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Gene Report
| Basic information | Related studies | Functional annotation | Related other genetic factors | Overlap with SZ and MDD | ADD to My Gene Set | Comment on Gene | View All Comments on Gene |
| Approved Symbol | PRKCZ |
|---|---|
| Symbol Alias | PKC2 |
| Approved Name | protein kinase C, zeta |
| Location | 1p36.33-p36.2 |
| Position | chr1:2050470-2185395, 1 |
| External Links |
HGNC: 9412 Entrez Gene: 5590 Ensembl: ENSG00000067606 UCSC: uc001aiq.3 |
| No. of Studies | 1 (Positive: 1; Negative: 0; trend: 0) |
| Overlap with SZ? | NO |
| Overlap with MDD? | NO |
Gene related studies (count: 1)
| Reference | Tested Markers | Statistical Values/Author Comments | Result Category | Comment on Study |
|---|---|---|---|---|
| Kandaswamy, R.,2012 | SNP: rs12132341, rs12134873, rs2503706, rs262641, rs262683, rs262688, rs3107146, rs3107156, rs3107157, rs3128296, rs3128309, rs3753242, rs384726, rs385039, rs626479, rs7513222, rs908742 Haplotype: rs3128296 - rs2503706(), rs2503706 - rs3128309(), rs3128296 - rs3128309(), rs3128296 - rs2503706 - rs3128309() Other variant: PRKCZ(AC)24, PRKCZ(GT)17, D1S243, PRKCZ(CA)13 |
In the present study, we show nominally significant associations between genetic markers in the PRKCZ gene and bipolar affective disorder. | Positive | Comment on Study |
Gene functional annotation
Gene related GO terms (count: 73)
GO terms by PBA (count: 7)
| ID | Name | Type | Evidence[PMID] | No. of Genes in BDgene |
|---|---|---|---|---|
| GO:0004672 | protein kinase activity | molecular function | IDA[10770950] | 13 |
| GO:0006954 | inflammatory response | biological process | IEA | 23 |
| GO:0004697 | protein kinase C activity | molecular function | IEA | 2 |
| GO:0016020 | membrane | cellular component | TAS[7925449] | 137 |
| GO:0005886 | plasma membrane | cellular component | TAS[7925449] | 360 |
| GO:0019904 | protein domain specific binding | molecular function | IEA | 24 |
| GO:0004674 | protein serine/threonine kinase activity | molecular function | EXP; IDA[15069075] | 27 |
GO terms by database search (count: 66)
Gene related KEGG pathways (count: 3)
KEGG pathways by PBA (count: 1)
| ID | Name | No. of Genes in BDgene | Brief Description |
|---|---|---|---|
| hsa04530 | Tight junction | 18 |
KEGG pathways by database search (count: 2)
| ID | Name | No. of Genes in BDgene | Brief Description |
|---|---|---|---|
| hsa04930 | Type II diabetes mellitus | 11 | |
| hsa04910 | Insulin signaling pathway | 10 |
Gene related BioCarta pathways (count: 1)
BioCarta pathways by PBA (count: 0)
BioCarta pathways by database search (count: 1)
| ID | Name | No. of Genes in BDgene | Brief Description |
|---|---|---|---|
| ptdinsPathway | Phosphoinositides and their downstream targets. | 6 |
Gene related interactors from protein-protein interactions data in HPRD (count: 64)
| Gene | Interactor | Interactor in BDgene? | Experiment Type | PMID |
|---|---|---|---|---|
| PRKCZ | SRC | NO | in vivo | 10527887 |
| PRKCZ | PDLIM7 | NO | in vitro | 8940095 |
| PRKCZ | CASP8 | NO | in vitro | 11016947 |
| PRKCZ | C1QBP | NO | in vitro;in vivo | 10831594 |
| PRKCZ | PEBP1 | NO | in vitro;in vivo | 14654844 , 12551925 |
| PRKCZ | TRAF6 | NO | in vivo | 10747026 |
| PRKCZ | IL4R | NO | in vitro;in vivo | 15526032 |
| PRKCZ | SLC39A1 | NO | in vivo | 10477520 |
| PRKCZ | GLRX3 | NO | in vitro | 10636891 |
| PRKCZ | FEZ2 | YES | in vivo | 14697253 |
| PRKCZ | FADD | NO | in vivo | 11739185 |
| PRKCZ | ADCY5 | NO | in vitro | 8206971 |
| PRKCZ | JAK1 | YES | in vitro;in vivo | 15526032 |
| PRKCZ | CHAT | YES | in vitro | 15381704 |
| PRKCZ | IRS1 | NO | in vitro;in vivo | 11063744 |
| PRKCZ | PSEN1 | NO | in vitro;in vivo | 14576165 |
| PRKCZ | RAF1 | NO | in vivo | 10620507 |
| PRKCZ | PPP1R14A | NO | in vitro;in vivo | 15003508 |
| PRKCZ | PARD6A | NO | in vitro;in vivo;yeast 2-hybrid | 11260256 , 17335965 , 12813044 |
| PRKCZ | YWHAB | NO | in vitro;in vivo | 10620507 |
| PRKCZ | AKT1 | YES | in vitro;in vivo | 10085094 , 11723139 , 14560023 |
| PRKCZ | DAPK3 | NO | in vitro | 12242277 |
| PRKCZ | GSK3A | NO | in vitro;in vivo | 11481324 |
| PRKCZ | NUMB | YES | in vitro | 17203073 |
| PRKCZ | PRG2 | NO | in vitro | 11222751 , 9748166 , 14500673 , 10357815 |
| PRKCZ | RELA | NO | in vitro;in vivo | 11684013 , 12881425 |
| PRKCZ | BTK | NO | in vitro;in vivo | 11788586 , 7522330 |
| PRKCZ | CDC42 | NO | in vivo | 10733591 |
| PRKCZ | MAP2K5 | NO | in vivo | 11158308 |
| PRKCZ | WWC1 | YES | in vitro;yeast 2-hybrid | 15081397 |
| PRKCZ | CSNK2B | YES | in vitro;in vivo | 10764587 |
| PRKCZ | CASP7 | NO | in vitro | 11016947 |
| PRKCZ | FEZ1 | YES | in vivo;yeast 2-hybrid | 9971736 |
| PRKCZ | SQSTM1 | NO | in vitro;in vivo;yeast 2-hybrid | 9566925 , 10356400 , 12813044 |
| PRKCZ | NFATC2 | NO | in vivo | 12021260 |
| PRKCZ | AKT3 | NO | in vitro;in vivo | 12162751 , 9512493 , 9305920 |
| PRKCZ | PDPK1 | NO | in vitro;in vivo;yeast 2-hybrid | 11781095 , 9748166 , 10764742 , 11222751 , 14500673 , 10357815 |
| PRKCZ | GRB14 | NO | in vivo | 12242277 |
| PRKCZ | AFAP1 | NO | in vitro | 12134071 |
| PRKCZ | PARD6G | NO | in vitro;yeast 2-hybrid | 11260256 |
| PRKCZ | MAPK1 | NO | in vivo | 15721486 |
| PRKCZ | ADAP1 | NO | in vitro | 12893243 |
| PRKCZ | NCL | YES | in vitro;in vivo | 9388266 |
| PRKCZ | PRKCD | NO | in vitro;in vivo | 11381116 , 12162751 |
| PRKCZ | PPP3CA | NO | in vivo | 12021260 |
| PRKCZ | MAPK3 | NO | in vivo | 15721486 |
| PRKCZ | RHOA | NO | in vivo | 15210811 |
| PRKCZ | NCF1 | NO | in vitro | 11145703 , 8089108 |
| PRKCZ | CASP9 | NO | in vitro;in vivo | 16287866 |
| PRKCZ | IKBKB | NO | in vitro | 10195894 , 9689078 , 10779355 , 10022904 |
| PRKCZ | IRAK1 | NO | in vivo | 11937546 |
| PRKCZ | MAP2K1 | NO | in vitro | 11535599 |
| PRKCZ | KRT10 | NO | in vivo | 11585925 |
| PRKCZ | HRAS | NO | in vivo | 15721486 |
| PRKCZ | FRS2 | NO | in vitro;in vivo;yeast 2-hybrid | 10383403 |
| PRKCZ | MBP | YES | in vitro | 10383403 |
| PRKCZ | GRM5 | NO | in vitro | 15894802 |
| PRKCZ | IRS4 | NO | in vitro | 12774026 |
| PRKCZ | STAT6 | NO | in vivo | 15526032 |
| PRKCZ | HABP4 | NO | in vitro;in vivo | 14699138 |
| PRKCZ | CASP6 | NO | in vitro | 11016947 |
| PRKCZ | PRKCA | NO | in vitro;in vivo | 12162751 , 10339425 , 8856079 |
| PRKCZ | CASP3 | NO | in vitro;in vivo | 11016947 |
| PRKCZ | PARD6B | YES | in vitro;in vivo;yeast 2-hybrid | 11260256 |
Related other genetic factors
Gene related SNPs (count: 78)
Literature-origin SNPs (count: 17)
| rs_ID | Location | Functional Annotation | No. of Studies (Positive/Negative/Trend)  |
|---|---|---|---|
| rs3128309 | chr1:2174439 - 2174439(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
| rs626479 | chr1:2178821 - 2178821(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
| rs262641 | chr1:2173542 - 2173542(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
| rs3128296 | chr1:2137467 - 2137467(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(1/0/0) |
| rs3107146 | chr1:2116145 - 2116145(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | 1(0/1/0) |
| rs908742 | chr1:2101817 - 2101817(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | 1(0/1/0) |
| rs385039 | chr1:2145970 - 2145970(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | 1(0/1/0) |
| rs12132341 | chr1:2163093 - 2163093(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
| rs384726 | chr1:2144616 - 2144616(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant | 1(0/1/0) |
| rs3107157 | chr1:2130530 - 2130530(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | 1(0/1/0) |
| rs12134873 | chr1:2160383 - 2160383(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
| rs3753242 | chr1:2138242 - 2138242(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
| rs262688 | chr1:2182126 - 2182126(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant | 1(0/1/0) |
| rs7513222 | chr1:2096462 - 2096462(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | 1(0/1/0) |
| rs262683 | chr1:2224430 - 2224430(1) | downstream_gene_variant; upstream_gene_variant | 1(0/1/0) |
| rs2503706 | chr1:2143812 - 2143812(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant | 1(0/1/0) |
| rs3107156 | chr1:2129191 - 2129191(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | 1(0/1/0) |
LD-proxies (count: 61)
| rs_ID | Literature-origin SNPs with LD | Location | Functional Annotation |
|---|---|---|---|
| rs3128298 | chr1:2140299 - 2140299(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs262672 | chr1:2149374 - 2149374(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs12026349 | chr1:2142665 - 2142665(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs427811 | chr1:2144121 - 2144121(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs425277 | chr1:2137733 - 2137733(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs3128297 | chr1:2138661 - 2138661(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs17372341 | chr1:2110911 - 2110911(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs3123592 | chr1:2156118 - 2156118(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant | |
| rs12410859 | chr1:2107293 - 2107293(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs12094159 | chr1:2160844 - 2160844(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs3107126 | chr1:2150203 - 2150203(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs9442619 | chr1:2151066 - 2151066(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs262687 | chr1:2185716 - 2185716(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs262651 | chr1:2159958 - 2159958(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs262652 | chr1:2159377 - 2159377(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs262654 | chr1:2158087 - 2158087(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs262656 | chr1:2157315 - 2157315(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs262657 | chr1:2157138 - 2157138(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs262661 | chr1:2155206 - 2155206(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs6603813 | chr1:2111641 - 2111641(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs2257684 | chr1:2146433 - 2146433(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs3123595 | chr1:2186119 - 2186119(1) | 3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs1878752 | chr1:2108280 - 2108280(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs3052 | chr1:2165199 - 2165199(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs3128332 | chr1:2105158 - 2105158(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs4648808 | chr1:2109497 - 2109497(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs4648805 | chr1:2109324 - 2109324(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs3128291 | chr1:2126584 - 2126584(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs3128336 | chr1:2111555 - 2111555(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs262653 | chr1:2158656 - 2158656(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs262685 | chr1:2186900 - 2186900(1) | 3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs262663 | chr1:2153159 - 2153159(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs262662 | chr1:2153594 - 2153594(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs377283 | chr1:2144131 - 2144131(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs262669 | chr1:2151050 - 2151050(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs424079 | chr1:2139901 - 2139901(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs451061 | chr1:2143629 - 2143629(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs2460001 | chr1:2179591 - 2179591(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs262684 | chr1:2186920 - 2186920(1) | 3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs3107147 | chr1:2117290 - 2117290(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs3107151 | chr1:2120074 - 2120074(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs3128337 | chr1:2114443 - 2114443(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs3107145 | chr1:2116108 - 2116108(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs925905 | chr1:2112598 - 2112598(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs925906 | chr1:2112615 - 2112615(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs4648807 | chr1:2109459 - 2109459(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs11584491 | chr1:2111104 - 2111104(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs2459984 | chr1:2154873 - 2154873(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs10910029 | chr1:2103940 - 2103940(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs12082939 | chr1:2147483 - 2147483(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs2257182 | chr1:2151127 - 2151127(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs364677 | chr1:2140326 - 2140326(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs2503705 | chr1:2145302 - 2145302(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs262689 | chr1:2181827 - 2181827(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; splice_region_variant | |
| rs2460002 | chr1:2188394 - 2188394(1) | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs2503701 | chr1:2189679 - 2189679(1) | 3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant | |
| rs10752742 | chr1:2104538 - 2104538(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs10752741 | chr1:2104360 - 2104360(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs16824792 | chr1:2108082 - 2108082(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant | |
| rs10797413 | chr1:2104824 - 2104824(1) | 5_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | |
| rs10910030 | chr1:2104245 - 2104245(1) | intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant |
Gene related CNVs (count: 0)
Gene related other variants (count: 4)
| Variant Name | Variant Type | Location in Gene | No. of Studies (Positive/Negative/Trend) |
|---|---|---|---|
| PRKCZ(CA)13 | microsatellite | 1 (0/1/0) | |
| PRKCZ(GT)17 | microsatellite | 1 (0/1/0) | |
| PRKCZ(AC)24 | microsatellite | 1 (0/1/0) | |
| D1S243 | microsatellite | 1 (1/0/0) |
Gene related regions (count: 5)
| Region Name | Position | No. of Studies (Positive/Negative/Trend) |
|---|---|---|
| 1p35-p36 | chr1:0-34300000 | 1 (1/0/0) |
| 1p33-p36 | chr1:0-50200000 | 1 (0/0/1) |
| 1p36 | chr1:0-27600000 | 1 (0/1/0) |
| 1p36.33 | chr1:0-2300000 | 1 (0/0/1) |
| Chr 1 | chr1:0-248956422 | 2 (0/2/0) |
Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
View in gBrowse
Region: chr1:2050470..2185395 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Acknowledgements
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Last update: March 31, 2016