PPP1R18 (protein phosphatase 1 regulatory subunit 18)

2014-11-01  

Identity

HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
HKMT1098,KIAA1949
FUSION GENES

Other Information

Locus ID:

NCBI: 170954
MIM: 610990
HGNC: 29413
Ensembl: ENSG00000146112

Variants:

dbSNP: 170954
ClinVar: 170954
TCGA: ENSG00000146112
COSMIC: PPP1R18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146112ENST00000274853Q6NYC8
ENSG00000146112ENST00000274853A0A024RCJ8
ENSG00000146112ENST00000399199Q6NYC8
ENSG00000146112ENST00000399199A0A024RCJ8
ENSG00000146112ENST00000615527Q6NYC8
ENSG00000146112ENST00000615527A0A024RCJ8
ENSG00000146112ENST00000615892Q6NYC8

Expression (GTEx)

0
50
100
150
200
250

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD31616045
PA445846ThrombocytopeniaDiseaseClinicalAnnotationassociatedPD31616045
PA448803carboplatinChemicalClinicalAnnotationassociatedPD31616045
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD31616045

References

Pubmed IDYearTitleCitations
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
173745232007Identification of phostensin, a PP1 F-actin cytoskeleton targeting subunit.18
196223462009Phostensin caps to the pointed end of actin filaments and modulates actin dynamics.14
218040782011Immunolocalization of phostensin in lymphatic cells and tissues.3
291582942018The Actin-Binding Protein PPP1r18 Regulates Maturation, Actin Organization, and Bone Resorption Activity of Osteoclasts.2

Citation

Dessen P

PPP1R18 (protein phosphatase 1 regulatory subunit 18)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72143/ppp1r18