KCNK16

Summary

KCNK16 (potassium two pore domain channel subfamily K member 16, HGNC:14464) is a protein-coding gene on chromosome 6p21.2, encoding Potassium channel subfamily K member 16 (Q96T55). K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization.

The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene.

Source: NCBI Gene 83795 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_001135106

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14464
Approved symbol	KCNK16
Name	potassium two pore domain channel subfamily K member 16
Location	6p21.2
Locus type	gene with protein product
Status	Approved
Aliases	K2p16.1, TALK-1, TALK1
Ensembl gene	ENSG00000095981
Ensembl biotype	protein_coding
OMIM	607369
Entrez	83795

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000373227, ENST00000373229, ENST00000425054, ENST00000437525, ENST00000507712

RefSeq mRNA: 5 — MANE Select: NM_001135106 NM_001135105, NM_001135106, NM_001135107, NM_001363784, NM_032115

CCDS: CCDS47420, CCDS47421, CCDS47422, CCDS4843, CCDS87391

Canonical transcript exons

ENST00000437525 — 5 exons

Exon	Start	End
ENSE00000618879	39316782	39316947
ENSE00000750477	39317786	39317952
ENSE00000750478	39319019	39319133
ENSE00001630273	39316171	39316442
ENSE00002055627	39322328	39322702

Expression profiles

Bgee: expression breadth broad, 35 present calls, max score 96.71.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4725 / max 833.6988, expressed in 6 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73484	0.2826	4
73482	0.0890	3
73481	0.0384	3
73478	0.0292	3
73480	0.0134	2
73485	0.0079	1
73479	0.0061	1
73483	0.0058	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	96.71	gold quality
pancreas	UBERON:0001264	80.66	gold quality
body of pancreas	UBERON:0001150	75.00	gold quality
buccal mucosa cell	CL:0002336	66.83	gold quality
tendon of biceps brachii	UBERON:0008188	58.53	gold quality
duodenum	UBERON:0002114	54.85	gold quality
medial globus pallidus	UBERON:0002477	53.79	gold quality
upper leg skin	UBERON:0004262	53.78	silver quality
oviduct epithelium	UBERON:0004804	53.53	silver quality
cartilage tissue	UBERON:0002418	52.76	gold quality
globus pallidus	UBERON:0001875	50.82	gold quality
body of stomach	UBERON:0001161	47.28	gold quality
stomach	UBERON:0000945	47.27	gold quality
amniotic fluid	UBERON:0000173	44.85	gold quality
fundus of stomach	UBERON:0001160	44.28	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
bone marrow cell	CL:0002092	41.72	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
left lobe of thyroid gland	UBERON:0001120	40.94	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
thyroid gland	UBERON:0002046	40.36	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	14.94
E-ENAD-27	yes	10.90
E-GEOD-83139	yes	9.59
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting KCNK16, 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-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-645	97.28	66.30	486

Literature-anchored findings (GeneRIF, showing 4)

• at least two functional TALK-1 variants are present and may serve as background K+ currents in certain cells of the human pancreas. (PMID:12724142)
• These findings reveal TALK-1 channels as important modulators of second-phase insulin secretion and suggest a clinically relevant mechanism for rs1535500, which may increase type 2 diabetes risk by limiting glucose-stimulated insulin secretion. (PMID:26239056)
• The TALK-1/iOPN complex caused Vm hyperpolarization and reduced beta-cell glucose-stimulated Ca2+ influx, which is predicted to inhibit glucose stimulated insulin secretion. (PMID:28403169)
• data establish TALK-1 channels as key regulators of beta cell ER Ca(2+) and suggest that TALK-1 may be a therapeutic target to reduce ER Ca(2+) handling defects in beta cells during the pathogenesis of diabetes. (PMID:28928238)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
mus_musculus	Kcnk16	ENSMUSG00000023387
rattus_norvegicus	Kcnk16	ENSRNOG00000006422
drosophila_melanogaster	Ork1	FBGN0017561
drosophila_melanogaster	Task7	FBGN0037690
drosophila_melanogaster	Task6	FBGN0038165
drosophila_melanogaster	CG10864	FBGN0038621
drosophila_melanogaster	CG42340	FBGN0259242
caenorhabditis_elegans		WBGENE00006661
caenorhabditis_elegans		WBGENE00006674
caenorhabditis_elegans		WBGENE00006675
caenorhabditis_elegans		WBGENE00006679
caenorhabditis_elegans		WBGENE00006685
caenorhabditis_elegans		WBGENE00006686
caenorhabditis_elegans		WBGENE00006695
caenorhabditis_elegans		WBGENE00006696

Paralogs (14): KCNK2 (ENSG00000082482), KCNK6 (ENSG00000099337), KCNK10 (ENSG00000100433), KCNK15 (ENSG00000124249), KCNK17 (ENSG00000124780), KCNK1 (ENSG00000135750), KCNK13 (ENSG00000152315), KCNK5 (ENSG00000164626), KCNK9 (ENSG00000169427), KCNK3 (ENSG00000171303), KCNK7 (ENSG00000173338), KCNK4 (ENSG00000182450), KCNK12 (ENSG00000184261), KCNK18 (ENSG00000186795)

Protein

Protein identifiers

Potassium channel subfamily K member 16 — Q96T55 (reviewed: Q96T55)

Alternative names: 2P domain potassium channel Talk-1, TWIK-related alkaline pH-activated K(+) channel 1

All UniProt accessions (2): Q96T55, D6RC57

UniProt curated annotations — full annotation on UniProt →

Function. K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an ‘ion flux gating’ mode where outward but not inward ion flow opens the gate. Homo- and heterodimerizes to form functional channels with distinct regulatory and gating properties. In pancreatic islets, conducts K(+) countercurrents for Ca(2+) release from the endoplasmic reticulum (ER) and regulates the frequency and duration of cytosolic Ca(2+) oscillations coupled to secretion of pancreatic hormones. In pancreatic beta cells, drives ER Ca(2+) efflux, which in turn activates Ca(2+)-dependent plasma membrane K(+) slow currents and cytosolic Ca(2+) influx, overall contributing to synchronous cytosolic Ca(2+) oscillations. Limits glucose-induced cytosolic Ca(2+) oscillations coupled to second-phase INS secretion. Contributes to beta cell adaptation to acute inflammation by maintaining normal cytosolic Ca(2+) levels and INS secretion. May regulate beta cell mitochondrial Ca(2+) levels either indirectly via ER Ca(2+) efflux or directly by hyperpolarizing the mitochondrial membrane potential. Limits mitochondrial Ca(2+) oscillations and ATP production involved in glucose homeostasis upon metabolic stress. In pancreatic delta cells, limits Ca(2+)-induced Ca(2+)-release involved in somatostatin secretion and modulates islet paracrine signaling involved in glucagon secretion. Permeable to other monovalent cations such as Rb(+) and Cs(+).

Subunit / interactions. Homodimer; disulfide-linked. Heterodimer with KCNK17 and KCNK5.

Subcellular location. Endoplasmic reticulum membrane. Cell membrane Endoplasmic reticulum membrane. Mitochondrion inner membrane.

Tissue specificity. Highly expressed in pancreas, in both endocrine (alpha, beta, gamma, delta, and epsilon) and exocrine (acinar and ductal) cells. Expressed in pacreatic beta-cells (at protein level). Expressed in pacreatic delta-cells (at protein level). Not detectable in the other tissues tested.

Activity regulation. The channel conductance is stimulated by extracellular alkaline pH. Inhibited by Ba(2+) ions, quinine, quinidine, chloroform and halothane.

Domain organisation. The pore-forming domains 1 and 2 assemble to form a single pore in which M2 and M4 transmembrane helices line the central cavity and M1 and M3 face the lipid bilayer. The transmembrane helices are bridged by the selectivity filters 1 and 2 carrying a signature sequence TxTTxGYGD that coordinate the permeant ions. Up to four ions can simultaneously occupy the selectivity filter and at least two elementary charges must translocate across the filter to convert it into the open conformation.

Induction. Down-regulated when pancreatic islets are exposed to a cytokine mixture of TNF, IL1B and IFNG.

Similarity. Belongs to the two pore domain potassium channel (TC 1.A.1.8) family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96T55-1	a	yes
Q96T55-3	b
Q96T55-4	c
Q96T55-5	d

RefSeq proteins (5): NP_001128577, NP_001128578, NP_001128579, NP_001350713, NP_115491 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003092	2pore_dom_K_chnl_TASK	Family
IPR003280	2pore_dom_K_chnl	Family
IPR013099	K_chnl_dom	Domain

Pfam: PF07885

Catalyzed reactions (Rhea), 3 shown:

• K(+)(in) = K(+)(out) (RHEA:29463)
• Rb(+)(in) = Rb(+)(out) (RHEA:78547)
• Cs(+)(in) = Cs(+)(out) (RHEA:78555)

UniProt features (40 total): binding site 14, sequence variant 5, transmembrane region 4, sequence conflict 4, topological domain 3, splice variant 3, region of interest 2, intramembrane region 2, chain 1, disulfide bond 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96T55-F1	81.89	0.51

Functional residue map

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

Ligand- & substrate-binding residues (14): 108; 108; 109; 109; 110; 110; 111; 212; 212; 213; 213; 214 …

Disulfide bonds (1): 60

Mutagenesis-validated functional residues (1):

Position	Phenotype
110	acts as a dominant negative when it assembles with wild-type kcnk16, kcnk17 and kcnk5 subunits, disrupting the channel k

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-1299361	TWIK-related alkaline pH activated K+ channel (TALK)
R-HSA-5576886	Phase 4 - resting membrane potential
R-HSA-112316	Neuronal System
R-HSA-1296071	Potassium Channels
R-HSA-1296346	Tandem pore domain potassium channels
R-HSA-397014	Muscle contraction
R-HSA-5576891	Cardiac conduction

MSigDB gene sets: 123 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, REACTOME_TANDEM_PORE_DOMAIN_POTASSIUM_CHANNELS, REACTOME_POTASSIUM_CHANNELS, GOBP_INSULIN_SECRETION, AREB6_03, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, HANN_RESISTANCE_TO_BCL2_INHIBITOR_UP, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_PROTEIN_SECRETION, MYOD_01, GOBP_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT

GO Biological Process (10): potassium ion transport (GO:0006813), endoplasmic reticulum calcium ion homeostasis (GO:0032469), regulation of release of sequestered calcium ion into cytosol (GO:0051279), regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178), potassium ion transmembrane transport (GO:0071805), membrane repolarization during action potential (GO:0086011), regulation of action potential (GO:0098900), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), regulation of membrane potential (GO:0042391)

GO Molecular Function (7): potassium channel activity (GO:0005267), outward rectifier potassium channel activity (GO:0015271), potassium ion leak channel activity (GO:0022841), identical protein binding (GO:0042802), metal ion binding (GO:0046872), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)

GO Cellular Component (7): mitochondrial inner membrane (GO:0005743), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), monoatomic ion channel complex (GO:0034702), mitochondrion (GO:0005739), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Tandem pore domain potassium channels	1
Cardiac conduction	1
Neuronal System	1
Potassium Channels	1
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
action potential	2
cytoplasm	2
intracellular membrane-bounded organelle	2
metal ion transport	1
endoplasmic reticulum	1
intracellular calcium ion homeostasis	1
release of sequestered calcium ion into cytosol	1
regulation of calcium ion transmembrane transport	1
insulin secretion involved in cellular response to glucose stimulus	1
regulation of insulin secretion	1
regulation of cellular localization	1
potassium ion transport	1
monoatomic cation transmembrane transport	1
membrane repolarization	1
regulation of membrane potential	1
regulation of biological process	1
transport	1
monoatomic ion transport	1
transmembrane transport	1
monoatomic ion transmembrane transport	1
regulation of biological quality	1
monoatomic cation channel activity	1
potassium ion transmembrane transporter activity	1
voltage-gated potassium channel activity	1
potassium channel activity	1
leak channel activity	1
protein binding	1
cation binding	1
protein dimerization activity	1
binding	1
organelle inner membrane	1
mitochondrial membrane	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
transmembrane transporter complex	1
endomembrane system	1
cellular anatomical structure	1

Protein interactions and networks

STRING

682 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCNK16	KRT76	Q01546	720
KCNK16	R3HDML	Q9H3Y0	654
KCNK16	ZFAND3	Q9H8U3	600
KCNK16	MAEA	Q7L5Y9	590
KCNK16	GCC1	Q96CN9	583
KCNK16	FITM2	Q8N6M3	571
KCNK16	PSMD6	Q15008	524
KCNK16	PEPD	P12955	506
KCNK16	PRKACB	P22694	505
KCNK16	PRKACA	P17612	490
KCNK16	PRKACG	P22612	484
KCNK16	C2CD4A	Q8NCU7	479
KCNK16	GLIS3	Q8NEA6	479
KCNK16	ZFAND6	Q6FIF0	466
KCNK16	KCNJ11	Q14654	464

IntAct

10 interactions, top by confidence:

A	B	Type	Score
KCNK16	OTX1	psi-mi:“MI:0915”(physical association)	0.560
OTX1	KCNK16	psi-mi:“MI:0915”(physical association)	0.560
KCNK16	B3GAT3	psi-mi:“MI:0914”(association)	0.530
KCNK16	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
KCNK16	CCT7	psi-mi:“MI:0915”(physical association)	0.400
KCNK16	RPL26	psi-mi:“MI:0915”(physical association)	0.400
KCNK16	UBXN7	psi-mi:“MI:0914”(association)	0.350
KCNK16	GPAA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (65): KCNK16 (Two-hybrid), LSR (Affinity Capture-MS), UBXN7 (Affinity Capture-MS), C1GALT1C1 (Affinity Capture-MS), NPLOC4 (Affinity Capture-MS), PIGO (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), RETSAT (Affinity Capture-MS), UFD1L (Affinity Capture-MS), GHDC (Affinity Capture-MS), CYP51A1 (Affinity Capture-MS), GRAMD1A (Affinity Capture-MS), TMUB1 (Affinity Capture-MS), HMGCR (Affinity Capture-MS), SEC62 (Affinity Capture-MS)

ESM2 similar proteins: A0A2Z2U4G9, A4K2M4, A4K2N8, A4K2P6, A4K2Q6, A4K2R3, A4K2S2, A4K2T1, A4K2V2, A4K2W6, A4K2X4, A4K2Y2, G3V8R8, G5E845, L5KLU7, O00180, O08581, O14649, O17185, O19179, O35111, O35173, O54912, O88758, P26770, P51840, P55203, Q02846, Q0P5A0, Q17ST2, Q1KZG0, Q3LS21, Q3TBV4, Q5RD07, Q5UE96, Q7TNJ2, Q8BH02, Q8IZY2, Q8R454, Q8R5I0

Diamond homologs: G3V8R8, G3V8V5, G5E845, O00180, O08581, O14649, O17185, O35111, O54912, O88454, O95069, O95279, P57789, P97438, Q0P5A0, Q23435, Q3LS21, Q3TBV4, Q5RD07, Q5UE96, Q5VSE6, Q63ZI0, Q6Q1P3, Q6VV64, Q7Z418, Q8BUW1, Q8R454, Q8R5I0, Q920B6, Q96T54, Q96T55, Q9ERS1, Q9ES08, Q9H427, Q9HB14, Q9HB15, Q9JIS4, Q9JL58, Q9NPC2, Q9NYG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

655 predictions. Top by Δscore:

Variant	Effect	Δscore
6:39316780:A:AC	donor_gain	1.0000
6:39316781:C:CC	donor_gain	1.0000
6:39316791:AGT:A	donor_gain	1.0000
6:39316947:CCTAG:C	acceptor_loss	1.0000
6:39316776:TCTCA:T	donor_loss	0.9900
6:39316777:CTCA:C	donor_loss	0.9900
6:39316778:TCACC:T	donor_loss	0.9900
6:39316779:CACC:C	donor_loss	0.9900
6:39316780:A:AG	donor_loss	0.9900
6:39316781:CCAA:C	donor_gain	0.9900
6:39316791:AGTC:A	donor_gain	0.9900
6:39316791:AGTCC:A	donor_gain	0.9900
6:39319038:G:A	donor_gain	0.9900
6:39322320:C:A	donor_gain	0.9900
6:39322330:G:A	donor_gain	0.9900
6:39322336:A:AC	donor_gain	0.9900
6:39322337:C:CC	donor_gain	0.9900
6:39322337:CTG:C	donor_gain	0.9900
6:39316876:C:CT	acceptor_gain	0.9800
6:39316948:C:CC	acceptor_gain	0.9800
6:39317949:TATC:T	acceptor_gain	0.9800
6:39317950:ATCCT:A	acceptor_loss	0.9800
6:39317951:TCCT:T	acceptor_loss	0.9800
6:39317952:CCT:C	acceptor_loss	0.9800
6:39317953:C:CG	acceptor_loss	0.9800
6:39317954:T:A	acceptor_loss	0.9800
6:39322322:CTTCA:C	donor_loss	0.9800
6:39322323:TTCAC:T	donor_loss	0.9800
6:39322324:TCAC:T	donor_loss	0.9800
6:39322327:C:CT	donor_loss	0.9800

AlphaMissense

1905 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:39316810:G:C	S211R	0.992
6:39316810:G:T	S211R	0.992
6:39316812:T:G	S211R	0.992
6:39319068:C:A	W93C	0.991
6:39319068:C:G	W93C	0.991
6:39319053:A:C	S98R	0.984
6:39319053:A:T	S98R	0.984
6:39319055:T:G	S98R	0.984
6:39316828:A:C	F205L	0.983
6:39316828:A:T	F205L	0.983
6:39316830:A:G	F205L	0.983
6:39319070:A:G	W93R	0.976
6:39319070:A:T	W93R	0.976
6:39317952:C:T	G110E	0.973
6:39316796:C:A	G216V	0.972
6:39316798:A:C	F215L	0.970
6:39316798:A:T	F215L	0.970
6:39316800:A:G	F215L	0.970
6:39319044:A:C	F101L	0.969
6:39319044:A:T	F101L	0.969
6:39319046:A:G	F101L	0.969
6:39316389:A:G	W239R	0.968
6:39316389:A:T	W239R	0.968
6:39316852:C:A	W197C	0.967
6:39316852:C:G	W197C	0.967
6:39316854:A:G	W197R	0.967
6:39316854:A:T	W197R	0.967
6:39319033:A:T	V105D	0.966
6:39316822:G:C	F207L	0.965
6:39316822:G:T	F207L	0.965

dbSNP variants (sampled 300 via entrez): RS1000334771 (6:39321888 A>G), RS1000401187 (6:39320251 G>T), RS1000479957 (6:39315723 T>C), RS1000708011 (6:39321652 C>G), RS1000855572 (6:39322075 T>G), RS1001961869 (6:39315631 A>G), RS1002805825 (6:39319738 C>T), RS1002956574 (6:39321782 C>T), RS1002973113 (6:39314206 C>G,T), RS1003247478 (6:39319915 C>T), RS1003646823 (6:39324293 C>A), RS1004229954 (6:39318083 T>C,G), RS1004794426 (6:39316555 G>A), RS1004809330 (6:39322576 G>T), RS1005258545 (6:39320994 G>A)

Disease associations

OMIM: gene MIM:607369 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001351_4	Type 2 diabetes	2.000000e-08
GCST002352_14	Type 2 diabetes	8.000000e-06
GCST004894_135	Type 2 diabetes	5.000000e-07
GCST006073_16	Tenofovir clearance in HIV infection	6.000000e-07
GCST007847_10	Type 2 diabetes	4.000000e-14
GCST007847_90	Type 2 diabetes	1.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: vgic — Two-pore domain potassium channels (K_2P)

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases methylation	2
bisphenol A	affects cotreatment, increases methylation	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

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