PRKCH
gene geneOn this page
Also known as PKC-LPKCL
Summary
PRKCH (protein kinase C eta, HGNC:9403) is a protein-coding gene on chromosome 14q23.1, encoding PRKCH upstream open reading frame 2 (C0HM02). Product of an upstream open reading frame (ORF) of PRKCH which regulates translation of the downstream protein kinase C eta (PKC-eta) ORF.
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.
Source: NCBI Gene 5583 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 156 total
- GTEx eGene: eQTL in 13 tissues, sQTL in 4 (q < 0.05)
- Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.47 (moderately constrained)
- MANE Select transcript:
NM_006255 - Notable: 156 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9403 |
| Approved symbol | PRKCH |
| Name | protein kinase C eta |
| Location | 14q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PKC-L, PKCL |
| Ensembl gene | ENSG00000027075 |
| Ensembl biotype | protein_coding |
| OMIM | 605437 |
| Entrez | 5583 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 16 protein_coding, 13 protein_coding_CDS_not_defined
MANE Select: ENST00000332981
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 3, TSL 3: 10, TSL 4: 9, TSL 5: 3
ENST00000332981, ENST00000536400, ENST00000552875, ENST00000553265, ENST00000553726, ENST00000553830, ENST00000553831, ENST00000553846, ENST00000553889, ENST00000554835, ENST00000555082, ENST00000555110, ENST00000555185, ENST00000555233, ENST00000555382, ENST00000555542, ENST00000555604, ENST00000555628, ENST00000555906, ENST00000556164, ENST00000556245, ENST00000556778, ENST00000557294, ENST00000557473, ENST00000557559, ENST00000557585, ENST00000557599, ENST00001108020, ENST00001134091
RefSeq mRNA: 1 — MANE Select: NM_006255
NM_006255
CCDS: CCDS9752
Canonical transcript exons
ENST00000332981 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001313856 | 61321579 | 61322464 |
| ENSE00002516287 | 61549685 | 61550976 |
| ENSE00003468824 | 61450842 | 61450971 |
| ENSE00003468881 | 61457506 | 61457679 |
| ENSE00003468962 | 61485502 | 61485656 |
| ENSE00003476188 | 61453226 | 61453353 |
| ENSE00003512561 | 61457176 | 61457319 |
| ENSE00003535166 | 61391225 | 61391288 |
| ENSE00003566321 | 61547743 | 61547886 |
| ENSE00003575400 | 61445692 | 61445726 |
| ENSE00003584360 | 61530407 | 61530595 |
| ENSE00003642436 | 61529075 | 61529213 |
| ENSE00003683690 | 61443111 | 61443261 |
| ENSE00003788450 | 61449164 | 61449252 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 97.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.9721 / max 3450.7001, expressed in 1110 samples.
Highest expression (Bgee): parotid gland, granulocyte, esophagus squamous epithelium, epithelium of esophagus, lymph node.
Genetic regulation across tissues (GTEx eQTL / sQTL)
PRKCH is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 13 tissues and its splicing (sQTL) in 4 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
17 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Muscle Skeletal | eqtl | 1.6e-18 | +0.33 | 14:61188364:A:C |
| Brain Anterior cingulate cortex BA24 | eqtl | 2.3e-07 | +4.34 | 14:61841376:A:G |
| Testis | eqtl | 2.9e-05 | -0.54 | 14:61442459:T:C |
| Adipose Subcutaneous | eqtl | 4.2e-04 | -0.15 | 14:61309089:G:GC |
| Adipose Subcutaneous | sqtl | 4.4e-04 | -0.46 | 14:61525116:T:C |
| Skin Not Sun Exposed Suprapubic | eqtl | 8.1e-04 | -0.24 | 14:61333678:G:C |
| Colon Transverse | eqtl | 4.9e-03 | +0.23 | 14:60298452:A:G |
| Lung | eqtl | 5.2e-03 | -0.15 | 14:61309940:A:AAG |
| Breast Mammary Tissue | eqtl | 9.6e-03 | -0.16 | 14:61299298:G:C |
| Cells Cultured fibroblasts | eqtl | 1.0e-02 | -0.19 | 14:61373199:G:A |
| Esophagus Muscularis | sqtl | 1.2e-02 | -1.36 | 14:60193895:G:A |
| Stomach | sqtl | 1.3e-02 | +1.61 | 14:61690333:G:A |
| Whole Blood | eqtl | 1.3e-02 | -0.07 | 14:61477417:T:C |
| Skin Sun Exposed Lower leg | eqtl | 2.4e-02 | +0.16 | 14:61361484:G:A |
| Cells Cultured fibroblasts | sqtl | 2.8e-02 | +0.29 | 14:61476079:C:T |
| Esophagus Muscularis | eqtl | 3.1e-02 | +0.66 | 14:61762697:C:T |
| Thyroid | eqtl | 3.7e-02 | +0.18 | 14:61350217:C:T |
FANTOM5 promoters
showing 10 of 26 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 139911 | 8.7966 | 851 |
| 139931 | 5.0960 | 246 |
| 139934 | 2.3676 | 112 |
| 139908 | 1.6032 | 503 |
| 139933 | 0.8328 | 117 |
| 139912 | 0.4798 | 265 |
| 139932 | 0.2598 | 59 |
| 139915 | 0.2012 | 80 |
| 139913 | 0.1780 | 94 |
| 139943 | 0.1673 | 41 |
Top tissues by expression
showing 100 of 284 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 97.62 | gold quality |
| granulocyte | CL:0000094 | 97.16 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 95.18 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 94.64 | gold quality |
| lymph node | UBERON:0000029 | 94.62 | gold quality |
| blood | UBERON:0000178 | 94.62 | gold quality |
| tonsil | UBERON:0002372 | 94.55 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.91 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 93.62 | gold quality |
| thymus | UBERON:0002370 | 93.42 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.40 | gold quality |
| right lung | UBERON:0002167 | 93.39 | gold quality |
| visceral pleura | UBERON:0002401 | 93.34 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.10 | gold quality |
| lung | UBERON:0002048 | 93.06 | gold quality |
| spleen | UBERON:0002106 | 92.30 | gold quality |
| sural nerve | UBERON:0015488 | 92.19 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 92.10 | gold quality |
| amniotic fluid | UBERON:0000173 | 92.01 | gold quality |
| squamous epithelium | UBERON:0006914 | 91.79 | gold quality |
| esophagus mucosa | UBERON:0002469 | 91.61 | gold quality |
| placenta | UBERON:0001987 | 91.56 | gold quality |
| oral cavity | UBERON:0000167 | 91.52 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.23 | gold quality |
| bone marrow cell | CL:0002092 | 91.18 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 91.09 | gold quality |
| lower lobe of lung | UBERON:0008949 | 90.97 | gold quality |
| pleura | UBERON:0000977 | 90.90 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 90.69 | gold quality |
| gall bladder | UBERON:0002110 | 90.68 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.64 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.54 | gold quality |
| thyroid gland | UBERON:0002046 | 90.49 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 90.41 | gold quality |
| skin of leg | UBERON:0001511 | 90.35 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 90.31 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 90.29 | gold quality |
| vagina | UBERON:0000996 | 90.17 | gold quality |
| omental fat pad | UBERON:0010414 | 90.09 | gold quality |
| peritoneum | UBERON:0002358 | 90.06 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 90.02 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 89.98 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 89.98 | gold quality |
| zone of skin | UBERON:0000014 | 89.84 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 89.79 | gold quality |
| vermiform appendix | UBERON:0001154 | 89.77 | gold quality |
| parietal pleura | UBERON:0002400 | 89.52 | gold quality |
| adrenal tissue | UBERON:0018303 | 89.31 | gold quality |
| ectocervix | UBERON:0012249 | 89.17 | gold quality |
| uterine cervix | UBERON:0000002 | 89.08 | gold quality |
| apex of heart | UBERON:0002098 | 88.93 | gold quality |
| cervix epithelium | UBERON:0004801 | 88.92 | gold quality |
| penis | UBERON:0000989 | 88.86 | gold quality |
| mouth mucosa | UBERON:0003729 | 88.85 | gold quality |
| minor salivary gland | UBERON:0001830 | 88.82 | gold quality |
| mammalian vulva | UBERON:0000997 | 88.65 | gold quality |
| caecum | UBERON:0001153 | 88.64 | gold quality |
| gingiva | UBERON:0001828 | 88.62 | gold quality |
| upper leg skin | UBERON:0004262 | 88.40 | gold quality |
| adipose tissue | UBERON:0001013 | 88.35 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.23 | gold quality |
| urethra | UBERON:0000057 | 88.20 | gold quality |
| pericardium | UBERON:0002407 | 87.94 | gold quality |
| connective tissue | UBERON:0002384 | 87.92 | gold quality |
| pituitary gland | UBERON:0000007 | 87.66 | gold quality |
| esophagus | UBERON:0001043 | 87.64 | gold quality |
| adenohypophysis | UBERON:0002196 | 87.48 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 87.42 | gold quality |
| body of uterus | UBERON:0009853 | 87.35 | gold quality |
| mammary gland | UBERON:0001911 | 87.32 | gold quality |
| heart left ventricle | UBERON:0002084 | 87.28 | gold quality |
| urinary bladder | UBERON:0001255 | 87.27 | gold quality |
| gingival epithelium | UBERON:0001949 | 87.27 | gold quality |
| cardiac ventricle | UBERON:0002082 | 87.22 | gold quality |
| left uterine tube | UBERON:0001303 | 87.09 | gold quality |
| endocervix | UBERON:0000458 | 87.06 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 86.86 | gold quality |
| periodontal ligament | UBERON:0008266 | 86.86 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 86.84 | gold quality |
| myocardium | UBERON:0002349 | 86.83 | gold quality |
| bone marrow | UBERON:0002371 | 86.81 | gold quality |
| prostate gland | UBERON:0002367 | 86.76 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 86.69 | gold quality |
| right atrium auricular region | UBERON:0006631 | 86.68 | gold quality |
| cardiac atrium | UBERON:0002081 | 86.67 | gold quality |
| heart | UBERON:0000948 | 86.65 | gold quality |
| leukocyte | CL:0000738 | 86.46 | gold quality |
| small intestine | UBERON:0002108 | 86.27 | gold quality |
| secondary oocyte | CL:0000655 | 86.13 | gold quality |
| putamen | UBERON:0001874 | 85.88 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 85.82 | gold quality |
| deltoid | UBERON:0001476 | 85.66 | silver quality |
| cervix squamous epithelium | UBERON:0006922 | 85.56 | silver quality |
| tibia | UBERON:0000979 | 85.55 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 85.47 | gold quality |
| skin of hip | UBERON:0001554 | 85.44 | gold quality |
| mononuclear cell | CL:0000842 | 85.41 | gold quality |
| seminal vesicle | UBERON:0000998 | 85.40 | gold quality |
| decidua | UBERON:0002450 | 85.40 | gold quality |
| vena cava | UBERON:0004087 | 85.39 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-180759 | yes | 1288.40 |
| E-MTAB-11268 | yes | 1212.49 |
| E-CURD-112 | yes | 478.90 |
| E-CURD-122 | yes | 44.30 |
| E-CURD-119 | yes | 34.54 |
| E-MTAB-6678 | yes | 26.25 |
| E-HCAD-35 | yes | 22.43 |
| E-ANND-3 | yes | 14.75 |
| E-MTAB-9067 | yes | 5.08 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 80 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Nucleus accumbens | tissue | 60.4 | |
| Thymus | tissue | 60.3 | |
| Lymph node | tissue | 51.5 | high |
| Spleen | tissue | 36.1 | medium |
| Tonsil | tissue | 36.1 | high |
| Placenta | tissue | 30.4 | high |
| Lung | tissue | 29.6 | medium |
| Caudate putamen | tissue | 28.0 | |
| Salivary gland | tissue | 26.6 | high |
| Locus coeruleus | tissue | 25.4 | |
| Esophagus | tissue | 24.2 | high |
| Urinary bladder | tissue | 23.7 | medium |
| Bone marrow | tissue | 22.6 | medium |
| Hippocampus | tissue | 22.3 | medium |
| Thalamus | tissue | 22.1 | |
| Vagina | tissue | 21.0 | medium |
| Appendix | tissue | 20.7 | high |
| Breast | tissue | 19.9 | medium |
| Thyroid gland | tissue | 19.8 | high |
| Basal ganglia | tissue | 19.6 | low |
| Cervix | tissue | 19.4 | high |
| Adipose tissue | tissue | 19.3 | not detected |
| Choroid plexus | tissue | 18.5 | |
| Gallbladder | tissue | 18.5 | high |
| Putamen | tissue | 18.3 | |
| Midbrain | tissue | 18.1 | |
| Heart muscle | tissue | 17.4 | high |
| Superior colliculi | tissue | 17.4 | |
| Tongue | tissue | 17.0 | |
| Smooth muscle | tissue | 16.9 | medium |
| Skin 1 | tissue | 16.7 | high |
| Pons | tissue | 15.3 | |
| Postcentral gyrus | tissue | 15.1 | |
| Prostate | tissue | 14.8 | low |
| Pituitary gland | tissue | 14.7 | |
| Endometrium 1 | tissue | 13.6 | medium |
| Skeletal muscle | tissue | 13.4 | medium |
| Ventral forebrain | tissue | 13.3 | |
| Parathyroid gland | tissue | 12.8 | high |
| Small intestine | tissue | 11.7 | high |
| Fallopian tube | tissue | 11.4 | medium |
| Seminal vesicle | tissue | 10.8 | medium |
| Epididymis | tissue | 10.3 | medium |
| Liver | tissue | 9.6 | medium |
| Stomach 1 | tissue | 8.9 | high |
| Duodenum | tissue | 8.9 | high |
| Kidney | tissue | 8.4 | high |
| Septum | tissue | 8.4 | |
| Rectum | tissue | 8.3 | high |
| Colon | tissue | 8.0 | high |
| Testis | tissue | 6.9 | medium |
| Ovary | tissue | 6.9 | low |
| Pancreas | tissue | 6.8 | medium |
| Spinal cord | tissue | 6.2 | |
| Substantia nigra | tissue | 5.6 | |
| Adrenal gland | tissue | 5.6 | medium |
| Cerebral cortex | tissue | 4.4 | medium |
| Motor cortex | tissue | 4.4 | |
| Medulla oblongata | tissue | 4.4 | |
| Hippocampal formation | tissue | 4.2 |
Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Posterior thalamic nucleus (61.8), Ventral posteromedial thalamic nucleus (60.9), Nucleus rhomboideus (56.9), Ventral posterolateral thalamic nucleus (54.5), Habenula (52.5).
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI1, PITX2, STAT3
miRNA regulators (miRDB)
Targeting PRKCH by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 58 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-187-5P | 99.74 | 70.26 | 1404 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-548AV-3P | 99.43 | 68.50 | 1721 |
| HSA-MIR-6080 | 99.43 | 69.43 | 373 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
Functional genomics
gnomAD constraint: pLI 0.997, LOEUF 0.467, missense Z 2.4 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000332981 splits into 5 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 14:61,322,102–61,450,847 | 246 / 308.0 | 0.80 | no |
| 14:61,450,848–61,450,945 | 15 / 40.7 | 0.37 | no |
| 14:61,450,946–61,485,627 | 238 / 258.1 | 0.92 | no |
| 14:61,485,628–61,547,832 | 115 / 193.8 | 0.59 | no |
| 14:61,547,833–61,549,828 | 91 / 81.2 | 1.12 | no |
Literature-anchored findings (GeneRIF, showing 40)
- that PKC eta negatively regulates UV-induced apoptosis through its localization, resistance to cleavage, and the p38 MAPK pathway (PMID:12646210)
- The novel varepsilon and eta and atypical zeta, but not the conventional alpha and beta and the novel delta PKCs, may be involved in the signaling pathways involved in thrombin-induced human platelet P-selectin expression (PMID:12783114)
- Minute virus of mice infection causes accumulation of endogenous PKCeta in the nuclear periphery and regulaties this NS1 regulating kinase, thus underlining the tight interconnection between PKC-mediated signaling and the parvoviral life cycle (PMID:12829844)
- The major result is a clear correlation of PKC eta expression with tumor progression in renal cell carcinoma. (PMID:14666709)
- There was expression of protein kinase C eta in abnormal muscle fibers. Protein kinase C isoforms may play a role in the pathogenesis of myofibrillar myopathy. (PMID:15159477)
- PKC-eta targets the Akt and mTOR signaling pathways (PMID:15489897)
- These studies demonstrate translocation of PKCeta to the nuclear envelope, and suggest that the spatial regulation of PKCeta could be important for its cellular functions including effects on cell cycle control and involvement in tumor promotion. (PMID:16242915)
- PKC-eta-mediated glioblastoma proliferation involves MEK/mitogen-activated protein (MAP) kinase phosphorylation, activation of ERK and subsequently of Elk-1. (PMID:17146445)
- Our results provide evidence of the involvement of PRKCH as a susceptibility gene for rheumatoid arthritis in the Japanese population (PMID:17195206)
- We report that a nonsynonymous SNP in PRKCH increases the risk of cerebral infarction in the general Japanese population. We also found that PKCeta was expressed in vascular endothelial cells and foamy macrophages in human atherosclerotic lesions. (PMID:17206144)
- Fission of transport carriers at the trans-Golgi network is dependent on specifically PLCbeta3, which is necessary to activate PKCeta and PKD in that Golgi compartment, via diacylglycerol production. (PMID:17492941)
- PKCeta functions as an anti-apoptotic protein in Hodgkin’s lymphoma-derived cell lines (PMID:17786031)
- PRKCH mRNA was expressed at lower level in rheumatoid arthritis unrelated patients than in healthy controls, and is not a rheumatoid arthritis major susceptibility genetic factor in the French Caucasian population. (PMID:17957454)
- PRKCH gene polymorphisms have a role in subcortical silent brain infarction (PMID:18164711)
- Results establish PKCeta as a unique element in interferon signaling that plays a key and essential role in the generation of the regulatory effects of type I IFNs on normal and leukemic hematopoiesis. (PMID:19211565)
- nPKCeta positively regulates agonist-induced thromboxane generation with no effects on platelet aggregation. (PMID:19286657)
- The 1425G/A SNP in PRKCH increases the risk of both ischemic stroke and cerebral hemorrhage in the Chinese population. (PMID:19520989)
- Data show that PKCeta is an anti-apoptotic protein, acting as a negative regulator of JNK activity. (PMID:19523467)
- These results suggest that swiprosin-1 is a PKC-beta I/eta-inducible gene and it modulates mast cell activation through NF-kappaB-dependent pathway. (PMID:19693767)
- Translational regulation could provide an additional level for controlling the expression of PKC family members. (PMID:19797084)
- Reduced expression of PKCeta may represent a molecular lesion in the development of more aggressive disease of human hepatocellular carcinoma. (PMID:20001341)
- These findings suggest that inverse effects of PKCdelta and PKCeta on loricrin expression attributes to the expression of c-Jun and JunD. (PMID:20184865)
- Three different isotypes of protein kinase C, i.e. PKC-alpha, PKC-eta and PKC-theta, were found to be regulated and translocated in opposite directions upon apoptosis induction. (PMID:20486122)
- the AA genotype of PRKCH, relative to the G/G genotype, may be a higher risk genotype for severe gastric atrophy (PMID:20602195)
- Catalytic activity of protein kinase C eta (PKCeta) is not necessary for enlarged and flattened morphology of differentiated human keratinocytes, although it is important for gene expression of the marker proteins. (PMID:21346190)
- A remarkable association of minor alleles (1425G/A and _15) in the PRKCH gene with an elevated risk of coronary artery disease and increased levels of LDL-C in a Chinese population. (PMID:21625852)
- In the present study, a significant association between the PRKCH 1425G/A polymorphism and SSNHL risk was observed through a nested case-control analysis within the population-based study. (PMID:21756056)
- study suggests that PKCeta is involved in NF-kappaB signaling leading to drug resistance. (PMID:21820409)
- The present meta-analyses suggested that 1425G/A SNP in PRKCH was associated with ischemic stroke, particularly lacunar infarction, in Chinese and Japanese populations. (PMID:22044875)
- study demonstrates that type V collagen induces the down-regulation of protein kinase C eta (PMID:22213077)
- It was shown that the PKCeta isoform is a negative regulator of the AKT signaling pathway. The IGF-I induced phosphorylation on Ser473 of AKT was inhibited by the PKCeta-induced expression in MCF-7 breast adenocarcinoma cancer cells. (PMID:22305966)
- There was loss of the negative correlation in the expression levels of CD3eta and FcepsilonRIgamma genes in CLL patients. (PMID:22664044)
- The single nucleotide polymorphism (rs2230500) in PRKCH decreases the risk of carotid intima-media thickness. (PMID:22808203)
- these results suggest that the regulation of PKCeta is unique and PKCepsilon is required for the PKC activator-induced upregulation of PKCeta. (PMID:22892130)
- Protein kinase Ceta 1425G/A variant was not a risk locus for deep intracerebral hemorrhage phenotype. (PMID:22999931)
- Upregulation of PKCeta contributes to breast cancer cell growth and targeting either PKCepsilon or PDK1 triggers PKCeta downregulation (PMID:23562764)
- the PKC family genes may play a role in the pathogenesis of MS relapse through modulating the association between 25(OH)D and relapse. (PMID:23868949)
- The 1425G/A polymorphism in PRKCH is not a significant predictor of stroke recurrence in patients with acute ischemic stroke during a 2-year follow-up period. (PMID:24534126)
- These results suggest that siRNA-mediated silencing of PKCeta can be a potent tool to complement existing chemotherapy regimens for treating EBV(+) B lymphoma. (PMID:24784886)
- PKC-eta associates with NHE3 and gamma tubulin to promote the cell polarity during migration. (PMID:24788043)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | prkcha | ENSDARG00000018382 |
| danio_rerio | prkchb | ENSDARG00000043243 |
| mus_musculus | Prkch | ENSMUSG00000021108 |
| rattus_norvegicus | Prkch | ENSRNOG00000004873 |
| drosophila_melanogaster | Pkc53E | FBGN0003091 |
| drosophila_melanogaster | inaC | FBGN0004784 |
| drosophila_melanogaster | Pkn | FBGN0020621 |
| drosophila_melanogaster | Pkcdelta | FBGN0287828 |
| caenorhabditis_elegans | WBGENE00004033 | |
| caenorhabditis_elegans | WBGENE00006599 | |
| caenorhabditis_elegans | WBGENE00009793 |
Paralogs (9): PKN2 (ENSG00000065243), PRKCZ (ENSG00000067606), PKN1 (ENSG00000123143), PRKCG (ENSG00000126583), PRKCA (ENSG00000154229), PKN3 (ENSG00000160447), PRKCI (ENSG00000163558), PRKCB (ENSG00000166501), PRKCE (ENSG00000171132)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:97600) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 33 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| enlarged lymph nodes | 1 |
| epidermal hyperplasia | 1 |
| decreased body weight | 1 |
| impaired wound healing | 1 |
| thymus hypoplasia | 1 |
| increased skin papilloma incidence | 1 |
| abnormal lymph node morphology | 1 |
| abnormal cervical lymph node morphology | 1 |
| abnormal effector T cell morphology | 1 |
| delayed wound healing | 1 |
| abnormal eyelid aperture | 1 |
| increased lean body mass | 1 |
| increased incidence of tumors by chemical induction | 1 |
| increased B cell number | 1 |
| increased T cell number | 1 |
| decreased lymphocyte cell number | 1 |
| decreased B cell number | 1 |
| decreased T cell number | 1 |
| decreased double-positive T cell number | 1 |
| decreased T cell proliferation | 1 |
| abnormal brachial lymph node morphology | 1 |
| increased memory T cell number | 1 |
| increased CD4-positive, alpha-beta T cell number | 1 |
| decreased CD4-positive, alpha-beta T cell number | 1 |
| increased CD8-positive, alpha-beta T cell number | 1 |
+8 more (showing top 25).
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| HIF1A-AS2 | ncRNA | 100750247 |
| LINC01303 | ncRNA | 101927780 |
| PRKCH-AS2 | ncRNA | 105370525 |
| HIF1A-AS3 | ncRNA | 105370526 |
| HIF1A | protein-coding | 3091 |
| LINC03033 | ncRNA | 400221 |
| SNAPC1 | protein-coding | 6617 |
| PRKCH-AS1 | ncRNA | 121233923 |
| SLC38A6 | protein-coding | 145389 |
| CDC50B | protein-coding | 161291 |
| MNAT1 | protein-coding | 4331 |
| TRMT5 | protein-coding | 57570 |
| HIF1A-AS1 | ncRNA | 100750246 |
| SYT16 | protein-coding | 83851 |
Protein
Protein identifiers
PRKCH upstream open reading frame 2 — C0HM02 (reviewed: C0HM02, P24723)
Alternative names: Protein uPEP2
All UniProt accessions (13): G3V304, G3V3E7, G3V4G6, G3V4H0, G3V4L3, G3V4Q6, G3V4Q9, G3V4X4, G3V520, G3V5F8, G3V5U5, G3V5Y6, P24723
UniProt curated annotations — full annotation on UniProt →
Function. Product of an upstream open reading frame (ORF) of PRKCH which regulates translation of the downstream protein kinase C eta (PKC-eta) ORF. Functions as a repressive element that maintains low basal levels of PKC-eta in growing cells but enhances its expression during stress conditions induced by amino acid starvation in a EIF2AK4/GCN2-dependent manner. In addition to its role in regulating PKC-eta translation, also inhibits the kinase activity of PKC-eta as well as other protein kinases including PRKCD, PRKCQ and PRKCE but not PRKCA, PRKCG or PRKCZ.
Subunit / interactions. Interacts with protein kinase C eta as well as other protein kinases including PRKCD, PRKCQ and PRKCE but not with PRKCG or PRKCZ; the interactions lead to inhibition of kinase activity.
Miscellaneous. Suppresses proliferation and migration of cancer cells.
RefSeq proteins (1): NP_006246* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR054137 | PRKCH_uORF2 | Family |
| IPR000008 | C2_dom | Domain |
| IPR000719 | Prot_kinase_dom | Domain |
| IPR000961 | AGC-kinase_C | Domain |
| IPR002219 | PKC_DAG/PE | Domain |
| IPR008271 | Ser/Thr_kinase_AS | Active_site |
| IPR011009 | Kinase-like_dom_sf | Homologous_superfamily |
| IPR014376 | Prot_kin_PKC_delta | Family |
| IPR017441 | Protein_kinase_ATP_BS | Binding_site |
| IPR017892 | Pkinase_C | Domain |
| IPR020454 | DAG/PE-bd | Domain |
| IPR027431 | PKC_eta | Family |
| IPR034665 | nPKC_eta | Domain |
| IPR035892 | C2_domain_sf | Homologous_superfamily |
| IPR046349 | C1-like_sf | Homologous_superfamily |
Pfam: PF00069, PF00130, PF00168, PF00433, PF21952
Enzyme classification (BRENDA)
- EC 2.7.11.13 — protein kinase C (BRENDA: 25 organisms, 203 substrates, 258 inhibitors, 20 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| FKKQGSFAKKK | 0.0166–0.0599 | 10 |
| ATP | 0.0001–0.0828 | 4 |
| N6-PHENYL-ATP | 0.0124 | 1 |
| S6-(229-239) PEPTIDE | 0.0036 | 1 |
Catalyzed reactions (Rhea)
- L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
- L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)
UniProt features (82 total): helix 24, strand 19, sequence variant 10, modified residue 6, sequence conflict 5, turn 5, domain 3, chain 2, zinc finger region 2, binding site 2, mutagenesis site 1, splice variant 1, region of interest 1, active site 1
Structure
Experimental structures (PDB)
4 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 2FK9 | Human protein kinase C, eta | X-RAY DIFFRACTION | 1.75 |
| 8FP1 | PKCeta kinase domain in complex with compound 2 | X-RAY DIFFRACTION | 1.85 |
| 3TXO | PKC eta kinase in complex with a naphthyridine | X-RAY DIFFRACTION | 2.05 |
| 8FP3 | PKCeta kinase domain in complex with compound 11 | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-C0HM02-F1 | 67.75 | 0.00 |
| AF-P24723-F1 | 81.85 | 0.48 |
Human Protein Atlas
Protein class: Enzymes, ENZYME proteins, Transferases, Kinases, AGC Ser/Thr protein kinases, Predicted intracellular proteins, Cancer-related genes, Candidate cancer biomarkers, Disease related genes, Potential drug targets
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): cytosol; plasma membrane
Antibody reliability (HPA): IH approved · IF approved
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1) — C0HM02 (canonical)
| Position | Phenotype |
|---|---|
| 6 | abolishes kinase inhibitor activity and converts peptide to a substrate for prkch and prkce but not for prkca. |
Catalytic / active sites (1) — P24723
| Position | Role |
|---|---|
| 479 | proton acceptor |
Ligand- & substrate-binding residues (2) — P24723
| Position | Role |
|---|---|
| 361–369 | ATP |
| 384 | ATP |
Post-translational modifications (6) — P24723
| Type | Positions |
|---|---|
| Phosphoserine | 28, 32, 317, 675 |
| Phosphothreonine | 513, 656 |
Function
Pathways and Gene Ontology
Reactome pathways
1 curated (TAS) of 8; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
8 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-114508 | Effects of PIP2 hydrolysis | curated |
| R-HSA-416476 | G alpha (q) signalling events | — |
| R-HSA-418597 | G alpha (z) signalling events | electronic |
| R-HSA-388396 | GPCR downstream signalling | — |
| R-HSA-109582 | Hemostasis | — |
| R-HSA-76002 | Platelet activation, signaling and aggregation | — |
| R-HSA-162582 | Signal Transduction | — |
| R-HSA-372790 | Signaling by GPCR | — |
MSigDB gene sets: 475 (showing top):
GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_B_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_EPITHELIUM_DEVELOPMENT, FREAC2_01, BENPORATH_ES_WITH_H3K27ME3, GOBP_REGULATION_OF_TRANSLATION_IN_RESPONSE_TO_STRESS, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_POSITIVE_REGULATION_OF_KERATINOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, PEREZ_TP63_TARGETS, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS, SP3_Q3, MODULE_64
GO Biological Process (15): negative regulation of translation (GO:0017148), positive regulation of translation in response to stress (GO:0032056), cellular response to amino acid starvation (GO:0034198), protein phosphorylation (GO:0006468), signal transduction (GO:0007165), positive regulation of macrophage derived foam cell differentiation (GO:0010744), cell differentiation (GO:0030154), negative regulation of glial cell apoptotic process (GO:0034351), intracellular signal transduction (GO:0035556), positive regulation of keratinocyte differentiation (GO:0045618), positive regulation of B cell receptor signaling pathway (GO:0050861), positive regulation of glial cell proliferation (GO:0060252), phospholipase C/protein kinase C signal transduction (GO:0141212), positive regulation of protein localization to plasma membrane (GO:1903078), regulation of bicellular tight junction assembly (GO:2000810)
GO Molecular Function (17): protein serine/threonine kinase inhibitor activity (GO:0030291), translation regulator activity (GO:0045182), protein serine/threonine kinase binding (GO:0120283), protein kinase activity (GO:0004672), protein serine/threonine kinase activity (GO:0004674), diacylglycerol-dependent serine/threonine kinase activity (GO:0004697), diacylglycerol-dependent, calcium-independent serine/threonine kinase activity (GO:0004699), ATP binding (GO:0005524), zinc ion binding (GO:0008270), enzyme binding (GO:0019899), small GTPase binding (GO:0031267), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (6): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), extracellular exosome (GO:0070062), sarcolemma (GO:0042383)
Reactome top-level categories
6 top-level categories:
| Category | Pathways |
|---|---|
| GPCR downstream signalling | 2 |
| G alpha (q) signalling events | 1 |
| Platelet activation, signaling and aggregation | 1 |
| Signal Transduction | 1 |
| Signaling by GPCR | 1 |
| Hemostasis | 1 |
GO top-level categories
showing 60 of 71 GO namespaces:
| Category | Terms |
|---|---|
| translation | 2 |
| regulation of translation | 2 |
| intracellular anatomical structure | 2 |
| protein serine/threonine kinase activity | 2 |
| protein kinase activity | 2 |
| cellular anatomical structure | 2 |
| negative regulation of gene expression | 1 |
| negative regulation of protein metabolic process | 1 |
| cellular response to stress | 1 |
| regulation of translation in response to stress | 1 |
| positive regulation of translation | 1 |
| cellular response to starvation | 1 |
| response to amino acid starvation | 1 |
| phosphorylation | 1 |
| protein modification process | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| macrophage derived foam cell differentiation | 1 |
| regulation of macrophage derived foam cell differentiation | 1 |
| positive regulation of cell differentiation | 1 |
| cellular developmental process | 1 |
| glial cell apoptotic process | 1 |
| regulation of glial cell apoptotic process | 1 |
| negative regulation of apoptotic process | 1 |
| signal transduction | 1 |
| keratinocyte differentiation | 1 |
| positive regulation of epidermal cell differentiation | 1 |
| regulation of keratinocyte differentiation | 1 |
| positive regulation of multicellular organismal process | 1 |
| B cell receptor signaling pathway | 1 |
| regulation of B cell receptor signaling pathway | 1 |
| positive regulation of antigen receptor-mediated signaling pathway | 1 |
| positive regulation of cell population proliferation | 1 |
| glial cell proliferation | 1 |
| positive regulation of gliogenesis | 1 |
| regulation of glial cell proliferation | 1 |
| intracellular signaling cassette | 1 |
| protein localization to plasma membrane | 1 |
| regulation of protein localization to plasma membrane | 1 |
| positive regulation of protein localization to cell periphery | 1 |
| positive regulation of protein localization to membrane | 1 |
| bicellular tight junction assembly | 1 |
| regulation of cell junction assembly | 1 |
| protein kinase inhibitor activity | 1 |
| molecular_function | 1 |
| protein kinase binding | 1 |
| kinase activity | 1 |
| phosphotransferase activity, alcohol group as acceptor | 1 |
| catalytic activity, acting on a protein | 1 |
| diacylglycerol-dependent serine/threonine kinase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| anion binding | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| GTPase binding | 1 |
| nucleoside phosphate binding | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 16 of 38 annotations. The rest are phylogenetic / computational / electronic (IEA).
16 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| cellular response to amino acid starvation | BP | direct assay |
| negative regulation of glial cell apoptotic process | BP | mutant phenotype |
| negative regulation of translation | BP | direct assay |
| positive regulation of B cell receptor signaling pathway | BP | mutant phenotype |
| positive regulation of glial cell proliferation | BP | mutant phenotype |
| positive regulation of translation in response to stress | BP | direct assay |
| protein phosphorylation | BP | mutant phenotype |
| regulation of bicellular tight junction assembly | BP | mutant phenotype |
| cytoplasm | CC | direct assay |
| extracellular exosome | CC | high-throughput assay |
| plasma membrane | CC | direct assay |
| enzyme binding | MF | physical interaction |
| protein kinase activity | MF | direct assay |
| protein serine/threonine kinase binding | MF | physical interaction |
| protein serine/threonine kinase inhibitor activity | MF | direct assay |
| translation regulator activity | MF | direct assay |
Disease & clinical
Genetic variants
Variant evidence for PRKCH: 156 ClinVar records (0 pathogenic / likely pathogenic); 11 GWAS associations.
ClinVar
156 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 137 |
| Likely benign | 2 |
| Benign | 1 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 35 predictions of 1,347):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 14:61391223–61391224 | acceptor_loss | 1.0000 | 5 |
| 14:61391289–61391290 | donor_loss | 1.0000 | 5 |
| 14:61443103–61443104 | acceptor_gain | 1.0000 | 2 |
| 14:61443108 | acceptor_gain | 1.0000 | |
| 14:61443109–61443110 | acceptor_loss | 1.0000 | 5 |
| 14:61443262–61443263 | donor_loss | 1.0000 | 5 |
| 14:61453224–61453225 | acceptor_loss | 1.0000 | 5 |
| 14:61457306 | donor_gain | 1.0000 | |
| 14:61457320–61457321 | donor_loss | 1.0000 | 5 |
| 14:61457498 | acceptor_gain | 1.0000 |
AlphaMissense
2,459 missense substitutions predicted likely pathogenic (of 4,553 scored), across 482 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| M500 | 9 | 0.992 | 1.000 |
| M442 | 9 | 0.990 | 1.000 |
| M547 | 9 | 0.976 | 1.000 |
| M433 | 9 | 0.973 | 0.999 |
| M175 | 9 | 0.892 | 0.984 |
| D479 | 8 | 1.000 | 1.000 |
| D483 | 8 | 1.000 | 1.000 |
| D497 | 8 | 1.000 | 1.000 |
| H172 | 8 | 0.999 | 1.000 |
| D440 | 8 | 0.999 | 1.000 |
| N484 | 8 | 0.999 | 1.000 |
| D536 | 8 | 0.999 | 1.000 |
| H211 | 8 | 0.998 | 0.999 |
| H284 | 8 | 0.998 | 1.000 |
| D396 | 8 | 0.998 | 1.000 |
| F514 | 8 | 0.997 | 1.000 |
| D519 | 8 | 0.997 | 0.999 |
| H246 | 8 | 0.996 | 1.000 |
| F366 | 8 | 0.996 | 1.000 |
| F648 | 8 | 0.996 | 1.000 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
1 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 1.11e-06 |
Disease associations
OMIM: gene MIM:605437 | disease phenotypes:
GWAS associations
11 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST001957_4 | Obesity (early onset extreme) | 3e-10 |
| GCST005011_2 | Yeast infection | 3e-10 |
| GCST002318_62 | Rheumatoid arthritis | 2e-9 |
| GCST002318_63 | Rheumatoid arthritis | 4e-9 |
| GCST010043_27 | Asthma | 2e-8 |
| GCST006959_181 | Rheumatoid arthritis | 1e-7 |
| GCST006959_9 | Rheumatoid arthritis | 1e-7 |
| GCST001454_12 | Rheumatoid arthritis | 4e-7 |
| GCST002060_5 | Word reading | 3e-6 |
| GCST002062_5 | Reading and spelling | 6e-6 |
| GCST008163_590 | Height | 9e-6 |
EFO canonical traits (from GWAS)
3 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0005300 | word reading |
| EFO:0005301 | reading and spelling ability |
| EFO:0008412 | susceptibility to vaginal yeast infection measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
66 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 8 |
| bisphenol A | affects cotreatment, increases methylation, decreases expression, decreases methylation | 3 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| bisphenol S | affects cotreatment, decreases methylation, increases expression | 2 |
| Vorinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tunicamycin | decreases expression | 2 |
| Thapsigargin | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| mivebresib | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| coumarin | decreases phosphorylation | 1 |
| 1-nitropyrene | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| beta-hydroxy simvastatin acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 300 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00077805 | Phase 4 | COMPLETED | PREVAIL: PREvention of VTE After Acute Ischemic Stroke With LMWH Enoxaparin ( - VTE: Venous Thromboembolism - LMWH: Low Molecular Weight Heparin) |
| NCT00328640 | Phase 4 | COMPLETED | Quality Improvement in Stroke Prevention (QUISP) |
| NCT00697151 | Phase 4 | COMPLETED | Patent Foramen Ovale in Cryptogenic Stroke Study |
| NCT00747279 | Phase 4 | UNKNOWN | Comparison of Two Strategies for Glycemic Control in Acute Ischemic Stroke |
| NCT00754429 | Phase 4 | COMPLETED | The Effect of Losartan Versus Amlodipine-based Therapy in Ischemic Stroke (0954-338)(COMPLETED) |
| NCT00868283 | Phase 4 | COMPLETED | The Safety and Efficacy of Cerebrolysin in Patients With Acute Ischemic Stroke |
| NCT00874601 | Phase 4 | UNKNOWN | Valsartan Efficacy on Modest Blood Pressure Reduction in Acute Ischemic Stroke |
| NCT00931788 | Phase 4 | COMPLETED | Preventing Recurrent Vascular Events in Patients With Stroke or Transient Ischemic Attack |
| NCT00966316 | Phase 4 | COMPLETED | Establishment and Evaluation to the Effects of a Clinical Pathway for Acute Ischemic Stroke |
| NCT01088672 | Phase 4 | COMPLETED | Thrombectomy REvascularization of Large Vessel Occlusions in Acute Ischemic Stroke (TREVO) |
| NCT01097967 | Phase 4 | UNKNOWN | Sleep Disordered Breathing in Transient Ischemic Attack (TIA)/Ischemic Stroke and Continuous Positive Airway Pressure (CPAP) Treatment Efficacy |
| NCT01109836 | Phase 4 | COMPLETED | Austrian Polyintervention Study to Prevent Cognitive Decline After Ischemic Stroke |
| NCT01188824 | Phase 4 | COMPLETED | The Safety and Efficacy of Cilostazol in Ischemic Stroke Patients With Peripheral Arterial Disease (SPAD Study) |
| NCT01429350 | Phase 4 | COMPLETED | Assess the Penumbra System in the Treatment of Acute Stroke |
| NCT01463878 | Phase 4 | TERMINATED | Enteral Nutrition and Glycemic Variability Neurological Intensive Care Unit Study |
| NCT01758536 | Phase 4 | UNKNOWN | Efficacy Study of Huatuo Zaizao Pills in Improving of Neural Function in Acute Ischemic Stroke |
| NCT01762163 | Phase 4 | COMPLETED | Efficacy and Safety of Qizhitongluo Capsule in the Recovery Phase of Ischemic Stroke |
| NCT01862978 | Phase 4 | UNKNOWN | Safety and Efficacy of Heparin and Nadroparin in the Acute Phase of Ischemic Stroke |
| NCT01863277 | Phase 4 | UNKNOWN | Safety Study of Melatonin in Stroke Patients |
| NCT01919671 | Phase 4 | COMPLETED | Tongxinluo Capsule in Ischemic Stroke Patients(TISS) |
| NCT01958957 | Phase 4 | COMPLETED | A Safety Study of Ginkgolides Meglumine Injection in the Treatment of Ischemic Stroke. |
| NCT02046031 | Phase 4 | COMPLETED | Preliminary Study of Pharmacokinetics of Ginkgolides Meglumine Injection. |
| NCT02122718 | Phase 4 | COMPLETED | XILO-FIST, the Effect of Allopurinol on the Brain Heart and Blood Pressure After Stroke |
| NCT02225834 | Phase 4 | COMPLETED | Atorvastatin in Acute Stroke Treatment |
| NCT02334969 | Phase 4 | COMPLETED | Curative Efficacy of Secondary Prevention for Patients With Ischemic Stroke Through Syndrome Differentiation of TCM |
| NCT02403349 | Phase 4 | UNKNOWN | Comparison of Peripheral and Cerebral Arterial Flow in Acute Ischemic Stroke: Fimasartan vs. Valsartan vs. Atenolol |
| NCT02549846 | Phase 4 | COMPLETED | AdminiStration of Statin On Acute Ischemic stRoke patienT Trial |
| NCT02581371 | Phase 4 | UNKNOWN | Comprehensive Reparative Therapy in Ischemic Stroke COMplex Repair in Ischemic Stroke-Arm |
| NCT02728180 | Phase 4 | UNKNOWN | Xingnaojing for Moderate-to-severe Acute Ischemic Stroke (XMAS) |
| NCT02983214 | Phase 4 | COMPLETED | Diabetic Artery Obstruction: is it Possible to Reduce Ischemic Events With Cilostazol? |
| NCT03062319 | Phase 4 | TERMINATED | Optimal Antithrombotic Therapy in Ischemic Stroke Patients with Non-Valvular Atrial Fibrillation and Atherothrombosis |
| NCT03116269 | Phase 4 | COMPLETED | The Effect of Cilostazol Compared to Aspirin on Endothelial Function in Acute Cerebral Ischemia Patients |
| NCT03385538 | Phase 4 | COMPLETED | Clopidogrel Response and CYP2C19 Genotype in Ischemic Stroke Patients |
| NCT03413202 | Phase 4 | COMPLETED | Effectiveness of Butylphthalide on Dynamic Cerebral Autoregulation in Patients With Acute Ischemic Stroke. |
| NCT03431909 | Phase 4 | COMPLETED | Evaluation Of HUK in Acute Stroke Patients: MRS and CTP |
| NCT03494530 | Phase 4 | COMPLETED | Lixiana Acute Stroke Evaluation Registry |
| NCT03529149 | Phase 4 | UNKNOWN | TCD Monitoring Technology Guides the Precise Control of Blood Pressure After EVT |
| NCT03686163 | Phase 4 | COMPLETED | Effects of Intranasal Nerve Growth Factor for Acute Ischemic Stroke |
| NCT03871517 | Phase 4 | COMPLETED | INdobufen Versus aSpirin in acUte Ischemic stRokE,INSURE |
| NCT04150835 | Phase 4 | UNKNOWN | Xingnaojing for Mild-to-severe Acute Ischemic Stroke |
| NCT04199455 | Phase 4 | UNKNOWN | Evidence-based Evaluation of TCM Key Syndrome Differentiation and Treatment for Acute Ischemic Stroke |
| NCT04205305 | Phase 4 | COMPLETED | Outcome in Patients Treated with Intraarterial Thrombectomy - OptiMAL Blood Pressure Control (OPTIMAL-BP) |
| NCT04386525 | Phase 4 | UNKNOWN | Omega 3 and Ischemic Stroke; Fish Oil as an Option |
| NCT04415164 | Phase 4 | UNKNOWN | Evaluation of Xueshuantong in Patients With AcutE IschemiC STroke |
| NCT04504864 | Phase 4 | UNKNOWN | Low-dose Aspirin Therapy in Patients With Ischemic Stroke and Microbleeds |
| NCT04573777 | Phase 4 | TERMINATED | Reducing Intracranial atheroSclErosis With Repatha |
| NCT04892511 | Phase 4 | UNKNOWN | Hemodynamic Optimization of Cerebral Perfusion After Endovascular Therapy in Patients With Acute Ischemic Stroke |
| NCT04910256 | Phase 4 | COMPLETED | Clinical Study on Huatuo Zaizao Pills for Post-stroke Treatment |
| NCT04916197 | Phase 4 | RECRUITING | Effect of Postoperative Prolonged Sedation With Dexmedetomidine After Successful Reperfusion With EVT on Long-term Prognosis in Patients With AIS (PPDET) |
| NCT04950790 | Phase 4 | UNKNOWN | Study on the Effectiveness and Safety of Shuxinin Injection in the Treatment of Acute Ischemic Stroke |
| NCT05155540 | Phase 4 | COMPLETED | Direct Mechanical Thrombectomy Versus Bridging Therapy |
| NCT05193071 | Phase 4 | COMPLETED | Early Antiplatelet for Minor Stroke Following Thrombolysis (EAST) |
| NCT05225961 | Phase 4 | COMPLETED | ATILA Project: Aspirin Versus Tirofiban in Endovascular Treatment for Patients With Acute Ischemic Stroke Due to Tandem Lesion |
| NCT05231694 | Phase 4 | UNKNOWN | The Impact of Electroacupuncture Combined With NGF on Clinical Effect and Functional Changes on Ischemic Stroke |
| NCT05426304 | Phase 4 | UNKNOWN | Prophylactic Effects of Agomelatine for Poststroke Depression |
| NCT05445895 | Phase 4 | COMPLETED | A Study to Evaluate the Efficacy and Safety of Renexin CR in Patients With Acute Non-cardioembolic Ischemic Stroke |
| NCT05589454 | Phase 4 | NOT_YET_RECRUITING | Intracranial Hemorrhage Risk of Intensive Statin in Acute Ischemic Stroke With Cerebral Microbleeds |
| NCT05752916 | Phase 4 | COMPLETED | Intravenous Thrombolysis With rhTNK-tPA for Acute Non-large Vessel Occlusion in Extended Time Window |
| NCT05910125 | Phase 4 | NOT_YET_RECRUITING | Aspirin Combined With Clopidogrel Versus Intravenous Alteplase for Acute Minor Stroke |
| NCT05912686 | Phase 4 | UNKNOWN | High-Dose Atorvastatin for Vascular Wall Protection in Thrombectomy Patients |
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for PRKCH across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ischemic stroke