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PRKCE |
Gene Facts External Data Attribution
- HGNC Symbol
- PRKCE (HGNC:9401) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- protein kinase C epsilon
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 5.17(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.28(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:45878814-46415129 NCBI Ensembl UCSC GRCh38/hg38: chr2:45651279-46187990 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005400.3 ENST00000306156.8 (Read more about MANE Select)
- Function
- Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin- dependent signaling, by... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-1341
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)
