PPP1R21 (protein phosphatase 1 regulatory subunit 21)

2014-11-01  

Identity

HGNC
LOCATION
2p16.3
LOCUSID
ALIAS
CCDC128,KLRAQ1
FUSION GENES

Other Information

Locus ID:

NCBI: 129285
MIM: 618159
HGNC: 30595
Ensembl: ENSG00000162869

Variants:

dbSNP: 129285
ClinVar: 129285
TCGA: ENSG00000162869
COSMIC: PPP1R21

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162869ENST00000281394Q6ZMI0
ENSG00000162869ENST00000294952Q6ZMI0
ENSG00000162869ENST00000416913F8WE40
ENSG00000162869ENST00000421486F8W7E1
ENSG00000162869ENST00000431614F8WBY8
ENSG00000162869ENST00000449090Q6ZMI0
ENSG00000162869ENST00000455978H7C1Y1

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
305205712019Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.4
298084982018PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.1

Citation

Dessen P

PPP1R21 (protein phosphatase 1 regulatory subunit 21)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72144/ppp1r21