Gene Page: KCNJ12
Summary ?
GeneID | 3768 |
Symbol | KCNJ12 |
Synonyms | IRK-2|IRK2|KCNJN1|Kir2.2|Kir2.2v|hIRK|hIRK1|hkir2.2x|kcnj12x |
Description | potassium voltage-gated channel subfamily J member 12 |
Reference | MIM:602323|HGNC:HGNC:6258|Ensembl:ENSG00000184185|HPRD:09083|Vega:OTTHUMG00000132039 |
Gene type | protein-coding |
Map location | 17p11.2 |
Pascal p-value | 0.17 |
Fetal beta | -3.314 |
DMG | 1 (# studies) |
eGene | Myers' cis & trans |
Support | EXCITABILITY |
Gene in Data Sources
Gene set name | Method of gene set | Description | Info |
---|---|---|---|
CV:PGCnp | Genome-wide Association Study | GWAS | |
DMG:Wockner_2014 | Genome-wide DNA methylation analysis | This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). | 1 |
Network | Shortest path distance of core genes in the Human protein-protein interaction network | Contribution to shortest path in PPI network: 0.006 |
Section I. Genetics and epigenetics annotation
Differentially methylated gene
Probe | Chromosome | Position | Nearest gene | P (dis) | Beta (dis) | FDR (dis) | Study |
---|---|---|---|---|---|---|---|
cg26857910 | 17 | 21279619 | KCNJ12 | 3.76E-6 | -0.391 | 0.009 | DMG:Wockner_2014 |
eQTL annotation
SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
---|---|---|---|---|---|---|---|---|
rs16829545 | chr2 | 151977407 | KCNJ12 | 3768 | 2.846E-4 | trans | ||
rs16955618 | chr15 | 29937543 | KCNJ12 | 3768 | 2.319E-4 | trans |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression during devlopment (BrainCloud)
Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
No co-expressed genes in brain regions
Section III. Gene Ontology annotation
Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
---|---|---|---|---|
GO:0005242 | inward rectifier potassium channel activity | IEA | - | |
GO:0005242 | inward rectifier potassium channel activity | TAS | 7859381 | |
GO:0005244 | voltage-gated ion channel activity | IEA | - | |
GO:0008200 | ion channel inhibitor activity | TAS | 8647284 | |
GO:0015459 | potassium channel regulator activity | TAS | 8647284 | |
GO:0030955 | potassium ion binding | IEA | - | |
Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0008015 | blood circulation | NAS | 7859381 | |
GO:0008016 | regulation of heart contraction | TAS | 7859381 | |
GO:0006811 | ion transport | IEA | - | |
GO:0006813 | potassium ion transport | IEA | - | |
GO:0006813 | potassium ion transport | TAS | 7859381 |8647284 | |
GO:0006936 | muscle contraction | TAS | 7859381 | |
Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0016020 | membrane | IEA | - | |
GO:0016021 | integral to membrane | IEA | - |
Section IV. Protein-protein interaction annotation
Interactors | Aliases B | Official full name B | Experimental | Source | PubMed ID |
---|---|---|---|---|---|
ABLIM1 | ABLIM | DKFZp781D0148 | FLJ14564 | KIAA0059 | LIMAB1 | LIMATIN | MGC1224 | actin binding LIM protein 1 | - | HPRD,BioGRID | 15024025 |
APBA1 | D9S411E | MINT1 | X11 | X11A | X11ALPHA | amyloid beta (A4) precursor protein-binding, family A, member 1 | - | HPRD,BioGRID | 14960569 |15024025 |
CASK | CAGH39 | CMG | FLJ22219 | FLJ31914 | LIN2 | MICPCH | TNRC8 | calcium/calmodulin-dependent serine protein kinase (MAGUK family) | - | HPRD,BioGRID | 14960569 |15024025 |
DLG1 | DKFZp761P0818 | DKFZp781B0426 | DLGH1 | SAP97 | dJ1061C18.1.1 | hdlg | discs, large homolog 1 (Drosophila) | - | HPRD,BioGRID | 5024025 |11181181 |14960569 |
DLG2 | DKFZp781D1854 | DKFZp781E0954 | FLJ37266 | MGC131811 | PSD-93 | discs, large homolog 2, chapsyn-110 (Drosophila) | - | HPRD,BioGRID | 15024025 |
DLG3 | KIAA1232 | MRX | MRX90 | NE-Dlg | NEDLG | SAP102 | discs, large homolog 3 (neuroendocrine-dlg, Drosophila) | - | HPRD,BioGRID | 15024025 |
DLG4 | FLJ97752 | FLJ98574 | PSD95 | SAP90 | discs, large homolog 4 (Drosophila) | - | HPRD,BioGRID | 15024025 |
DMD | BMD | CMD3B | DXS142 | DXS164 | DXS206 | DXS230 | DXS239 | DXS268 | DXS269 | DXS270 | DXS272 | dystrophin | - | HPRD,BioGRID | 15024025 |
DTNA | D18S892E | DRP3 | DTN | FLJ96209 | LVNC1 | dystrobrevin, alpha | - | HPRD,BioGRID | 15024025 |
LIN7A | LIN-7A | LIN7 | MALS-1 | MGC148143 | TIP-33 | VELI1 | lin-7 homolog A (C. elegans) | - | HPRD,BioGRID | 14960569 |15024025 |
LIN7B | LIN-7B | MALS-2 | MALS2 | VELI2 | lin-7 homolog B (C. elegans) | Affinity Capture-Western Reconstituted Complex | BioGRID | 14960569 |15024025 |
LIN7C | FLJ11215 | LIN-7-C | LIN-7C | MALS-3 | MALS3 | VELI3 | lin-7 homolog C (C. elegans) | Affinity Capture-MS Affinity Capture-Western Reconstituted Complex | BioGRID | 14960569 |15024025 |
MPP6 | PALS2 | VAM-1 | VAM1 | p55T | membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) | Affinity Capture-MS | BioGRID | 15024025 |
SNTA1 | SNT1 | TACIP1 | dJ1187J4.5 | syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) | - | HPRD,BioGRID | 15024025 |
SNTB1 | 59-DAP | A1B | BSYN2 | DAPA1B | FLJ22442 | MGC111389 | SNT2 | SNT2B1 | TIP-43 | syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) | - | HPRD,BioGRID | 15024025 |
SNTB2 | D16S2531E | EST25263 | SNT2B2 | SNT3 | SNTL | syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) | - | HPRD,BioGRID | 15024025 |
Section V. Pathway annotation
Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
---|---|---|---|
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES | 186 | 155 | All SZGR 2.0 genes in this pathway |
REACTOME NEURONAL SYSTEM | 279 | 221 | All SZGR 2.0 genes in this pathway |
REACTOME NEUROTRANSMITTER RECEPTOR BINDING AND DOWNSTREAM TRANSMISSION IN THE POSTSYNAPTIC CELL | 137 | 110 | All SZGR 2.0 genes in this pathway |
REACTOME INHIBITION OF VOLTAGE GATED CA2 CHANNELS VIA GBETA GAMMA SUBUNITS | 25 | 17 | All SZGR 2.0 genes in this pathway |
REACTOME GABA B RECEPTOR ACTIVATION | 38 | 26 | All SZGR 2.0 genes in this pathway |
REACTOME GABA RECEPTOR ACTIVATION | 52 | 40 | All SZGR 2.0 genes in this pathway |
REACTOME POTASSIUM CHANNELS | 98 | 68 | All SZGR 2.0 genes in this pathway |
REACTOME INWARDLY RECTIFYING K CHANNELS | 31 | 20 | All SZGR 2.0 genes in this pathway |
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL DN | 634 | 384 | All SZGR 2.0 genes in this pathway |
DODD NASOPHARYNGEAL CARCINOMA UP | 1821 | 933 | All SZGR 2.0 genes in this pathway |
PEREZ TP53 TARGETS | 1174 | 695 | All SZGR 2.0 genes in this pathway |
PEREZ TP63 TARGETS | 355 | 243 | All SZGR 2.0 genes in this pathway |
PEREZ TP53 AND TP63 TARGETS | 205 | 145 | All SZGR 2.0 genes in this pathway |
AMIT EGF RESPONSE 40 HELA | 42 | 29 | All SZGR 2.0 genes in this pathway |
MCCABE BOUND BY HOXC6 | 469 | 239 | All SZGR 2.0 genes in this pathway |
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY | 1725 | 838 | All SZGR 2.0 genes in this pathway |
Section VI. microRNA annotation
miRNA family | Target position | miRNA ID | miRNA seq | ||
---|---|---|---|---|---|
UTR start | UTR end | Match method | |||
miR-124.1 | 1021 | 1027 | m8 | hsa-miR-124a | UUAAGGCACGCGGUGAAUGCCA |
miR-124/506 | 1020 | 1027 | 1A,m8 | hsa-miR-506 | UAAGGCACCCUUCUGAGUAGA |
hsa-miR-124brain | UAAGGCACGCGGUGAAUGCC | ||||
miR-125/351 | 800 | 806 | m8 | hsa-miR-125bbrain | UCCCUGAGACCCUAACUUGUGA |
hsa-miR-125abrain | UCCCUGAGACCCUUUAACCUGUG | ||||
miR-132/212 | 427 | 433 | m8 | hsa-miR-212SZ | UAACAGUCUCCAGUCACGGCC |
hsa-miR-132brain | UAACAGUCUACAGCCAUGGUCG | ||||
miR-143 | 2356 | 2362 | m8 | hsa-miR-143brain | UGAGAUGAAGCACUGUAGCUCA |
miR-145 | 3131 | 3137 | m8 | hsa-miR-145 | GUCCAGUUUUCCCAGGAAUCCCUU |
miR-29 | 3002 | 3008 | m8 | hsa-miR-29aSZ | UAGCACCAUCUGAAAUCGGUU |
hsa-miR-29bSZ | UAGCACCAUUUGAAAUCAGUGUU | ||||
hsa-miR-29cSZ | UAGCACCAUUUGAAAUCGGU | ||||
miR-30-5p | 430 | 437 | 1A,m8 | hsa-miR-30a-5p | UGUAAACAUCCUCGACUGGAAG |
hsa-miR-30cbrain | UGUAAACAUCCUACACUCUCAGC | ||||
hsa-miR-30dSZ | UGUAAACAUCCCCGACUGGAAG | ||||
hsa-miR-30bSZ | UGUAAACAUCCUACACUCAGCU | ||||
hsa-miR-30e-5p | UGUAAACAUCCUUGACUGGA |
- SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
- Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.