBI)PMS2
Gene ExpressionPMS2 [ NCBI-GEO ]   PMS2 [ EBI - ARRAY_EXPRESS ]   PMS2 [ SEEK ]   PMS2 [ MEM ]
Gene Expression Viewer (FireBrowse)PMS2 [ Firebrowse - Broad ]
GenevisibleExpression of PMS2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5395
GTEX Portal (Tissue expression)PMS2
Human Protein AtlasENSG00000122512-PMS2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54278   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54278  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54278
Catalytic activity : Enzyme3.1.-.- [ Enzyme-Expasy ]   3.1.-.-3.1.-.- [ IntEnz-EBI ]   3.1.-.- [ BRENDA ]   3.1.-.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP54278
Domaine pattern : Prosite (Expaxy)DNA_MISMATCH_REPAIR_1 (PS00058)   
Domains : Interpro (EBI)DNA_mismatch_repair_CS    DNA_mismatch_repair_N    DNA_mismatch_S5_2-like    HATPase_C_sf    MutL/Mlh/Pms    MutL_C    MutL_C_dimsub    MutL_C_regsub    MutL_C_sf    Ribosomal_S5_D2-typ_fold    Ribosomal_S5_D2-typ_fold_subgr   
Domain families : Pfam (Sanger)DNA_mis_repair (PF01119)    MutL_C (PF08676)   
Domain families : Pfam (NCBI)pfam01119    pfam08676   
Domain families : Smart (EMBL)DNA_mis_repair (SM01340)  MutL_C (SM00853)  
Conserved Domain (NCBI)PMS2
PDB (RSDB)1EA6    1H7S    1H7U    5U5R    6MFQ   
PDB Europe1EA6    1H7S    1H7U    5U5R    6MFQ   
PDB (PDBSum)1EA6    1H7S    1H7U    5U5R    6MFQ   
PDB (IMB)1EA6    1H7S    1H7U    5U5R    6MFQ   
Structural Biology KnowledgeBase1EA6    1H7S    1H7U    5U5R    6MFQ   
SCOP (Structural Classification of Proteins)1EA6    1H7S    1H7U    5U5R    6MFQ   
CATH (Classification of proteins structures)1EA6    1H7S    1H7U    5U5R    6MFQ   
SuperfamilyP54278
AlphaFold pdb e-kbP54278   
Human Protein Atlas [tissue]ENSG00000122512-PMS2 [tissue]
HPRD02598
Protein Interaction databases
DIP (DOE-UCLA)P54278
IntAct (EBI)P54278
BioGRIDPMS2
STRING (EMBL)PMS2
ZODIACPMS2
Ontologies - Pathways
QuickGOP54278
Ontology : AmiGODNA binding  single-stranded DNA binding  endonuclease activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytosol  plasma membrane  mismatch repair  mismatch repair  mismatch repair  mismatch repair  response to xenobiotic stimulus  somatic hypermutation of immunoglobulin genes  ATP hydrolysis activity  single base insertion or deletion binding  mismatch repair complex  MutLalpha complex  MutSalpha complex binding  cytoplasmic ribonucleoprotein granule  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIDNA binding  single-stranded DNA binding  endonuclease activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytosol  plasma membrane  mismatch repair  mismatch repair  mismatch repair  mismatch repair  response to xenobiotic stimulus  somatic hypermutation of immunoglobulin genes  ATP hydrolysis activity  single base insertion or deletion binding  mismatch repair complex  MutLalpha complex  MutSalpha complex binding  cytoplasmic ribonucleoprotein granule  nucleic acid phosphodiester bond hydrolysis  
Pathways : KEGGKEGG_MISMATCH_REPAIR   
NDEx NetworkPMS2
Atlas of Cancer Signalling NetworkPMS2
Wikipedia pathwaysPMS2
Orthology - Evolution
OrthoDB5395
GeneTree (enSembl)ENSG00000122512
Phylogenetic Trees/Animal Genes : TreeFamPMS2
Homologs : HomoloGenePMS2
Homology/Alignments : Family Browser (UCSC)PMS2
Gene fusions - Rearrangements
Fusion : MitelmanPMS2::AIMP2 [7p22.1/7p22.1]  
Fusion : QuiverPMS2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMS2
dbVarPMS2
ClinVarPMS2
MonarchPMS2
1000_GenomesPMS2 
Exome Variant ServerPMS2
GNOMAD BrowserENSG00000122512
Varsome BrowserPMS2
ACMGPMS2 variants
VarityP54278
Genomic Variants (DGV)PMS2 [DGVbeta]
DECIPHERPMS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPMS2 
Mutations
ICGC Data PortalPMS2 
TCGA Data PortalPMS2 
Broad Tumor PortalPMS2
OASIS PortalPMS2 [ Somatic mutations - Copy number]
Cancer Gene: CensusPMS2 
Somatic Mutations in Cancer : COSMICPMS2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPMS2
Mutations and Diseases : HGMDPMS2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPMS2
DgiDB (Drug Gene Interaction Database)PMS2
DoCM (Curated mutations)PMS2
CIViC (Clinical Interpretations of Variants in Cancer)PMS2
Cancer3DPMS2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600259    614337    619101   
Orphanet19731    3245   
DisGeNETPMS2
MedgenPMS2
Genetic Testing Registry PMS2
NextProtP54278 [Medical]
GENETestsPMS2
Target ValidationPMS2
Huge Navigator PMS2 [HugePedia]
ClinGenPMS2 (curated)
Clinical trials, drugs, therapy
MyCancerGenomePMS2
Protein Interactions : CTDPMS2
Pharm GKB GenePA33448
PharosP54278
Clinical trialPMS2
Miscellaneous
canSAR (ICR)PMS2
HarmonizomePMS2
ARCHS4PMS2
DataMed IndexPMS2
Probes
Litterature
PubMed225 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPMS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:52:51 CET 2022

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