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PPP1R18 (protein phosphatase 1 regulatory subunit 18)

Identity

Alias_namesKIAA1949
KIAA1949
protein phosphatase 1, regulatory subunit 18
Alias_symbol (synonym)phostensin
Other aliasHKMT1098
HGNC (Hugo) PPP1R18
LocusID (NCBI) 170954
Atlas_Id 72143
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 30676389 and ends at 30687316 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)
PNMA5 (Xq28) / PPP1R18 (6p21.33)PPP1R18 (6p21.33) / PNMA5 (Xq28)PPP1R18 (6p21.33) / PPP1R18 (6p21.33)

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)PPP1R18   29413
Cards
Entrez_Gene (NCBI)PPP1R18  170954  protein phosphatase 1 regulatory subunit 18
AliasesHKMT1098; KIAA1949
GeneCards (Weizmann)PPP1R18
Ensembl hg19 (Hinxton)ENSG00000146112 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146112 [Gene_View]  ENSG00000146112 [Sequence]  chr6:30676389-30687316 [Contig_View]  PPP1R18 [Vega]
ICGC DataPortalENSG00000146112
TCGA cBioPortalPPP1R18
AceView (NCBI)PPP1R18
Genatlas (Paris)PPP1R18
WikiGenes170954
SOURCE (Princeton)PPP1R18
Genetics Home Reference (NIH)PPP1R18
Genomic and cartography
GoldenPath hg38 (UCSC)PPP1R18  -     chr6:30676389-30687316 -  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PPP1R18  -     6p21.33   [Description]    (hg19-Feb_2009)
EnsemblPPP1R18 - 6p21.33 [CytoView hg19]  PPP1R18 - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBIPPP1R18 [Mapview hg19]  PPP1R18 [Mapview hg38]
OMIM610990   
Gene and transcription
Genbank (Entrez)AB073600 AB075829 AK097089 AK124880 AK125639
RefSeq transcript (Entrez)NM_001134870 NM_133471
RefSeq genomic (Entrez)NC_000006 NC_018917 NT_113891 NT_167244 NT_167245 NT_167246 NT_167247 NT_167248
Consensus coding sequences : CCDS (NCBI)PPP1R18
Cluster EST : UnigeneHs.101150 [ NCBI ]
CGAP (NCI)Hs.101150
Alternative Splicing GalleryENSG00000146112
Gene ExpressionPPP1R18 [ NCBI-GEO ]   PPP1R18 [ EBI - ARRAY_EXPRESS ]   PPP1R18 [ SEEK ]   PPP1R18 [ MEM ]
Gene Expression Viewer (FireBrowse)PPP1R18 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)170954
GTEX Portal (Tissue expression)PPP1R18
Human Protein AtlasENSG00000146112-PPP1R18 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NYC8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NYC8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NYC8
Splice isoforms : SwissVarQ6NYC8
PhosPhoSitePlusQ6NYC8
Domains : Interpro (EBI)Phostensin/Taperin_N_dom    Phostensin/Taperin_PP1-bd_dom    PPP1R18/Tprn   
Domain families : Pfam (Sanger)Phostensin (PF13914)    Phostensin_N (PF13916)   
Domain families : Pfam (NCBI)pfam13914    pfam13916   
Conserved Domain (NCBI)PPP1R18
DMDM Disease mutations170954
Blocks (Seattle)PPP1R18
SuperfamilyQ6NYC8
Human Protein Atlas [tissue]ENSG00000146112-PPP1R18 [tissue]
Peptide AtlasQ6NYC8
IPIIPI00152853   IPI00445658   IPI01022308   IPI00445330   IPI00738765   IPI00930215   
Protein Interaction databases
DIP (DOE-UCLA)Q6NYC8
IntAct (EBI)Q6NYC8
FunCoupENSG00000146112
BioGRIDPPP1R18
STRING (EMBL)PPP1R18
ZODIACPPP1R18
Ontologies - Pathways
QuickGOQ6NYC8
Ontology : AmiGOactin binding  protein binding  cytoplasm  cytoskeleton  phosphatase binding  
Ontology : EGO-EBIactin binding  protein binding  cytoplasm  cytoskeleton  phosphatase binding  
NDEx NetworkPPP1R18
Atlas of Cancer Signalling NetworkPPP1R18
Wikipedia pathwaysPPP1R18
Orthology - Evolution
OrthoDB170954
GeneTree (enSembl)ENSG00000146112
Phylogenetic Trees/Animal Genes : TreeFamPPP1R18
HOVERGENQ6NYC8
HOGENOMQ6NYC8
Homologs : HomoloGenePPP1R18
Homology/Alignments : Family Browser (UCSC)PPP1R18
Gene fusions - Rearrangements
Fusion : QuiverPPP1R18
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPPP1R18 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PPP1R18
dbVarPPP1R18
ClinVarPPP1R18
1000_GenomesPPP1R18 
Exome Variant ServerPPP1R18
ExAC (Exome Aggregation Consortium)ENSG00000146112
GNOMAD BrowserENSG00000146112
Varsome BrowserPPP1R18
Genetic variants : HAPMAP170954
Genomic Variants (DGV)PPP1R18 [DGVbeta]
DECIPHERPPP1R18 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPPP1R18 
Mutations
ICGC Data PortalPPP1R18 
TCGA Data PortalPPP1R18 
Broad Tumor PortalPPP1R18
OASIS PortalPPP1R18 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDPPP1R18
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 PPP1R18
DgiDB (Drug Gene Interaction Database)PPP1R18
DoCM (Curated mutations)PPP1R18 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PPP1R18 (select a term)
intoGenPPP1R18
Cancer3DPPP1R18(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610990   
Orphanet
DisGeNETPPP1R18
MedgenPPP1R18
Genetic Testing Registry PPP1R18
NextProtQ6NYC8 [Medical]
TSGene170954
GENETestsPPP1R18
Target ValidationPPP1R18
Huge Navigator PPP1R18 [HugePedia]
snp3D : Map Gene to Disease170954
BioCentury BCIQPPP1R18
ClinGenPPP1R18
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD170954
Chemical/Pharm GKB GenePA134918172
Clinical trialPPP1R18
Miscellaneous
canSAR (ICR)PPP1R18 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePPP1R18
EVEXPPP1R18
GoPubMedPPP1R18
iHOPPPP1R18
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 14:24:47 CEST 2018

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