Summary ?
GeneID3768
SymbolKCNJ12
SynonymsIRK-2|IRK2|KCNJN1|Kir2.2|Kir2.2v|hIRK|hIRK1|hkir2.2x|kcnj12x
Descriptionpotassium voltage-gated channel subfamily J member 12
ReferenceMIM:602323|HGNC:HGNC:6258|Ensembl:ENSG00000184185|HPRD:09083|Vega:OTTHUMG00000132039
Gene typeprotein-coding
Map location17p11.2
Pascal p-value0.17
Fetal beta-3.314
DMG1 (# studies)
eGeneMyers' cis & trans
SupportEXCITABILITY

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.006 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg268579101721279619KCNJ123.76E-6-0.3910.009DMG:Wockner_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs16829545chr2151977407KCNJ1237682.846E-4trans
rs16955618chr1529937543KCNJ1237682.319E-4trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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 functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005242inward rectifier potassium channel activityIEA-
GO:0005242inward rectifier potassium channel activityTAS7859381 
GO:0005244voltage-gated ion channel activityIEA-
GO:0008200ion channel inhibitor activityTAS8647284 
GO:0015459potassium channel regulator activityTAS8647284 
GO:0030955potassium ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0008015blood circulationNAS7859381 
GO:0008016regulation of heart contractionTAS7859381 
GO:0006811ion transportIEA-
GO:0006813potassium ion transportIEA-
GO:0006813potassium ion transportTAS7859381 |8647284 
GO:0006936muscle contractionTAS7859381 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0016020membraneIEA-
GO:0016021integral to membraneIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ABLIM1ABLIM | DKFZp781D0148 | FLJ14564 | KIAA0059 | LIMAB1 | LIMATIN | MGC1224actin binding LIM protein 1-HPRD,BioGRID15024025 
APBA1D9S411E | MINT1 | X11 | X11A | X11ALPHAamyloid beta (A4) precursor protein-binding, family A, member 1-HPRD,BioGRID14960569 |15024025 
CASKCAGH39 | CMG | FLJ22219 | FLJ31914 | LIN2 | MICPCH | TNRC8calcium/calmodulin-dependent serine protein kinase (MAGUK family)-HPRD,BioGRID14960569 |15024025 
DLG1DKFZp761P0818 | DKFZp781B0426 | DLGH1 | SAP97 | dJ1061C18.1.1 | hdlgdiscs, large homolog 1 (Drosophila)-HPRD,BioGRID5024025 |11181181 
|14960569 
DLG2DKFZp781D1854 | DKFZp781E0954 | FLJ37266 | MGC131811 | PSD-93discs, large homolog 2, chapsyn-110 (Drosophila)-HPRD,BioGRID15024025 
DLG3KIAA1232 | MRX | MRX90 | NE-Dlg | NEDLG | SAP102discs, large homolog 3 (neuroendocrine-dlg, Drosophila)-HPRD,BioGRID15024025 
DLG4FLJ97752 | FLJ98574 | PSD95 | SAP90discs, large homolog 4 (Drosophila)-HPRD,BioGRID15024025 
DMDBMD | CMD3B | DXS142 | DXS164 | DXS206 | DXS230 | DXS239 | DXS268 | DXS269 | DXS270 | DXS272dystrophin-HPRD,BioGRID15024025 
DTNAD18S892E | DRP3 | DTN | FLJ96209 | LVNC1dystrobrevin, alpha-HPRD,BioGRID15024025 
LIN7ALIN-7A | LIN7 | MALS-1 | MGC148143 | TIP-33 | VELI1lin-7 homolog A (C. elegans)-HPRD,BioGRID14960569 |15024025 
LIN7BLIN-7B | MALS-2 | MALS2 | VELI2lin-7 homolog B (C. elegans)Affinity Capture-Western
Reconstituted Complex
BioGRID14960569 |15024025 
LIN7CFLJ11215 | LIN-7-C | LIN-7C | MALS-3 | MALS3 | VELI3lin-7 homolog C (C. elegans)Affinity Capture-MS
Affinity Capture-Western
Reconstituted Complex
BioGRID14960569 |15024025 
MPP6PALS2 | VAM-1 | VAM1 | p55Tmembrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)Affinity Capture-MSBioGRID15024025 
SNTA1SNT1 | TACIP1 | dJ1187J4.5syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)-HPRD,BioGRID15024025 
SNTB159-DAP | A1B | BSYN2 | DAPA1B | FLJ22442 | MGC111389 | SNT2 | SNT2B1 | TIP-43syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)-HPRD,BioGRID15024025 
SNTB2D16S2531E | EST25263 | SNT2B2 | SNT3 | SNTLsyntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)-HPRD,BioGRID15024025 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES 186155All SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM 279221All SZGR 2.0 genes in this pathway
REACTOME NEUROTRANSMITTER RECEPTOR BINDING AND DOWNSTREAM TRANSMISSION IN THE POSTSYNAPTIC CELL 137110All SZGR 2.0 genes in this pathway
REACTOME INHIBITION OF VOLTAGE GATED CA2 CHANNELS VIA GBETA GAMMA SUBUNITS 2517All SZGR 2.0 genes in this pathway
REACTOME GABA B RECEPTOR ACTIVATION 3826All SZGR 2.0 genes in this pathway
REACTOME GABA RECEPTOR ACTIVATION 5240All SZGR 2.0 genes in this pathway
REACTOME POTASSIUM CHANNELS 9868All SZGR 2.0 genes in this pathway
REACTOME INWARDLY RECTIFYING K CHANNELS 3120All SZGR 2.0 genes in this pathway
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL DN 634384All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355243All SZGR 2.0 genes in this pathway
PEREZ TP53 AND TP63 TARGETS 205145All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 40 HELA 4229All SZGR 2.0 genes in this pathway
MCCABE BOUND BY HOXC6 469239All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-124.110211027m8hsa-miR-124aUUAAGGCACGCGGUGAAUGCCA
miR-124/506102010271A,m8hsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-125/351800806m8hsa-miR-125bbrainUCCCUGAGACCCUAACUUGUGA
hsa-miR-125abrainUCCCUGAGACCCUUUAACCUGUG
miR-132/212427433m8hsa-miR-212SZUAACAGUCUCCAGUCACGGCC
hsa-miR-132brainUAACAGUCUACAGCCAUGGUCG
miR-14323562362m8hsa-miR-143brainUGAGAUGAAGCACUGUAGCUCA
miR-14531313137m8hsa-miR-145GUCCAGUUUUCCCAGGAAUCCCUU
miR-2930023008m8hsa-miR-29aSZUAGCACCAUCUGAAAUCGGUU
hsa-miR-29bSZUAGCACCAUUUGAAAUCAGUGUU
hsa-miR-29cSZUAGCACCAUUUGAAAUCGGU
miR-30-5p4304371A,m8hsa-miR-30a-5pUGUAAACAUCCUCGACUGGAAG
hsa-miR-30cbrainUGUAAACAUCCUACACUCUCAGC
hsa-miR-30dSZUGUAAACAUCCCCGACUGGAAG
hsa-miR-30bSZUGUAAACAUCCUACACUCAGCU
hsa-miR-30e-5pUGUAAACAUCCUUGACUGGA