PPP1R21 |
Gene Facts External Data Attribution
- HGNC Symbol
- PPP1R21 (HGNC:30595) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- protein phosphatase 1 regulatory subunit 21
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CCDC128, KLRAQ1
- Alias symbols
- FLJ16566, Fy-2, FERRY2
- %HI
- 37.35(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.03(Read more about gnomAD LOEUF score)
- Cytoband
- 2p16.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:48667905-48742525 NCBI Ensembl UCSC GRCh38/hg38: chr2:48440766-48515386 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001135629.3 ENST00000294952.13 (Read more about MANE Select)
- Function
- Putative regulator of protein phosphatase 1 (PP1) activity (PubMed:19389623). May play a role in the endosomal sorting process or in endosome maturation pathway (PubMed:30520571). {ECO:0000269|PubMed:30520571, ECO:0000305|PubMed:19389623}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28027
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)