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
383561492024Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.0
383561492024Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.0
366927082023A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.1
366927082023A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.1
305205712019Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.14
305205712019Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.14
298084982018PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.4
298084982018PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.4

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/gene-fusions-explorer/favicon/welcome