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PMS2P3 (PMS1 homolog 2, mismatch repair system component pseudogene 3)

Identity

Alias_namesPMS2L9
PMS2L3
postmeiotic segregation increased 2-like 3
postmeiotic segregation increased 2-like 3, pseudogene
postmeiotic segregation increased 2 pseudogene 3
Alias_symbol (synonym)PMS5
PMSR3
Other alias
HGNC (Hugo) PMS2P3
LocusID (NCBI) 5387
Atlas_Id 42947
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 75137069 and ends at 75157285 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PMS2P3 (7q11.23) / PRKRIP1 (7q22.1)PMS2P3 (7q11.23) / RPL38 (17q25.1)

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

 


External links

Nomenclature
HGNC (Hugo)PMS2P3   9128
Cards
Entrez_Gene (NCBI)PMS2P3  5387  PMS1 homolog 2, mismatch repair system component pseudogene 3
AliasesPMS2L3; PMS2L9; PMS5; PMSR3
GeneCards (Weizmann)PMS2P3
Ensembl hg19 (Hinxton)ENSG00000127957 [Gene_View]  chr7:75137069-75157285 [Contig_View]  PMS2P3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000127957 [Gene_View]  chr7:75137069-75157285 [Contig_View]  PMS2P3 [Vega]
ICGC DataPortalENSG00000127957
TCGA cBioPortalPMS2P3
AceView (NCBI)PMS2P3
Genatlas (Paris)PMS2P3
WikiGenes5387
SOURCE (Princeton)PMS2P3
Genetics Home Reference (NIH)PMS2P3
Genomic and cartography
GoldenPath hg19 (UCSC)PMS2P3  -     chr7:75137069-75157285 -  7q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PMS2P3  -     7q11.23   [Description]    (hg38-Dec_2013)
EnsemblPMS2P3 - 7q11.23 [CytoView hg19]  PMS2P3 - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIPMS2P3 [Mapview hg19]  PMS2P3 [Mapview hg38]
Gene and transcription
Genbank (Entrez)BC007683 BC014421 BC046153 BC087844 BC101598
RefSeq transcript (Entrez)NM_001003686 NM_005395
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)PMS2P3
Cluster EST : UnigeneHs.661055 [ NCBI ]
CGAP (NCI)Hs.661055
Alternative Splicing GalleryENSG00000127957
Gene ExpressionPMS2P3 [ NCBI-GEO ]   PMS2P3 [ EBI - ARRAY_EXPRESS ]   PMS2P3 [ SEEK ]   PMS2P3 [ MEM ]
Gene Expression Viewer (FireBrowse)PMS2P3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5387
GTEX Portal (Tissue expression)PMS2P3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13401   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13401  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13401
Splice isoforms : SwissVarQ13401
PhosPhoSitePlusQ13401
Domaine pattern : Prosite (Expaxy)KRAB (PS50805)   
Domains : Interpro (EBI)HATPase_C    KRAB   
Domain families : Pfam (Sanger)KRAB (PF01352)   
Domain families : Pfam (NCBI)pfam01352   
Domain families : Smart (EMBL)KRAB (SM00349)  
Conserved Domain (NCBI)PMS2P3
DMDM Disease mutations5387
Blocks (Seattle)PMS2P3
SuperfamilyQ13401
Human Protein AtlasENSG00000127957
Peptide AtlasQ13401
HPRD17866
IPIIPI00743216   IPI00022518   IPI00395560   IPI00003340   
Protein Interaction databases
DIP (DOE-UCLA)Q13401
IntAct (EBI)Q13401
FunCoupENSG00000127957
BioGRIDPMS2P3
STRING (EMBL)PMS2P3
ZODIACPMS2P3
Ontologies - Pathways
QuickGOQ13401
Ontology : AmiGOsynaptonemal complex  molecular_function  single-stranded DNA binding  cellular_component  chiasma  mismatch repair  regulation of transcription, DNA-templated  biological_process  ATPase activity  mismatch repair complex  
Ontology : EGO-EBIsynaptonemal complex  molecular_function  single-stranded DNA binding  cellular_component  chiasma  mismatch repair  regulation of transcription, DNA-templated  biological_process  ATPase activity  mismatch repair complex  
NDEx NetworkPMS2P3
Atlas of Cancer Signalling NetworkPMS2P3
Wikipedia pathwaysPMS2P3
Orthology - Evolution
OrthoDB5387
GeneTree (enSembl)ENSG00000127957
Phylogenetic Trees/Animal Genes : TreeFamPMS2P3
HOVERGENQ13401
HOGENOMQ13401
Homologs : HomoloGenePMS2P3
Homology/Alignments : Family Browser (UCSC)PMS2P3
Gene fusions - Rearrangements
Fusion Cancer (Beijing)PMS2P3 [7q11.23]  -  PRKRIP1 [7q22.1]  [FUSC000604]  [FUSC000604]  [FUSC000604]  [FUSC000604]  [FUSC000604]  [FUSC000604]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMS2P3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMS2P3
dbVarPMS2P3
ClinVarPMS2P3
1000_GenomesPMS2P3 
Exome Variant ServerPMS2P3
ExAC (Exome Aggregation Consortium)PMS2P3 (select the gene name)
Genetic variants : HAPMAP5387
Genomic Variants (DGV)PMS2P3 [DGVbeta]
DECIPHER (Syndromes)7:75137069-75157285  ENSG00000127957
CONAN: Copy Number AnalysisPMS2P3 
Mutations
ICGC Data PortalPMS2P3 
TCGA Data PortalPMS2P3 
Broad Tumor PortalPMS2P3
OASIS PortalPMS2P3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPMS2P3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPMS2P3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PMS2P3
DgiDB (Drug Gene Interaction Database)PMS2P3
DoCM (Curated mutations)PMS2P3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PMS2P3 (select a term)
intoGenPMS2P3
Cancer3DPMS2P3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenPMS2P3
Genetic Testing Registry PMS2P3
NextProtQ13401 [Medical]
TSGene5387
GENETestsPMS2P3
Huge Navigator PMS2P3 [HugePedia]
snp3D : Map Gene to Disease5387
BioCentury BCIQPMS2P3
ClinGenPMS2P3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5387
Chemical/Pharm GKB GenePA33454
Clinical trialPMS2P3
Miscellaneous
canSAR (ICR)PMS2P3 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePMS2P3
EVEXPMS2P3
GoPubMedPMS2P3
iHOPPMS2P3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:21:58 CET 2017

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