Identity
HGNC
LOCATION
2p16.3
LOCUSID
ALIAS
CCDC128,KLRAQ1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 129285
MIM: 618159
HGNC: 30595
Ensembl: ENSG00000162869
Variants:
dbSNP: 129285
ClinVar: 129285
TCGA: ENSG00000162869
COSMIC: PPP1R21
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38356149 | 2024 | Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. | 0 |
| 38356149 | 2024 | Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. | 0 |
| 36692708 | 2023 | A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. | 1 |
| 36692708 | 2023 | A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. | 1 |
| 30520571 | 2019 | Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. | 14 |
| 30520571 | 2019 | Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. | 14 |
| 29808498 | 2018 | PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities. | 4 |
| 29808498 | 2018 | PPP1R21 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/ppp1r21-(protein-phosphatase-1-regulatory-subunit-21)
