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Aliases for PRKCH Gene

Aliases for PRKCH Gene

  • Protein Kinase C Eta 2 3 5
  • NPKC-Eta 3 4
  • PRKCL 3 4
  • PKC-L 3 4
  • PKCL 3 4
  • Protein Kinase C Eta Type 3
  • Protein Kinase C, Eta 2
  • EC 2.7.11.13 4

External Ids for PRKCH Gene

Previous HGNC Symbols for PRKCH Gene

  • PRKCL

Previous GeneCards Identifiers for PRKCH Gene

  • GC14P059114
  • GC14P055582
  • GC14P059778
  • GC14P060858
  • GC14P061788
  • GC14P041951
  • GC14P061655

Summaries for PRKCH Gene

Entrez Gene Summary for PRKCH Gene

  • Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in this gene are associated with susceptibility to cerebral infarction. [provided by RefSeq, Sep 2015]

GeneCards Summary for PRKCH Gene

PRKCH (Protein Kinase C Eta) is a Protein Coding gene. Diseases associated with PRKCH include Stroke, Ischemic and Glioblastoma. Among its related pathways are Development Slit-Robo signaling and ADP signalling through P2Y purinoceptor 12. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is PRKCE.

UniProtKB/Swiss-Prot for PRKCH Gene

  • Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentiation. Associates with the cyclin CCNE1-CDK2-CDKN1B complex and inhibits CDK2 kinase activity, leading to RB1 dephosphorylation and thereby G1 arrest in keratinocytes. In association with RALA activates actin depolymerization, which is necessary for keratinocyte differentiation. In the pre-B cell receptor signaling, functions downstream of BLNK by up-regulating IRF4, which in turn activates L chain gene rearrangement. Regulates epithelial tight junctions (TJs) by phosphorylating occludin (OCLN) on threonine residues, which is necessary for the assembly and maintenance of TJs. In association with PLD2 and via TLR4 signaling, is involved in lipopolysaccharide (LPS)-induced RGS2 down-regulation and foam cell formation. Upon PMA stimulation, mediates glioblastoma cell proliferation by activating the mTOR pathway, the PI3K/AKT pathway and the ERK1-dependent phosphorylation of ELK1. Involved in the protection of glioblastoma cells from irradiation-induced apoptosis by preventing caspase-9 activation. In camptothecin-treated MCF-7 cells, regulates NF-kappa-B upstream signaling by activating IKBKB, and confers protection against DNA damage-induced apoptosis. Promotes oncogenic functions of ATF2 in the nucleus while blocking its apoptotic function at mitochondria. Phosphorylates ATF2 which promotes its nuclear retention and transcriptional activity and negatively regulates its mitochondrial localization.

Tocris Summary for PRKCH Gene

  • Protein kinase C (PKC) refers to a family of serine/threonine protein kinases grouped by their activation mechanism. Conventional PKCs (cPKC alpha-, betaI- , betaII- and gamma-) are activated by phosphatidylserine in a calcium dependent manner and can bind diacylglycerol.

Gene Wiki entry for PRKCH Gene

Additional gene information for PRKCH Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKCH Gene

Genomics for PRKCH Gene

GeneHancer (GH) Regulatory Elements for PRKCH Gene

Promoters and enhancers for PRKCH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J061320 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 683.6 +149.9 149854 33.6 HDGF PKNOX1 FOXA2 ARNT SIN3A YBX1 FEZF1 ZNF2 IRF4 YY1 PRKCH TRMT5 TMEM30B SLC38A6 LOC105370527 ENSG00000247287 GC14M061347
GH14J061376 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 662.3 +197.6 197611 17.9 HDGF PKNOX1 CLOCK SMAD1 FEZF1 YBX1 ZNF2 TCF12 ZNF121 ZNF213 PRKCH TMEM30B SALRNA1 LOC105370525 ENSG00000247287 GC14M061347
GH14J061544 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 659.7 +359.7 359737 5.7 SOX5 SOX13 PKNOX1 RXRA HLF CEBPB CEBPG EP300 TEAD3 NFIL3 PRKCH LOC105370525 LINC01303 ENSG00000232774 HIF1A ENSG00000258989 FLJ22447
GH14J061186 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 660.9 +1.2 1183 4.1 ELF3 RB1 ZSCAN4 ARID4B SIN3A ZNF48 RAD21 ZNF366 SCRT2 ZNF143 PRKCH TRMT5 TMEM30B
GH14J061185 Enhancer 0.4 FANTOM5 650.7 -1.6 -1598 0.1 ZNF512B IRF5 SALL2 PRKCH GC14M061127
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRKCH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRKCH gene promoter:
  • ATF
  • FOXD3
  • TBP
  • TFIID
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4

Genomic Locations for PRKCH Gene

Genomic Locations for PRKCH Gene
chr14:61,187,559-61,550,980
(GRCh38/hg38)
Size:
363,422 bases
Orientation:
Plus strand
chr14:61,654,277-62,017,698
(GRCh37/hg19)
Size:
363,422 bases
Orientation:
Plus strand

Genomic View for PRKCH Gene

Genes around PRKCH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRKCH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRKCH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRKCH Gene

Proteins for PRKCH Gene

  • Protein details for PRKCH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24723-KPCL_HUMAN
    Recommended name:
    Protein kinase C eta type
    Protein Accession:
    P24723
    Secondary Accessions:
    • B4DJN5
    • Q16246
    • Q8NE03

    Protein attributes for PRKCH Gene

    Size:
    683 amino acids
    Molecular mass:
    77828 Da
    Quaternary structure:
    • Interacts with FYN and RALA (By similarity). Interacts with DGKQ.

    Three dimensional structures from OCA and Proteopedia for PRKCH Gene

    Alternative splice isoforms for PRKCH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKCH Gene

Post-translational modifications for PRKCH Gene

  • Ubiquitination at Lys404 and posLast=3636
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PRKCH Gene

Domains & Families for PRKCH Gene

Gene Families for PRKCH Gene

HGNC:
IUPHAR :
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P24723

UniProtKB/Swiss-Prot:

KPCL_HUMAN :
  • The C1 domain, containing the phorbol ester/DAG-type region 1 (C1A) and 2 (C1B), is the diacylglycerol sensor and the C2 domain is a non-calcium binding domain.
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily.
Domain:
  • The C1 domain, containing the phorbol ester/DAG-type region 1 (C1A) and 2 (C1B), is the diacylglycerol sensor and the C2 domain is a non-calcium binding domain.
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily.
genes like me logo Genes that share domains with PRKCH: view

Function for PRKCH Gene

Molecular function for PRKCH Gene

UniProtKB/Swiss-Prot Function:
Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentiation. Associates with the cyclin CCNE1-CDK2-CDKN1B complex and inhibits CDK2 kinase activity, leading to RB1 dephosphorylation and thereby G1 arrest in keratinocytes. In association with RALA activates actin depolymerization, which is necessary for keratinocyte differentiation. In the pre-B cell receptor signaling, functions downstream of BLNK by up-regulating IRF4, which in turn activates L chain gene rearrangement. Regulates epithelial tight junctions (TJs) by phosphorylating occludin (OCLN) on threonine residues, which is necessary for the assembly and maintenance of TJs. In association with PLD2 and via TLR4 signaling, is involved in lipopolysaccharide (LPS)-induced RGS2 down-regulation and foam cell formation. Upon PMA stimulation, mediates glioblastoma cell proliferation by activating the mTOR pathway, the PI3K/AKT pathway and the ERK1-dependent phosphorylation of ELK1. Involved in the protection of glioblastoma cells from irradiation-induced apoptosis by preventing caspase-9 activation. In camptothecin-treated MCF-7 cells, regulates NF-kappa-B upstream signaling by activating IKBKB, and confers protection against DNA damage-induced apoptosis. Promotes oncogenic functions of ATF2 in the nucleus while blocking its apoptotic function at mitochondria. Phosphorylates ATF2 which promotes its nuclear retention and transcriptional activity and negatively regulates its mitochondrial localization.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Novel PKCs (PRKCD, PRKCE, PRKCH and PRKCQ) are calcium-insensitive, but activated by diacylglycerol (DAG) and phosphatidylserine. Three specific sites; Thr-513 (activation loop of the kinase domain), Thr-656 (turn motif) and Ser-675 (hydrophobic region), need to be phosphorylated for its full activation.

Enzyme Numbers (IUBMB) for PRKCH Gene

Phenotypes From GWAS Catalog for PRKCH Gene

Gene Ontology (GO) - Molecular Function for PRKCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IBA,IEA --
GO:0004697 protein kinase C activity TAS 1986216
GO:0004699 calcium-independent protein kinase C activity IEA --
GO:0005515 protein binding IPI 19114660
genes like me logo Genes that share ontologies with PRKCH: view
genes like me logo Genes that share phenotypes with PRKCH: view

Animal Models for PRKCH Gene

MGI Knock Outs for PRKCH:

Animal Model Products

Clone Products

  • Addgene plasmids for PRKCH

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PRKCH Gene

Localization for PRKCH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRKCH Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRKCH gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
mitochondrion 2
cytoskeleton 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRKCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA,IDA 15632189
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 15632189
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with PRKCH: view

Pathways & Interactions for PRKCH Gene

genes like me logo Genes that share pathways with PRKCH: view

Pathways by source for PRKCH Gene

SIGNOR curated interactions for PRKCH Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for PRKCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA,IMP 22304920
GO:0007165 signal transduction TAS 1986216
GO:0010744 positive regulation of macrophage derived foam cell differentiation ISS --
GO:0016310 phosphorylation IEA --
GO:0018105 peptidyl-serine phosphorylation IBA --
genes like me logo Genes that share ontologies with PRKCH: view

Drugs & Compounds for PRKCH Gene

(15) Drugs for PRKCH Gene - From: DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ingenol Mebutate Approved Pharma 0
calcium Approved Nutra 0
Staurosporine Experimental Pharma Neutral, Allosteric regulator, Positive Protein kinase inhibitor,potent and cell permeable 51
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
(-)-Epigallocatechin gallate (EGCG) Pharma Antioxidant, antiangiogenic and antitumor agent 0

(9) Additional Compounds for PRKCH Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Diglycerides Group A
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group B
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group C
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z,14Z)-icosa-11,14-dienoic acid
  • DAG(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2)
  • DAG(15:0/0:0/20:2n6)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)

(5) Tocris Compounds for PRKCH Gene

Compound Action Cas Number
Calphostin C Potent, selective and photo-dependent PKC inhibitor 121263-19-2
CGP 53353 Selective inhibitor of PKCbetaII 145915-60-2
GF 109203X Protein kinase C inhibitor 133052-90-1
Oncrasin 1 Induces abnormal nuclear aggregation of PKCiota; proapoptotic 75629-57-1
Rottlerin Reported PKCdelta inhibitor 82-08-6
genes like me logo Genes that share compounds with PRKCH: view

Transcripts for PRKCH Gene

Unigene Clusters for PRKCH Gene

Protein kinase C, eta:
Representative Sequences:

Clone Products

  • Addgene plasmids for PRKCH

Alternative Splicing Database (ASD) splice patterns (SP) for PRKCH Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b
SP1: - - - - - - -
SP2: - -
SP3:
SP4: -
SP5:
SP6: - - - -
SP7: - - -
SP8:

Relevant External Links for PRKCH Gene

GeneLoc Exon Structure for
PRKCH
ECgene alternative splicing isoforms for
PRKCH

Expression for PRKCH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRKCH Gene

mRNA differential expression in normal tissues according to GTEx for PRKCH Gene

This gene is overexpressed in Whole Blood (x4.4).

Protein differential expression in normal tissues from HIPED for PRKCH Gene

This gene is overexpressed in CD8 Tcells (22.4), Tlymphocyte (13.7), Lung (12.1), and Placenta (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRKCH Gene



Protein tissue co-expression partners for PRKCH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRKCH Gene:

PRKCH

SOURCE GeneReport for Unigene cluster for PRKCH Gene:

Hs.333907

mRNA Expression by UniProt/SwissProt for PRKCH Gene:

P24723-KPCL_HUMAN
Tissue specificity: Most abundant in lung, less in heart and skin.

Evidence on tissue expression from TISSUES for PRKCH Gene

  • Lung(4.4)
  • Nervous system(4.4)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with PRKCH: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PRKCH Gene

Orthologs for PRKCH Gene

This gene was present in the common ancestor of animals.

Orthologs for PRKCH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRKCH 34 33
  • 99.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRKCH 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRKCH 34 33
  • 93.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRKCH 34 33
  • 92.42 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prkch 33
  • 90.09 (n)
mouse
(Mus musculus)
Mammalia Prkch 16 34 33
  • 90.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PRKCH 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRKCH 34 33
  • 79.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRKCH 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prkch 33
  • 72.1 (n)
zebrafish
(Danio rerio)
Actinopterygii prkcha 34 33
  • 66.22 (n)
OneToMany
prkchb 34
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pkc98E 34 35
  • 51 (a)
OneToMany
Pkc&dgr; 35
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea pkc-1 34
  • 51 (a)
OneToMany
R12G8.1 35
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2703 34
  • 48 (a)
OneToMany
Species where no ortholog for PRKCH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRKCH Gene

ENSEMBL:
Gene Tree for PRKCH (if available)
TreeFam:
Gene Tree for PRKCH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRKCH: view image

Paralogs for PRKCH Gene

Paralogs for PRKCH Gene

(97) SIMAP similar genes for PRKCH Gene using alignment to 16 proteins:

  • KPCL_HUMAN
  • B4DJN5_HUMAN
  • B5BU77_HUMAN
  • G3V304_HUMAN
  • G3V3E7_HUMAN
  • G3V4G6_HUMAN
  • G3V4H0_HUMAN
  • G3V4L3_HUMAN
  • G3V4Q6_HUMAN
  • G3V4Q9_HUMAN
  • G3V4X4_HUMAN
  • G3V520_HUMAN
  • G3V5F8_HUMAN
  • G3V5U5_HUMAN
  • G3V5Y6_HUMAN
  • Q9BVQ0_HUMAN

Pseudogenes.org Pseudogenes for PRKCH Gene

genes like me logo Genes that share paralogs with PRKCH: view

Variants for PRKCH Gene

Sequence variations from dbSNP and Humsavar for PRKCH Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs2230500 risk-factor, Cerebral infarction, susceptibility to 61,457,521(+) G/A coding_sequence_variant, missense_variant
VAR_042317 A colorectal adenocarcinoma sample p.Thr594Ile
rs1000008466 -- 61,336,923(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000014371 -- 61,486,386(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000015382 -- 61,279,929(+) CCCCCC/CC/CCCC upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PRKCH Gene

Variant ID Type Subtype PubMed ID
esv1002305 CNV loss 20482838
esv2422159 CNV deletion 20811451
esv2657744 CNV deletion 23128226
esv2663429 CNV deletion 23128226
esv2760339 CNV loss 21179565
esv2760363 CNV loss 21179565
esv3634683 CNV loss 21293372
esv3634684 CNV loss 21293372
nsv1035816 CNV loss 25217958
nsv1040130 CNV gain 25217958
nsv1297 CNV insertion 18451855
nsv442341 CNV loss 18776908
nsv470650 CNV loss 18288195
nsv514743 CNV loss 21397061
nsv517477 CNV loss 19592680
nsv517729 CNV loss 19592680
nsv564881 CNV gain 21841781
nsv976843 CNV deletion 23825009

Variation tolerance for PRKCH Gene

Residual Variation Intolerance Score: 7.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.21; 62.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRKCH Gene

Human Gene Mutation Database (HGMD)
PRKCH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRKCH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKCH Gene

Disorders for PRKCH Gene

MalaCards: The human disease database

(2) MalaCards diseases for PRKCH Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
stroke, ischemic
  • cerebrovascular accident
glioblastoma
  • glioblastoma multiforme
- elite association - COSMIC cancer census association via MalaCards
Search PRKCH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KPCL_HUMAN
  • Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269 PubMed:17206144}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for PRKCH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PRKCH: view

No data available for Genatlas for PRKCH Gene

Publications for PRKCH Gene

  1. The 1425G/A SNP in PRKCH is associated with ischemic stroke and cerebral hemorrhage in a Chinese population. (PMID: 19520989) Wu L … Wang X (Stroke 2009) 3 22 44 58
  2. Association between PRKCH gene polymorphisms and subcortical silent brain infarction. (PMID: 18164711) Serizawa M … Kato N (Atherosclerosis 2008) 3 22 44 58
  3. [Genetic risk factors of ischemic stroke identified by a genome-wide association study]. (PMID: 19069168) Kubo M (Brain and nerve = Shinkei kenkyu no shinpo 2008) 3 22 44 58
  4. The protein kinase C-eta isoform induces proliferation in glioblastoma cell lines through an ERK/Elk-1 pathway. (PMID: 17146445) Uht RM … Hussaini IM (Oncogene 2007) 3 4 22 58
  5. A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction. (PMID: 17206144) Kubo M … Kiyohara Y (Nature genetics 2007) 3 4 22 58

Products for PRKCH Gene