Gene Gene information from NCBI Gene database.
Entrez ID 5580
Gene name Protein kinase C delta
Gene symbol PRKCD
Synonyms (NCBI Gene)
ALPS3CVID9MAY1PKCDnPKC-delta
Chromosome 3
Chromosome location 3p21.1
Summary The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progres
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs33911937 A>G Conflicting-interpretations-of-pathogenicity Intron variant, missense variant, coding sequence variant
rs398122958 G>A Pathogenic Splice donor variant
rs606231296 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs606231297 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1295207359 A>G Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
195
miRTarBase ID miRNA Experiments Reference
MIRT041814 hsa-miR-484 CLASH 23622248
MIRT039609 hsa-miR-615-3p CLASH 23622248
MIRT039609 hsa-miR-615-3p CLASH 23622248
MIRT053097 hsa-miR-26a-5p Luciferase reporter assayWestern blot 23525216
MIRT163342 hsa-miR-181a-5p Luciferase reporter assay 24183997
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
101
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IDA 24008408, 34593629
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IDA 10770950, 18285462, 19059439
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176977 9399 ENSG00000163932
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q05655
Protein name Protein kinase C delta type (EC 2.7.11.13) (Tyrosine-protein kinase PRKCD) (EC 2.7.10.2) (nPKC-delta) [Cleaved into: Protein kinase C delta type regulatory subunit; Protein kinase C delta type catalytic subunit (Sphingosine-dependent protein kinase-1) (SD
Protein function Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but
PDB 1YRK , 2YUU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00130 C1_1 159 211 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00130 C1_1 231 283 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00069 Pkinase 349 603 Protein kinase domain Domain
PF00433 Pkinase_C 624 665 Protein kinase C terminal domain Family
Sequence
MAPFLRIAFNSYELGSLQAEDEANQPFCAVKMKEALSTERGKTLVQKKPTMYPEWKSTFD
AHIYEGRVIQIVLMRAAEEPVSEVTVGVSVLAERCKKNNGKAEFWLDLQPQAKVLMSVQY
FLEDVDCKQSMRSEDEAKFPTMNRRGAIKQAKIHYIKNHEFIATFFGQPTFCSVCKDFVW
GLNKQGYKCRQCNAAIHKKCIDKIIGRCTGT
AANSRDTIFQKERFNIDMPHRFKVHNYMS
PTFCDHCGSLLWGLVKQGLKCEDCGMNVHHKCREKVANLCGIN
QKLLAEALNQVTQRASR
RSDSASSEPVGIYQGFEKKTGVAGEDMQDNSGTYGKIWEGSSKCNINNFIFHKVLGKGSF
GKVLLGELKGRGEYFAIKALKKDVVLIDDDVECTMVEKRVLTLAAENPFLTHLICTFQTK
DHLFFVMEFLNGGDLMYHIQDKGRFELYRATFYAAEIMCGLQFLHSKGIIYRDLKLDNVL
LDRDGHIKIADFGMCKENIFGESRASTFCGTPDYIAPEILQGLKYTFSVDWWSFGVLLYE
MLIGQSPFHGDDEDELFESIRVDTPHYPRWITKESKDILEKLFEREPTKRLGVTGNIKIH
PFF
KTINWTLLEKRRLEPPFRPKVKSPRDYSNFDQEFLNEKARLSYSDKNLIDSMDQSAF
AGFSF
VNPKFEHLLED
Sequence length 676
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Chemokine signaling pathway
Autophagy - animal
Vascular smooth muscle contraction
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
Fc gamma R-mediated phagocytosis
Neurotrophin signaling pathway
Inflammatory mediator regulation of TRP channels
GnRH signaling pathway
Estrogen signaling pathway
Type II diabetes mellitus
Insulin resistance
AGE-RAGE signaling pathway in diabetic complications
Prion disease
Shigellosis
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Apoptotic cleavage of cellular proteins
Calmodulin induced events
Effects of PIP2 hydrolysis
SHC1 events in ERBB2 signaling
DAG and IP3 signaling
Role of phospholipids in phagocytosis
HuR (ELAVL1) binds and stabilizes mRNA
VEGFR2 mediated cell proliferation
CLEC7A (Dectin-1) signaling
RHO GTPases Activate NADPH Oxidases
Neutrophil degranulation
Interferon gamma signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
477
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD Pathogenic; Likely pathogenic rs781824115, rs2107263484, rs1553669486, rs2107267894, rs2107257357, rs1559629912, rs606231296, rs2471106746, rs2471094850, rs2471099139, rs1703450134, rs1295207359, rs576747810, rs398122958 RCV001385018
RCV001776307
RCV001776308
RCV001776309
RCV001960700
RCV001972817
RCV000144965
RCV002863475
RCV002974924
RCV003057564
RCV003745147
RCV000651930
RCV001231375
RCV000074607
Lymphoma Pathogenic rs576747810, rs398122958 RCV005909094
RCV005890427
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs782588098 RCV004557904
PRKCD-related disorder Likely benign; Benign rs2471085779, rs782032884, rs180706867, rs782735766, rs141412493, rs529176751, rs149751382, rs782548097, rs201862364, rs200076653 RCV003947349
RCV003983574
RCV003925697
RCV003935520
RCV003920735
RCV004758751
RCV003950566
RCV003942879
RCV003960499
RCV003972957
See cases Uncertain significance rs782059592 RCV002252915
Thyroid cancer, nonmedullary, 1 Uncertain significance rs140359417 RCV005908989
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 17608772
Adenocarcinoma of Lung Associate 16055435, 36254009, 38186574
Adenoma Associate 25371776
Alzheimer Disease Associate 18336728, 37418137
Aortic Dissection Associate 33083483
Arthritis Rheumatoid Associate 27915349
Arthropathy progressive pseudorheumatoid of childhood Associate 17200207
Atherosclerosis Associate 27910925
Autoimmune Diseases Associate 36782298
Bone Diseases Metabolic Associate 25420887