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

Identity

Other namesHNPCC4
PMS2CL
PMSL2
HGNC (Hugo) PMS2
Location 7p22.1
Location_base_pair Starts at 5979396 and ends at 6015263 bp from pter ( according to hg18-March_2006)
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
Entrez_Gene (NCBI)PMS2  5395  PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Cards
GeneCards (Weizmann)PMS2
Ensembl (Hinxton)ENSG00000122512 [Gene_View]  PMS2 [Vega]
AceView (NCBI)PMS2
Genatlas (Paris)PMS2
euGene (Indiana)5395
SOURCE (Stanford)NM_000535
Gene Expression (Array Express) ENSG00000122512
Genomic and cartography
GoldenPath (UCSC)PMS2  -  7p22.1   chr7:5979396-6015263 -  7p22.1   [Description]    (hg18-March_2006)
EnsemblPMS2 - 7p22.1 [CytoView]
Mapping of homologs : NCBIPMS2 [Mapview]
OMIM276300   600259   
Gene and transcription
Gene : Genbank (Entrez)AB103082 AB103083 AB103085 AB103086 AI433648
Reference sequence (RefSeq transcript) :SRSNM_000535
Reference transcript : EntrezNM_000535
RefSeq genomic : SRSAC_000068 AC_000139 NC_000007 NG_008466 NT_007819 NT_079592 NW_001839002 NW_927172
RefSeq genomic : EntrezAC_000068 AC_000139 NC_000007 NG_008466 NT_007819 NT_079592 NW_001839002 NW_927172
Consensus coding sequences : CCDS NCBIPMS2
Cluster EST : UnigeneHs.632637 [ SRS ] Hs.632637 [ NCBI ]
Alternative Splicing : Fast-db (Paris)1623
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP54278 (SRS) P54278 (Expasy) P54278 (Uniprot)
With graphics : InterProP54278
Splice isoforms : VarSplice FASTAP54278(VarSplice FASTA)
Domaine pattern : Prosite (SRS)DNA_MISMATCH_REPAIR_1 (PS00058)   
Domain pattern : Prosite (Expaxy)DNA_MISMATCH_REPAIR_1 (PS00058)   
Domains : Interpro (SRS)ATPase-like_ATP-bd    DNA_mismatch_repair    DNA_mismatch_repair_C    DNA_mismatch_repair_CS    DNA_mismatch_repair_N    MutL_C    PMS2    Ribosomal_S5_D2-typ_fold    Ribosomal_S5_D2-typ_fold_subgr   
Domains : Interpro (EBI)ATPase-like_ATP-bd    DNA_mismatch_repair    DNA_mismatch_repair_C    DNA_mismatch_repair_CS    DNA_mismatch_repair_N    MutL_C    PMS2    Ribosomal_S5_D2-typ_fold    Ribosomal_S5_D2-typ_fold_subgr   
Related proteins : CluSTrP54278
Domain families : Pfam SRSDNA_mis_repair (PF01119)    HATPase_c (PF02518)    MutL_C (PF08676)   
Domain families : Pfam SangerDNA_mis_repair (PF01119)    HATPase_c (PF02518)    MutL_C (PF08676)   
Domain families : Pfam NCBIpfam01119    pfam02518    pfam08676   
Domain families : Smart EMBLHATPase_c (SM00387)  MutL_C (SM00853)  
Blocks (Seattle)P54278
Crystal structure of protein : PDB SRS1EA6    1H7S    1H7U   
Crystal structure of protein : PDBSum1EA6    1H7S    1H7U   
Crystal structure of protein : IMB1EA6    1H7S    1H7U   
Crystal structure of protein : PDB RSDB1EA6    1H7S    1H7U   
HPRD02598
Protein Interaction databases
DIP (DOE-UCLA)P54278
IntAct (EBI)P54278
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIPMS2
SNP : GeneSNP UtahPMS2
SNP : HGBasePMS2
Genetic variants : HAPMAPPMS2
Cancer Gene: CensusPMS2 
Somatic Mutations in Cancer : COSMICPMS2 
Mutations and Diseases : HGMDPMS2
Hereditary diseases : OMIM276300    600259   
Hereditary diseases : GENETests276300    600259   
Diseases : Genetic AssociationPMS2
General knowledge
Homologs : HomoloGenePMS2
Homology/Alignments : Family Browser UCSCPMS2
Phylogenetic Trees/Animal Genes : TreeFamPMS2
Catalytic activity : Enzyme3.1.-.- [ Enzyme-Expasy ]   3.1.-.- [ Enzyme-SRS ]   3.1.-.- [ IntEnz-EBI ]   3.1.-.- [ BRENDA ]   3.1.-.- [ KEGG ]   
Chemical/Protein Interactions : CTD5395
Keywords Ontology : AmiGODNA binding  single-stranded DNA binding  endonuclease activity  protein binding  ATP binding  nucleus  mismatch repair  response to DNA damage stimulus  somatic hypermutation of immunoglobulin genes  somatic recombination of immunoglobulin gene segments  hydrolase activity  mismatched DNA binding  single base insertion or deletion binding  MutLalpha complex  MutSalpha complex binding  
Keywords Ontology : EGO-EBIDNA binding  single-stranded DNA binding  endonuclease activity  protein binding  ATP binding  nucleus  mismatch repair  response to DNA damage stimulus  somatic hypermutation of immunoglobulin genes  somatic recombination of immunoglobulin gene segments  hydrolase activity  mismatched DNA binding  single base insertion or deletion binding  MutLalpha complex  MutSalpha complex binding  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesPMS2 Related clones (RZPD - Berlin)
Literature
PubMed93 Pubmed reference(s) in Entrez
PubGenePMS2
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
Updated03-2009Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 27 10:44:55 CET 2010
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