KCNJ9

Summary

KCNJ9 (potassium inwardly rectifying channel subfamily J member 9, HGNC:6270) is a protein-coding gene on chromosome 1q23.2, encoding G protein-activated inward rectifier potassium channel 3 (Q92806). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it.

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex.

Source: NCBI Gene 3765 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 31 total
• Druggable target: yes
• MANE Select transcript: NM_004983

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6270
Approved symbol	KCNJ9
Name	potassium inwardly rectifying channel subfamily J member 9
Location	1q23.2
Locus type	gene with protein product
Status	Approved
Aliases	Kir3.3, GIRK3
Ensembl gene	ENSG00000162728
Ensembl biotype	protein_coding
OMIM	600932
Entrez	3765

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000368088, ENST00000864453, ENST00000864454, ENST00000864455, ENST00000864456, ENST00000864457

RefSeq mRNA: 1 — MANE Select: NM_004983 NM_004983

CCDS: CCDS1194

Canonical transcript exons

ENST00000368088 — 3 exons

Exon	Start	End
ENSE00001068017	160081538	160081697
ENSE00001446294	160087486	160090563
ENSE00001446295	160083917	160084880

Expression profiles

Bgee: expression breadth ubiquitous, 103 present calls, max score 97.27.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 5.5429 / max 435.3346, expressed in 127 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6035	5.5429	127

Top tissues by expression

268 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	97.27	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.74	gold quality
primary visual cortex	UBERON:0002436	95.83	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.29	gold quality
cerebellar hemisphere	UBERON:0002245	95.28	gold quality
cerebellar cortex	UBERON:0002129	95.24	gold quality
right frontal lobe	UBERON:0002810	94.72	gold quality
cerebellum	UBERON:0002037	94.09	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.08	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.39	gold quality
superior frontal gyrus	UBERON:0002661	93.30	gold quality
prefrontal cortex	UBERON:0000451	93.29	gold quality
postcentral gyrus	UBERON:0002581	93.05	gold quality
occipital lobe	UBERON:0002021	92.94	gold quality
entorhinal cortex	UBERON:0002728	92.85	gold quality
cingulate cortex	UBERON:0003027	92.23	gold quality
anterior cingulate cortex	UBERON:0009835	92.18	gold quality
parietal lobe	UBERON:0001872	92.14	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.05	gold quality
endothelial cell	CL:0000115	91.74	silver quality
frontal cortex	UBERON:0001870	91.69	gold quality
neocortex	UBERON:0001950	91.37	gold quality
temporal lobe	UBERON:0001871	91.32	gold quality
cerebral cortex	UBERON:0000956	91.31	gold quality
Ammon’s horn	UBERON:0001954	90.88	gold quality
amygdala	UBERON:0001876	90.71	gold quality
telencephalon	UBERON:0001893	90.45	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.37	gold quality
nucleus accumbens	UBERON:0001882	89.70	gold quality
putamen	UBERON:0001874	89.23	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting KCNJ9, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-5094	98.63	67.11	1062
HSA-MIR-767-3P	98.61	67.69	1192
HSA-MIR-6780A-3P	98.42	67.49	1518
HSA-MIR-660-3P	98.14	66.04	1434
HSA-MIR-7111-3P	97.80	66.75	1467
HSA-MIR-6787-3P	97.75	66.17	1233
HSA-MIR-493-3P	97.50	66.44	731
HSA-MIR-1306-5P	97.11	64.04	755
HSA-MIR-8069	97.05	66.79	718
HSA-MIR-6773-5P	97.04	64.30	595
HSA-MIR-346	97.01	66.97	662
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-3974	96.56	66.22	928
HSA-MIR-410-5P	96.55	66.28	459

Literature-anchored findings (GeneRIF, showing 5)

• GIRK1 and GIRK2 channels, but not GIRK3 or GIRK4, may may activate signaling pathways in development of lung cancer (PMID:16109170)
• The frequencies of GRIK3 (T928G) genotype distributions in the patients with schizophrenia were similar to those of their relatives. (PMID:19995671)
• a decisive role for the neuronal K(+) channel in regulating NCAM-dependent neurite outgrowth and attribute a physiologically meaningful role to the functional interplay of Kir3.3, NCAM, and TrkB in ontogeny (PMID:20610389)
• This study is the first to identify the expression of GIRK2-4 subunits in human esophageal smooth muscle cells. (PMID:21637918)
• De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures. (PMID:36833293)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kcnj9	ENSDARG00000061636
mus_musculus	Kcnj9	ENSMUSG00000038026
rattus_norvegicus	Kcnj9	ENSRNOG00000007645

Paralogs (15): KCNJ13 (ENSG00000115474), KCNJ5 (ENSG00000120457), KCNJ8 (ENSG00000121361), KCNJ2 (ENSG00000123700), KCNJ1 (ENSG00000151704), KCNJ16 (ENSG00000153822), KCNJ6 (ENSG00000157542), KCNJ15 (ENSG00000157551), KCNJ3 (ENSG00000162989), KCNJ4 (ENSG00000168135), KCNJ10 (ENSG00000177807), KCNJ14 (ENSG00000182324), KCNJ12 (ENSG00000184185), KCNJ11 (ENSG00000187486), KCNJ18 (ENSG00000260458)

Protein

Protein identifiers

G protein-activated inward rectifier potassium channel 3 — Q92806 (reviewed: Q92806)

Alternative names: Inward rectifier K(+) channel Kir3.3, Potassium channel, inwardly rectifying subfamily J member 9

All UniProt accessions (1): Q92806

UniProt curated annotations — full annotation on UniProt →

Function. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium, This receptor is controlled by G proteins. Unable to produce channel activity when expressed alone. Forms a functional channel in association with KCNJ3/GIRK1.

Subunit / interactions. Associates with KCNJ3/GIRK1 to form a G-protein-activated heteromultimer pore-forming unit. Interacts (via PDZ-binding motif) with SNX27 (via PDZ domain); the interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane.

Subcellular location. Membrane.

Domain organisation. The PDZ-binding motif specifically binds the PDZ domain of SNX27: the specificity for SNX27 is provided by the 2 residues located upstream (Glu-388 and Ser-389) of the PDZ-binding motif.

Similarity. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ9 subfamily.

RefSeq proteins (1): NP_004974* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003276	K_chnl_inward-rec_Kir3.3	Family
IPR013518	K_chnl_inward-rec_Kir_cyto	Homologous_superfamily
IPR014756	Ig_E-set	Homologous_superfamily
IPR016449	K_chnl_inward-rec_Kir	Family
IPR040445	Kir_TM	Domain
IPR041647	IRK_C	Domain

Pfam: PF01007, PF17655

Catalyzed reactions (Rhea), 1 shown:

• K(+)(in) = K(+)(out) (RHEA:29463)

UniProt features (17 total): topological domain 4, region of interest 2, short sequence motif 2, transmembrane region 2, intramembrane region 2, chain 1, compositionally biased region 1, site 1, sequence variant 1, strand 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6X23	X-RAY DIFFRACTION	2.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92806-F1	85.72	0.71

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 150 (role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium)

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-1296041	Activation of G protein gated Potassium channels
R-HSA-997272	Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
R-HSA-112314	Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315	Transmission across Chemical Synapses
R-HSA-112316	Neuronal System
R-HSA-1296059	G protein gated Potassium channels
R-HSA-1296065	Inwardly rectifying K+ channels
R-HSA-1296071	Potassium Channels
R-HSA-977443	GABA receptor activation
R-HSA-977444	GABA B receptor activation
R-HSA-991365	Activation of GABAB receptors

MSigDB gene sets: 121 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, BENPORATH_ES_WITH_H3K27ME3, REACTOME_POTASSIUM_CHANNELS, REACTOME_INWARDLY_RECTIFYING_K_CHANNELS, MEF2_02, GOBP_MONOATOMIC_CATION_TRANSPORT, KMCATNNWGGA_UNKNOWN, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_CIS, RFX1_02, REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES, GOBP_IMPORT_INTO_CELL, MEF2_Q6_01, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_EXCITATORY_SYNAPSE, GOCC_POTASSIUM_CHANNEL_COMPLEX

GO Biological Process (6): regulation of monoatomic ion transmembrane transport (GO:0034765), regulation of presynaptic membrane potential (GO:0099505), potassium ion import across plasma membrane (GO:1990573), monoatomic ion transport (GO:0006811), potassium ion transport (GO:0006813), monoatomic ion transmembrane transport (GO:0034220)

GO Molecular Function (4): inward rectifier potassium channel activity (GO:0005242), G-protein activated inward rectifier potassium channel activity (GO:0015467), protein binding (GO:0005515), ligand-gated monoatomic cation channel activity (GO:0099094)

GO Cellular Component (7): plasma membrane (GO:0005886), presynaptic membrane (GO:0042734), parallel fiber to Purkinje cell synapse (GO:0098688), inward rectifier potassium channel complex (GO:1902937), voltage-gated potassium channel complex (GO:0008076), membrane (GO:0016020), monoatomic ion channel complex (GO:0034702)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Neuronal System	2
G protein gated Potassium channels	1
Activation of GABAB receptors	1
Transmission across Chemical Synapses	1
Inwardly rectifying K+ channels	1
Potassium Channels	1
Neurotransmitter receptors and postsynaptic signal transmission	1
GABA receptor activation	1
GABA B receptor activation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
monoatomic ion transmembrane transport	1
regulation of transmembrane transport	1
regulation of monoatomic ion transport	1
regulation of membrane potential	1
potassium ion transmembrane transport	1
inorganic cation import across plasma membrane	1
transport	1
metal ion transport	1
monoatomic ion transport	1
transmembrane transport	1
voltage-gated potassium channel activity	1
ligand-gated monoatomic cation channel activity	1
inward rectifier potassium channel activity	1
binding	1
monoatomic cation channel activity	1
ligand-gated monoatomic ion channel activity	1
membrane	1
cell periphery	1
synaptic membrane	1
presynapse	1
excitatory synapse	1
voltage-gated potassium channel complex	1
potassium channel complex	1
plasma membrane protein complex	1
cellular anatomical structure	1
transmembrane transporter complex	1

Protein interactions and networks

STRING

1956 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCNJ9	KCNJ3	P48549	982
KCNJ9	KCNJ6	P48051	982
KCNJ9	KCNJ5	P48544	865
KCNJ9	SNX27	Q96L92	764
KCNJ9	GNB5	O14775	717
KCNJ9	RGS7	P49802	584
KCNJ9	RGS2	P41220	515
KCNJ9	ATP1A2	P50993	476
KCNJ9	CACNA1G	O43497	457
KCNJ9	KCND2	Q9NZV8	456
KCNJ9	KCNQ2	O43526	449
KCNJ9	KCNJ8	Q15842	421
KCNJ9	KCNQ3	O43525	419
KCNJ9	KCNK9	Q9NPC2	417
KCNJ9	CACNB1	Q02641	398

IntAct

126 interactions, top by confidence:

A	B	Type	Score
TMEM201	KCNJ9	psi-mi:“MI:0915”(physical association)	0.560
KCNJ9	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.440
SNTG1	KCNJ9	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
PDZK1	KCNJ9	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	IL16	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	SNTA1	psi-mi:“MI:0407”(direct interaction)	0.440
APBA3	KCNJ9	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	GRID2IP	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	GRIP2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	GRIP1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	GOPC	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	TJP1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	PDLIM1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNJ9	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (6): KCNJ9 (Affinity Capture-MS), TMEM201 (Two-hybrid), KCNJ9 (Affinity Capture-Western), KCNJ9 (Affinity Capture-Western), KCNJ9 (Affinity Capture-Western), KCNJ9 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: B7U540, E1BNE9, F1MYR9, F1NHE9, O02670, O02822, O18839, O19182, O70617, P35561, P48050, P48051, P48542, P48543, P48544, P48545, P48548, P48549, P48550, P49656, P49658, P52185, P52186, P52187, P52188, P52189, P52190, P52191, P52192, P63250, P63251, P63252, P63253, P70673, P97794, Q14500, Q14654, Q15842, Q4TZY1, Q5NVJ6

Diamond homologs: B7U540, E1BN00, E1BNE9, F1MYR9, F1NHE9, O02670, O02822, O18839, O19182, O60928, O70339, O70596, O70617, O88335, O88932, P35560, P35561, P48048, P48050, P48051, P48542, P48543, P48544, P48545, P48548, P48549, P48550, P49655, P49656, P49658, P52185, P52186, P52187, P52188, P52189, P52190, P52191, P52192, P63250, P63251

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 81 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	56.0×	1e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	53.3×	1e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	53.3×	1e-06
Long-term potentiation	5	46.6×	2e-06
Assembly and cell surface presentation of NMDA receptors	9	44.8×	2e-11
Neurexins and neuroligins	10	38.6×	1e-11
Protein-protein interactions at synapses	6	31.2×	1e-06
RHOA GTPase cycle	5	7.3×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	74.5×	2e-14
protein localization to synapse	6	58.9×	9e-08
receptor clustering	7	56.0×	7e-09
regulation of postsynaptic membrane neurotransmitter receptor levels	6	38.1×	8e-07
protein-containing complex assembly	9	13.1×	2e-06
cell-cell adhesion	10	13.0×	5e-07
regulation of small GTPase mediated signal transduction	5	9.2×	4e-03
chemical synaptic transmission	7	6.9×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

31 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

711 predictions. Top by Δscore:

Variant	Effect	Δscore
1:160081693:GTGCT:G	donor_gain	1.0000
1:160081698:G:GG	donor_gain	1.0000
1:160081703:T:G	donor_gain	1.0000
1:160084869:TGG:T	donor_gain	1.0000
1:160084871:G:GT	donor_gain	1.0000
1:160081695:GCT:G	donor_gain	0.9900
1:160084870:G:GA	donor_gain	0.9900
1:160087482:CCA:C	acceptor_loss	0.9900
1:160087483:CAG:C	acceptor_loss	0.9900
1:160087484:A:AT	acceptor_loss	0.9900
1:160087485:G:GC	acceptor_loss	0.9900
1:160081696:CTGTG:C	donor_loss	0.9800
1:160081697:TGT:T	donor_loss	0.9800
1:160081698:GTGA:G	donor_loss	0.9800
1:160081701:A:AT	donor_loss	0.9800
1:160084848:T:TA	donor_gain	0.9800
1:160084879:GG:G	donor_gain	0.9800
1:160084880:GG:G	donor_gain	0.9800
1:160087484:A:AG	acceptor_gain	0.9800
1:160087485:G:GG	acceptor_gain	0.9800
1:160087485:GGAAT:G	acceptor_gain	0.9800
1:160081694:TGCT:T	donor_gain	0.9700
1:160081695:GCTG:G	donor_gain	0.9700
1:160081700:GAGT:G	donor_gain	0.9700
1:160081702:G:C	donor_loss	0.9700
1:160084832:G:T	donor_gain	0.9700
1:160084864:C:T	donor_gain	0.9700
1:160084871:G:T	donor_gain	0.9700
1:160086170:T:A	acceptor_gain	0.9700
1:160087485:GGA:G	acceptor_gain	0.9700

AlphaMissense

2554 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:160084547:T:C	F173L	1.000
1:160084549:C:A	F173L	1.000
1:160084549:C:G	F173L	1.000
1:160084551:C:T	S174F	1.000
1:160084650:C:A	A207D	1.000
1:160084761:C:A	P244Q	1.000
1:160084857:T:C	L276P	1.000
1:160087510:C:T	S292F	1.000
1:160087533:T:A	W300R	1.000
1:160087533:T:C	W300R	1.000
1:160087546:T:C	F304S	1.000
1:160084116:G:A	G29D	0.999
1:160084116:G:T	G29V	0.999
1:160084175:T:C	F49L	0.999
1:160084177:C:A	F49L	0.999
1:160084177:C:G	F49L	0.999
1:160084244:T:A	W72R	0.999
1:160084244:T:C	W72R	0.999
1:160084257:G:A	G76D	0.999
1:160084265:T:A	W79R	0.999
1:160084265:T:C	W79R	0.999
1:160084332:T:A	V101D	0.999
1:160084365:T:C	L112P	0.999
1:160084368:T:C	F113S	0.999
1:160084378:G:C	E116D	0.999
1:160084378:G:T	E116D	0.999
1:160084380:C:T	T117I	0.999
1:160084389:C:T	T120I	0.999
1:160084394:G:C	G122R	0.999
1:160084395:G:A	G122D	0.999

dbSNP variants (sampled 300 via entrez): RS1000246451 (1:160080748 T>G), RS1000525075 (1:160082200 C>T), RS1000548338 (1:160082115 G>A,T), RS1000619973 (1:160080951 C>T), RS1000972898 (1:160080772 C>A), RS1000982439 (1:160081828 C>T), RS1001300311 (1:160090544 A>G), RS1001643051 (1:160083489 A>G), RS1002361505 (1:160085515 G>T), RS1002435134 (1:160085250 A>G), RS1002463545 (1:160083768 C>G,T), RS1002825877 (1:160089012 G>A), RS1003022590 (1:160080179 G>A), RS1003026839 (1:160080445 T>C), RS1003031005 (1:160082383 C>T)

Disease associations

OMIM: gene MIM:600932 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004990_1	Alcohol consumption over the past year	2.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3038490 (PROTEIN COMPLEX)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: vgic — Inwardly rectifying potassium channels (K_IR)

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects response to substance, decreases expression, affects methylation	2
Resveratrol	affects cotreatment, decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Lead	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tretinoin	affects expression	1
Valproic Acid	decreases methylation	1
Cyclosporine	increases methylation	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2411641	Binding	Activation of GIRK2/3 (unknown origin)	Discovery of ‘molecular switches’ within a GIRK activator scaffold that afford selective GIRK inhibitors. — Bioorg Med Chem Lett

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.