KCNJ15
geneOn this page
Also known as Kir4.2Kir1.3IRKK
Summary
KCNJ15 (potassium inwardly rectifying channel subfamily J member 15, HGNC:6261) is a protein-coding gene on chromosome 21q22.13-q22.2, encoding ATP-sensitive inward rectifier potassium channel 15 (Q99712). 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 has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene.
Source: NCBI Gene 3772 — RefSeq curated summary.
At a glance
- GWAS associations: 24
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_170736
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6261 |
| Approved symbol | KCNJ15 |
| Name | potassium inwardly rectifying channel subfamily J member 15 |
| Location | 21q22.13-q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Kir4.2, Kir1.3, IRKK |
| Ensembl gene | ENSG00000157551 |
| Ensembl biotype | protein_coding |
| OMIM | 602106 |
| Entrez | 3772 |
Gene structure
Transcript identifiers
Ensembl transcripts: 46 — 45 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000328656, ENST00000398925, ENST00000398927, ENST00000398928, ENST00000398930, ENST00000398932, ENST00000398934, ENST00000398938, ENST00000417042, ENST00000419868, ENST00000438657, ENST00000443341, ENST00000472602, ENST00000547341, ENST00000547595, ENST00000548700, ENST00000549158, ENST00000549805, ENST00000549932, ENST00000551422, ENST00000612702, ENST00000613499, ENST00000866348, ENST00000866349, ENST00000866350, ENST00000866351, ENST00000866352, ENST00000866353, ENST00000866354, ENST00000866355, ENST00000866356, ENST00000866357, ENST00000866358, ENST00000866359, ENST00000866360, ENST00000866361, ENST00000953621, ENST00000953622, ENST00000953623, ENST00000953624, ENST00000953625, ENST00000953626, ENST00000953627, ENST00000953628, ENST00000953629, ENST00000953630
RefSeq mRNA: 8 — MANE Select: NM_170736
NM_001276435, NM_001276436, NM_001276437, NM_001276438, NM_001276439, NM_002243, NM_170736, NM_170737
CCDS: CCDS13656
Canonical transcript exons
ENST00000398938 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001033335 | 38296926 | 38297023 |
| ENSE00001535646 | 38256991 | 38257185 |
| ENSE00003705460 | 38299244 | 38307357 |
Expression profiles
Bgee: expression breadth ubiquitous, 221 present calls, max score 98.98.
FANTOM5 (CAGE): breadth broad, TPM avg 7.7312 / max 2278.4424, expressed in 496 samples.
FANTOM5 promoters (27 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 189076 | 2.5293 | 68 |
| 189092 | 1.0942 | 131 |
| 189099 | 0.7271 | 75 |
| 189093 | 0.4636 | 105 |
| 189116 | 0.3833 | 149 |
| 189083 | 0.3590 | 37 |
| 189115 | 0.2546 | 115 |
| 189113 | 0.2380 | 132 |
| 189114 | 0.1916 | 105 |
| 189097 | 0.1887 | 33 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nephron tubule | UBERON:0001231 | 98.98 | gold quality |
| blood | UBERON:0000178 | 97.34 | gold quality |
| kidney epithelium | UBERON:0004819 | 96.78 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 96.22 | gold quality |
| parotid gland | UBERON:0001831 | 96.04 | gold quality |
| gingival epithelium | UBERON:0001949 | 95.68 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.86 | gold quality |
| kidney | UBERON:0002113 | 94.65 | gold quality |
| gingiva | UBERON:0001828 | 94.31 | gold quality |
| renal glomerulus | UBERON:0000074 | 94.29 | gold quality |
| periodontal ligament | UBERON:0008266 | 94.19 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 93.28 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.24 | gold quality |
| adult organism | UBERON:0007023 | 91.95 | gold quality |
| metanephros | UBERON:0000081 | 91.54 | gold quality |
| visceral pleura | UBERON:0002401 | 91.47 | gold quality |
| cortex of kidney | UBERON:0001225 | 91.04 | gold quality |
| squamous epithelium | UBERON:0006914 | 90.98 | gold quality |
| body of pancreas | UBERON:0001150 | 90.80 | gold quality |
| gall bladder | UBERON:0002110 | 90.74 | gold quality |
| renal medulla | UBERON:0000362 | 90.28 | gold quality |
| cervix epithelium | UBERON:0004801 | 90.14 | gold quality |
| lower lobe of lung | UBERON:0008949 | 89.45 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 88.92 | gold quality |
| buccal mucosa cell | CL:0002336 | 88.49 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.46 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 88.46 | gold quality |
| thyroid gland | UBERON:0002046 | 88.39 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 87.81 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 87.55 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10662 | yes | 485.60 |
| E-CURD-119 | yes | 56.05 |
| E-HCAD-10 | yes | 35.89 |
| E-ANND-3 | yes | 23.43 |
| E-GEOD-130148 | yes | 10.49 |
| E-HCAD-30 | no | 58.58 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
81 targeting KCNJ15, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-3681-5P | 99.82 | 66.88 | 387 |
| HSA-MIR-548AG | 99.77 | 69.25 | 1492 |
| HSA-MIR-548M | 99.70 | 68.87 | 1749 |
| HSA-MIR-548AI | 99.69 | 69.24 | 1494 |
| HSA-MIR-548BA | 99.69 | 69.14 | 1514 |
| HSA-MIR-570-5P | 99.69 | 69.24 | 1494 |
| HSA-MIR-6849-5P | 99.64 | 66.00 | 352 |
| HSA-MIR-6126 | 99.62 | 68.09 | 996 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
Literature-anchored findings (GeneRIF, showing 12)
- maintaining electrical integrity of bile-generating hepatocytes. (PMID:11804844)
- The potential synergy and consequences of the overexpression of KIR4.2 and KIR3.2 in Down’s syndrome brain development are discussed. (PMID:15068243)
- Calcium-sensing receptor interacts directly with Kir4.1 and Kir4.2 and can decrease their currents. (PMID:17122384)
- MUPP1 and Kir4.2 may participate in a protein complex in the nephron that could regulate transport of K(+) as well as other ions. (PMID:19420109)
- KCNJ15 is a previously unreported susceptibility gene for T2DM among Asians (PMID:20085713)
- It was shown that downregulation of Kcnj15 leads to increased insulin secretion in vitro and in vivo. The mechanism for regulating insulin secretion inolved a calcium-sensiong receptor. (PMID:22566534)
- We had performed a replication study using an independent larger Japanese population for the association of rs3746876 within KCNJ15, and observed a significant association of rs3746876 with type 2 diabetes, but this study failed to find original finding. (PMID:23595124)
- KCNJ15 has a major role in histamine-stimulated gastric acid secretion. (PMID:26108660)
- KCNJ15 couples with polyamines in sensing weak electric fields. (PMID:26449415)
- RNA-seq evidence of biallelic expression of KCNJ15 and 10 neighboring genes in at least one primary human tissue tested indicates that the expression of KCNJ15 is uncoupled from the control of the maternally inherited 5mCpG imprints at the WRB differentially methylated region (DMR) in disomic controls or trisomy (Down syndrome) individuals. (PMID:27100087)
- KCNJ15 Expression and Malignant Behavior of Esophageal Squamous Cell Carcinoma. (PMID:32052303)
- Hunting for Familial Parkinson’s Disease Mutations in the Post Genome Era. (PMID:33802862)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | KCNJ15 | ENSDARG00000058988 |
| mus_musculus | Kcnj15 | ENSMUSG00000062609 |
| rattus_norvegicus | Kcnj15 | ENSRNOG00000062944 |
| drosophila_melanogaster | Irk3 | FBGN0032706 |
| drosophila_melanogaster | Irk2 | FBGN0039081 |
| drosophila_melanogaster | Irk1 | FBGN0265042 |
| caenorhabditis_elegans | WBGENE00002149 | |
| caenorhabditis_elegans | WBGENE00002150 | |
| caenorhabditis_elegans | WBGENE00002151 |
Paralogs (15): KCNJ13 (ENSG00000115474), KCNJ5 (ENSG00000120457), KCNJ8 (ENSG00000121361), KCNJ2 (ENSG00000123700), KCNJ1 (ENSG00000151704), KCNJ16 (ENSG00000153822), KCNJ6 (ENSG00000157542), KCNJ9 (ENSG00000162728), KCNJ3 (ENSG00000162989), KCNJ4 (ENSG00000168135), KCNJ10 (ENSG00000177807), KCNJ14 (ENSG00000182324), KCNJ12 (ENSG00000184185), KCNJ11 (ENSG00000187486), KCNJ18 (ENSG00000260458)
Protein
Protein identifiers
ATP-sensitive inward rectifier potassium channel 15 — Q99712 (reviewed: Q99712)
Alternative names: Inward rectifier K(+) channel Kir1.3, Inward rectifier K(+) channel Kir4.2, Potassium channel, inwardly rectifying subfamily J member 15
All UniProt accessions (9): Q99712, A8MTZ5, A8MVK1, C9J0W5, C9JTX1, E7EPG3, E7EWV2, F8VW46, F8VX74
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.
Subunit / interactions. Can form heteromultimeric channels with Kir5.1/KCNJ16. Interacts with PATJ.
Subcellular location. Membrane. Cell membrane.
Activity regulation. Channel activity is regulated by variations of cytosolic pH; reversibly inhibited by acidic pH values. Inhibited by Ba(2+) and Cs(+) in a voltage-dependent manner.
Similarity. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ15 subfamily.
RefSeq proteins (8): NP_001263364, NP_001263365, NP_001263366, NP_001263367, NP_001263368, NP_002234, NP_733932, NP_733933 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003270 | K_chnl_inward-rec_Kir1.3 | 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 (15 total): topological domain 4, sequence variant 3, sequence conflict 2, transmembrane region 2, chain 1, intramembrane region 1, short sequence motif 1, site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99712-F1 | 85.84 | 0.57 |
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): 157 (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: 182 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, GRUETZMANN_PANCREATIC_CANCER_DN, REACTOME_POTASSIUM_CHANNELS, REACTOME_INWARDLY_RECTIFYING_K_CHANNELS, CMYB_01, FOXO4_01, FOXO1_01, PID_INTEGRIN_A9B1_PATHWAY, GOBP_MONOATOMIC_CATION_TRANSPORT, BLALOCK_ALZHEIMERS_DISEASE_UP, GATA6_01, RIGGI_EWING_SARCOMA_PROGENITOR_DN, LYF1_01, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, VECCHI_GASTRIC_CANCER_EARLY_DN
GO Biological Process (8): potassium ion transport (GO:0006813), regulation of monoatomic ion transmembrane transport (GO:0034765), potassium ion import across plasma membrane (GO:1990573), monoatomic ion transport (GO:0006811), metal ion transport (GO:0030001), monoatomic ion transmembrane transport (GO:0034220), potassium ion transmembrane transport (GO:0071805), monoatomic cation transmembrane transport (GO:0098655)
GO Molecular Function (3): inward rectifier potassium channel activity (GO:0005242), potassium channel activity (GO:0005267), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), monoatomic ion channel complex (GO:0034702), membrane (GO:0016020)
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 | 2 |
| monoatomic cation transport | 2 |
| metal ion transport | 1 |
| regulation of transmembrane transport | 1 |
| regulation of monoatomic ion transport | 1 |
| potassium ion transmembrane transport | 1 |
| inorganic cation import across plasma membrane | 1 |
| transport | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| potassium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| voltage-gated potassium channel activity | 1 |
| ligand-gated monoatomic cation channel activity | 1 |
| monoatomic cation channel activity | 1 |
| potassium ion transmembrane transporter activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| transmembrane transporter complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
998 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KCNJ15 | ABCC8 | Q09428 | 514 |
| KCNJ15 | GPD2 | P43304 | 470 |
| KCNJ15 | KCNQ1 | P51787 | 461 |
| KCNJ15 | WFS1 | O76024 | 440 |
| KCNJ15 | PPP1R3A | Q16821 | 427 |
| KCNJ15 | CAPN10 | Q9HC96 | 427 |
| KCNJ15 | TFAP2B | Q92481 | 427 |
| KCNJ15 | RETN | Q9HD89 | 424 |
| KCNJ15 | RETNLB | Q9BQ08 | 424 |
| KCNJ15 | ENPP1 | P22413 | 423 |
| KCNJ15 | EPHX2 | P34913 | 423 |
| KCNJ15 | KCNJ10 | P78508 | 396 |
| KCNJ15 | KCNA7 | Q96RP8 | 395 |
| KCNJ15 | HAO1 | Q9UJM8 | 392 |
| KCNJ15 | NEUROD1 | Q13562 | 389 |
| KCNJ15 | LIPC | P11150 | 389 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KCNJ2 | KCNJ15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCNJ5 | KCNJ15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| Il16 | KCNJ15 | psi-mi:“MI:0915”(physical association) | 0.530 |
| KCNJ15 | Il16 | psi-mi:“MI:0407”(direct interaction) | 0.530 |
| KCNJ15 | Patj | psi-mi:“MI:0915”(physical association) | 0.510 |
| Patj | KCNJ15 | psi-mi:“MI:0915”(physical association) | 0.510 |
| KCNJ15 | OSMR | psi-mi:“MI:0915”(physical association) | 0.400 |
| KCNJ5 | KCNJ15 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (7): KCNJ15 (Two-hybrid), KCNJ15 (Two-hybrid), OSMR (Affinity Capture-MS), KCNJ15 (Cross-Linking-MS (XL-MS)), KCNJ15 (Cross-Linking-MS (XL-MS)), KCNJ15 (Cross-Linking-MS (XL-MS)), KCNJ15 (Protein-peptide)
ESM2 similar proteins: B7U540, E1BNE9, F1MYR9, F1NHE9, O02670, O18839, O19182, O70339, O88335, O88932, P35560, P35561, P48048, P48050, P48051, P48542, P48543, P48544, P48545, P48548, P48549, P48550, P49655, P49656, P49658, P52185, P52186, P52187, P52188, P52189, P52190, P52191, P63250, P63251, P63252, P63253, P70673, P78508, Q14500, Q4TZY1
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.
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
861 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:38156298:TTTCA:T | acceptor_loss | 1.0000 |
| 21:38156302:A:AG | acceptor_gain | 1.0000 |
| 21:38156303:G:GA | acceptor_gain | 1.0000 |
| 21:38156303:GA:G | acceptor_gain | 1.0000 |
| 21:38156303:GAC:G | acceptor_gain | 1.0000 |
| 21:38156303:GACA:G | acceptor_gain | 1.0000 |
| 21:38297012:G:GG | donor_gain | 1.0000 |
| 21:38299241:A:AG | acceptor_gain | 1.0000 |
| 21:38299241:AAGT:A | acceptor_gain | 1.0000 |
| 21:38299242:A:AG | acceptor_gain | 1.0000 |
| 21:38299243:G:GG | acceptor_gain | 1.0000 |
| 21:38299243:GT:G | acceptor_gain | 1.0000 |
| 21:38299243:GTGT:G | acceptor_gain | 1.0000 |
| 21:38156303:GACAA:G | acceptor_gain | 0.9900 |
| 21:38296925:GGCA:G | acceptor_gain | 0.9900 |
| 21:38297007:GCGGA:G | donor_gain | 0.9900 |
| 21:38297009:GGA:G | donor_gain | 0.9900 |
| 21:38297010:GA:G | donor_gain | 0.9900 |
| 21:38297010:GAG:G | donor_gain | 0.9900 |
| 21:38299242:AGT:A | acceptor_gain | 0.9900 |
| 21:38299243:GTG:G | acceptor_gain | 0.9900 |
| 21:38299626:T:TA | acceptor_gain | 0.9900 |
| 21:38156294:T:TA | acceptor_gain | 0.9800 |
| 21:38299243:GTGTT:G | acceptor_gain | 0.9800 |
| 21:38299244:T:TA | acceptor_gain | 0.9800 |
| 21:38296920:TTTCA:T | acceptor_loss | 0.9600 |
| 21:38296922:TCAGG:T | acceptor_loss | 0.9600 |
| 21:38296923:CAG:C | acceptor_loss | 0.9600 |
| 21:38296924:A:G | acceptor_loss | 0.9600 |
| 21:38297021:CAG:C | donor_loss | 0.9600 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000013062 (21:38253773 T>G), RS1000020096 (21:38234878 C>A,T), RS1000058461 (21:38251499 C>A,T), RS1000080825 (21:38247133 G>C), RS1000118496 (21:38295758 C>A), RS1000128852 (21:38264470 T>G), RS1000135195 (21:38277394 G>A), RS1000186929 (21:38236604 T>C), RS1000244444 (21:38282969 A>G), RS1000261790 (21:38271562 A>G), RS1000348755 (21:38283931 C>T), RS1000359737 (21:38290023 A>G), RS1000419884 (21:38277859 T>C), RS1000475782 (21:38260283 T>A), RS1000480793 (21:38258610 C>T)
Disease associations
OMIM: gene MIM:602106 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
24 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003812_1 | Non-response to antidepressants and depression | 3.000000e-07 |
| GCST008839_303 | Height | 4.000000e-19 |
| GCST009391_1323 | Metabolite levels | 9.000000e-06 |
| GCST009391_1496 | Metabolite levels | 5.000000e-06 |
| GCST009391_1512 | Metabolite levels | 5.000000e-06 |
| GCST009391_285 | Metabolite levels | 6.000000e-06 |
| GCST012227_1119 | Hip circumference adjusted for BMI | 8.000000e-09 |
| GCST90000025_699 | Appendicular lean mass | 1.000000e-43 |
| GCST90002379_170 | Basophil count | 8.000000e-13 |
| GCST90002380_67 | Basophil percentage of white cells | 9.000000e-19 |
| GCST90002393_471 | Monocyte count | 2.000000e-10 |
| GCST90020024_813 | A body shape index | 6.000000e-09 |
| GCST90020024_814 | A body shape index | 2.000000e-08 |
| GCST90020024_815 | A body shape index | 3.000000e-10 |
| GCST90020025_1771 | Waist-to-hip ratio adjusted for BMI | 7.000000e-10 |
| GCST90020025_1772 | Waist-to-hip ratio adjusted for BMI | 9.000000e-10 |
| GCST90020025_1773 | Waist-to-hip ratio adjusted for BMI | 6.000000e-11 |
| GCST90020027_390 | Waist-hip index | 2.000000e-09 |
| GCST90020027_391 | Waist-hip index | 3.000000e-09 |
| GCST90020027_392 | Waist-hip index | 3.000000e-10 |
| GCST90020027_393 | Waist-hip index | 2.000000e-12 |
| GCST90020028_1540 | Hip circumference adjusted for BMI | 5.000000e-08 |
| GCST90020028_1542 | Hip circumference adjusted for BMI | 6.000000e-10 |
| GCST90020028_1582 | Hip circumference adjusted for BMI | 3.000000e-09 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010519 | pantothenic acid measurement |
| EFO:0010416 | triacylglycerol 52:4 measurement |
| EFO:0010417 | triacylglycerol 52:5 measurement |
| EFO:0010424 | triacylglycerol 54:6 measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004980 | appendicular lean mass |
| EFO:0005090 | basophil count |
| EFO:0007992 | basophil percentage of leukocytes |
| EFO:0005091 | monocyte count |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
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 — Inwardly rectifying potassium channels (KIR)
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| H+ | Antagonist | 7.1 | pEC50 |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, increases expression, decreases expression | 3 |
| bisphenol A | affects methylation, increases expression | 2 |
| Ozone | increases expression, affects expression, increases abundance | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | decreases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| seocalcitol | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bisphenol S | increases methylation | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| gardiquimod | decreases expression, decreases reaction | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Rosuvastatin Calcium | decreases expression | 1 |
| Decitabine | increases expression | 1 |
| Adenosine Triphosphate | increases activity | 1 |
| Barium | decreases activity | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Calcitriol | decreases expression | 1 |
| Cesium | decreases activity | 1 |
| Diazinon | decreases methylation | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_YA65 | IDG-HEK293T-KCNJ15-V5-OE | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Targeted by drugs: Barium
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): mood disorder