KCNJ18
gene geneOn this page
Also known as KIR2.6TTPP2
Summary
KCNJ18 (potassium inwardly rectifying channel subfamily J member 18, HGNC:39080) is a protein-coding gene on chromosome 17p11.2, encoding Inward rectifier potassium channel 18 (B7U540). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it.
This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis.
Source: NCBI Gene 100134444 — RefSeq curated summary.
At a glance
- Gene–disease (curated): thyrotoxic periodic paralysis, susceptibility to, 2 (Strong, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 15 total
- Phenotypes (HPO): 54
- MANE Select transcript:
NM_001194958
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:39080 |
| Approved symbol | KCNJ18 |
| Name | potassium inwardly rectifying channel subfamily J member 18 |
| Location | 17p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIR2.6, TTPP2 |
| Ensembl gene | ENSG00000260458 |
| Ensembl biotype | protein_coding |
| OMIM | 613236 |
| Entrez | 100134444 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000567955
RefSeq mRNA: 1 — MANE Select: NM_001194958
NM_001194958
CCDS: CCDS74015
Canonical transcript exons
ENST00000567955 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002608500 | 21702731 | 21704612 |
| ENSE00003723436 | 21692523 | 21692714 |
| ENSE00003741406 | 21695983 | 21696104 |
Expression profiles
Bgee: expression breadth broad, 18 present calls, max score 71.99.
Top tissues by expression
129 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skin of abdomen | UBERON:0001416 | 71.99 | gold quality |
| zone of skin | UBERON:0000014 | 71.21 | gold quality |
| skin of leg | UBERON:0001511 | 70.90 | gold quality |
| tonsil | UBERON:0002372 | 46.01 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 44.63 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 42.11 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 41.45 | silver quality |
| colonic epithelium | UBERON:0000397 | 41.30 | gold quality |
| sural nerve | UBERON:0015488 | 38.29 | gold quality |
| muscle tissue | UBERON:0002385 | 37.48 | gold quality |
| apex of heart | UBERON:0002098 | 36.97 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| bone marrow cell | CL:0002092 | 36.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| granulocyte | CL:0000094 | 35.21 | gold quality |
| right testis | UBERON:0004534 | 33.69 | silver quality |
| bone marrow | UBERON:0002371 | 32.98 | gold quality |
| prefrontal cortex | UBERON:0000451 | 32.85 | gold quality |
| left testis | UBERON:0004533 | 32.68 | silver quality |
| testis | UBERON:0000473 | 32.51 | silver quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| esophagus mucosa | UBERON:0002469 | 32.08 | silver quality |
| muscle of leg | UBERON:0001383 | 31.92 | gold quality |
| gastrocnemius | UBERON:0001388 | 31.45 | gold quality |
| cerebellum | UBERON:0002037 | 31.09 | gold quality |
| cerebellar cortex | UBERON:0002129 | 30.87 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 30.86 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 30.06 | gold quality |
| leukocyte | CL:0000738 | 29.93 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.64 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
25 targeting KCNJ18, 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-10393-5P | 99.65 | 68.01 | 1368 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-183-3P | 99.41 | 69.41 | 1598 |
| HSA-MIR-5011-3P | 98.63 | 64.81 | 638 |
| HSA-MIR-6784-3P | 98.39 | 64.88 | 662 |
| HSA-MIR-6867-3P | 98.12 | 66.07 | 1305 |
| HSA-MIR-6862-3P | 97.92 | 64.86 | 531 |
| HSA-MIR-296-5P | 97.61 | 64.02 | 851 |
| HSA-MIR-3121-5P | 97.30 | 66.62 | 1146 |
| HSA-MIR-4313 | 97.18 | 63.15 | 420 |
| HSA-MIR-3194-5P | 96.80 | 64.90 | 1027 |
| HSA-MIR-6858-3P | 96.37 | 64.41 | 771 |
| HSA-MIR-548AD-3P | 94.39 | 66.04 | 350 |
| HSA-MIR-4707-5P | 90.95 | 65.69 | 110 |
Literature-anchored findings (GeneRIF, showing 9)
- While sequencing candidate genes, we identified a previously unreported gene (not present in human sequence databases) that encodes an inwardly rectifying potassium (Kir) channel, Kir2.6. (PMID:20074522)
- Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels. (PMID:21209095)
- suggest that decreased outward K(+) current from hypofunction of Kir2.6 predisposes the sarcolemma to hypokalemia-induced paradoxical depolarization during attacks, which in turn leads to Na(+) channel inactivation and inexcitability of muscles (PMID:21665951)
- TPP and SPP have the same susceptible gene variant rs623011 and may share the pathogenic mechanism of reduced Kir current in skeletal muscle independent of thyroid hormone. (PMID:22910584)
- KCNJ18 alterations are seldom pathogenic (PMID:25882930)
- 3.1% of thyrotoxic periodic paralysis cases had KCNJ18 gene mutations in mainland Chinese patients. Patients with KCNJ18 mutation had shorter attack duration, higher prevalence of muscle soreness and weakness recurrence than patients without the mutation. (PMID:25885757)
- A novel KCNJ18 mutation, G169R, identified in the hypokalemic periodic paralysis patient demonstrated a significant functional defect in vitro. (PMID:27178871)
- Study describes the functional consequences of a single amino acid change in Kir2.6 channel. The D252N mutation down-regulates the Kir2.6 activity, decreasing the K+ current density ( approximately 34%) when compared to the wildtype channel; whereas the mutation R386C shows no significant changes from wildtype. (PMID:28131627)
- Single-nucleotide variant in KCNJ18 gene is associated with Thyrotoxic Periodic Paralysis. (PMID:31361309)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kcnj12b | ENSDARG00000062618 |
| danio_rerio | kcnj12a | ENSDARG00000104965 |
| mus_musculus | Kcnj12 | ENSMUSG00000042529 |
| rattus_norvegicus | Kcnj12 | ENSRNOG00000002303 |
Paralogs (15): KCNJ13 (ENSG00000115474), KCNJ5 (ENSG00000120457), KCNJ8 (ENSG00000121361), KCNJ2 (ENSG00000123700), KCNJ1 (ENSG00000151704), KCNJ16 (ENSG00000153822), KCNJ6 (ENSG00000157542), KCNJ15 (ENSG00000157551), KCNJ9 (ENSG00000162728), KCNJ3 (ENSG00000162989), KCNJ4 (ENSG00000168135), KCNJ10 (ENSG00000177807), KCNJ14 (ENSG00000182324), KCNJ12 (ENSG00000184185), KCNJ11 (ENSG00000187486)
Protein
Protein identifiers
Inward rectifier potassium channel 18 — B7U540 (reviewed: B7U540)
Alternative names: Inward rectifier K(+) channel Kir2.6, Potassium channel, inwardly rectifying subfamily J member 18
All UniProt accessions (1): B7U540
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 heteromeric channels with Kir2.1/KCNJ2. Can form heteromeric channels with Kir2.2/KCNJ12.
Subcellular location. Cell membrane. Endoplasmic reticulum.
Tissue specificity. Specifically expressed in skeletal muscle.
Post-translational modifications. Probably phosphorylated by PKC; decreases single-channel open probability.
Disease relevance. Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. Disease susceptibility is associated with variants affecting the gene represented in this entry.
Induction. Up-regulated by triiodothyronine.
Similarity. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily.
RefSeq proteins (1): NP_001181887* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003272 | K_chnl_inward-rec_Kir2.2 | Family |
| IPR013518 | K_chnl_inward-rec_Kir_cyto | Homologous_superfamily |
| IPR013673 | K_chnl_inward-rec_Kir_N | Domain |
| IPR014756 | Ig_E-set | Homologous_superfamily |
| IPR016449 | K_chnl_inward-rec_Kir | Family |
| IPR040445 | Kir_TM | Domain |
| IPR041647 | IRK_C | Domain |
Pfam: PF01007, PF08466, PF17655
Catalyzed reactions (Rhea), 1 shown:
- K(+)(in) = K(+)(out) (RHEA:29463)
UniProt features (32 total): sequence variant 14, sequence conflict 5, topological domain 4, transmembrane region 2, mutagenesis site 2, chain 1, compositionally biased region 1, intramembrane region 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-B7U540-F1 | 81.10 | 0.66 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 156 | increased expression at the cell membrane. |
| 354 | decreases the single-channel open probability (po) without altering its conductance. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 137 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_IMPORT_INTO_CELL, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_TRANSPORTER_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOMF_VOLTAGE_GATED_MONOATOMIC_CATION_CHANNEL_ACTIVITY, GOMF_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_GATED_CHANNEL_ACTIVITY, GOMF_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_MONOATOMIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_VOLTAGE_GATED_POTASSIUM_CHANNEL_ACTIVITY, GOMF_POTASSIUM_CHANNEL_ACTIVITY, GOMF_INWARD_RECTIFIER_POTASSIUM_CHANNEL_ACTIVITY, GOMF_TRANSPORTER_ACTIVITY
GO Biological Process (5): regulation of monoatomic ion transmembrane transport (GO:0034765), 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 (2): inward rectifier potassium channel activity (GO:0005242), protein binding (GO:0005515)
GO Cellular Component (4): endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886), monoatomic ion channel complex (GO:0034702), membrane (GO:0016020)
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 |
| 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 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| transmembrane transporter complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
360 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KCNJ18 | CACNA1S | Q13698 | 909 |
| KCNJ18 | KCNE3 | Q9Y6H6 | 753 |
| KCNJ18 | SCN4A | P35499 | 723 |
| KCNJ18 | FOXL2NB | Q6ZUU3 | 571 |
| KCNJ18 | CLCN1 | P35523 | 534 |
| KCNJ18 | NOTCH2NLR | A0A096LNW5 | 402 |
| KCNJ18 | RFPL1 | O75677 | 397 |
| KCNJ18 | LYG2 | Q86SG7 | 349 |
| KCNJ18 | CLEC2A | Q6UVW9 | 349 |
| KCNJ18 | TYW1B | Q6NUM6 | 349 |
| KCNJ18 | SPINK6 | Q6UWN8 | 339 |
| KCNJ18 | DLG1 | Q12959 | 330 |
| KCNJ18 | ZNF570 | Q96NI8 | 325 |
| KCNJ18 | KCNH2 | Q12809 | 305 |
| KCNJ18 | DEFB132 | Q7Z7B7 | 305 |
IntAct
124 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KCNJ18 | KCNJ2 | psi-mi:“MI:0915”(physical association) | 0.660 |
| KCNJ2 | KCNJ18 | psi-mi:“MI:2364”(proximity) | 0.660 |
| DLG1 | KCNJ18 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| KCNJ18 | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| KCNJ18 | EMD | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCNJ18 | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | PDZD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | TIAM2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | ERBIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | SCRIB | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | PTPN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | MAGI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LIN7C | KCNJ18 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | DLG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| APBA3 | KCNJ18 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | MAST1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | APBA2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TJP1 | KCNJ18 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | PICK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | MPP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PDZRN4 | KCNJ18 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | NHERF4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | ARHGAP21 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNJ18 | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RAPGEF6 | KCNJ18 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
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 | 54.9× | 1e-06 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 52.3× | 1e-06 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 52.3× | 1e-06 |
| Long-term potentiation | 5 | 45.8× | 2e-06 |
| Assembly and cell surface presentation of NMDA receptors | 9 | 43.9× | 4e-11 |
| Neurexins and neuroligins | 10 | 37.9× | 2e-11 |
| Protein-protein interactions at synapses | 6 | 30.6× | 1e-06 |
| Neurotransmitter receptors and postsynaptic signal transmission | 5 | 9.6× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 11 | 82.0× | 2e-16 |
| protein localization to synapse | 6 | 58.9× | 7e-08 |
| receptor clustering | 7 | 56.0× | 7e-09 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 7 | 44.5× | 3e-08 |
| protein-containing complex assembly | 9 | 13.1× | 2e-06 |
| cell-cell adhesion | 10 | 13.0× | 4e-07 |
| chemical synaptic transmission | 7 | 6.9× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
15 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
2871 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:21703375:A:C | S197R | 1.000 |
| 17:21703377:C:A | S197R | 1.000 |
| 17:21703377:C:G | S197R | 1.000 |
| 17:21703730:C:T | S315F | 1.000 |
| 17:21703753:T:A | W323R | 1.000 |
| 17:21703753:T:C | W323R | 1.000 |
| 17:21702926:T:A | V47D | 0.999 |
| 17:21702938:G:T | G51V | 0.999 |
| 17:21703024:T:A | W80R | 0.999 |
| 17:21703024:T:C | W80R | 0.999 |
| 17:21703026:G:C | W80C | 0.999 |
| 17:21703026:G:T | W80C | 0.999 |
| 17:21703333:A:G | K183E | 0.999 |
| 17:21703335:G:C | K183N | 0.999 |
| 17:21703335:G:T | K183N | 0.999 |
| 17:21703372:T:C | F196L | 0.999 |
| 17:21703373:T:C | F196S | 0.999 |
| 17:21703374:C:A | F196L | 0.999 |
| 17:21703374:C:G | F196L | 0.999 |
| 17:21703376:G:T | S197I | 0.999 |
| 17:21703385:C:A | A200D | 0.999 |
| 17:21703423:T:A | W213R | 0.999 |
| 17:21703423:T:C | W213R | 0.999 |
| 17:21703437:C:A | N217K | 0.999 |
| 17:21703437:C:G | N217K | 0.999 |
| 17:21703474:G:C | A230P | 0.999 |
| 17:21703481:T:C | L232P | 0.999 |
| 17:21703586:C:A | P267H | 0.999 |
| 17:21703618:A:C | S278R | 0.999 |
| 17:21703620:C:A | S278R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1156247125 (17:21698083 T>C), RS1156341541 (17:21697564 G>A), RS1156569781 (17:21698853 C>T), RS1156629119 (17:21699532 T>C), RS1156688536 (17:21690718 T>C), RS1156829900 (17:21700813 A>G,T), RS1156875046 (17:21700072 C>T), RS1156897738 (17:21691819 G>A), RS1157008943 (17:21703853 G>A,T), RS1157086747 (17:21694974 CCCATCCATCCATCCCATTCGTCTAT>C), RS1157092491 (17:21703318 G>A), RS1157108823 (17:21695509 CCAGCTATT>C), RS1157225332 (17:21697066 A>G), RS1157369803 (17:21704789 G>T), RS1157391673 (17:21696266 C>T)
Disease associations
OMIM: gene MIM:613236 | disease phenotypes: MIM:613239
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| thyrotoxic periodic paralysis, susceptibility to, 2 | Strong | Autosomal dominant |
Mondo (1): thyrotoxic periodic paralysis, susceptibility to, 2 (MONDO:0013193)
Orphanet (1): Thyrotoxic periodic paralysis (Orphanet:79102)
HPO phenotypes
54 total (30 of 54 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000016 | Urinary retention |
| HP:0000597 | Ophthalmoparesis |
| HP:0000836 | Hyperthyroidism |
| HP:0000853 | Goiter |
| HP:0000975 | Hyperhidrosis |
| HP:0001265 | Hyporeflexia |
| HP:0001284 | Areflexia |
| HP:0001337 | Tremor |
| HP:0001347 | Hyperreflexia |
| HP:0001513 | Obesity |
| HP:0001649 | Tachycardia |
| HP:0001657 | Prolonged QT interval |
| HP:0001663 | Ventricular fibrillation |
| HP:0001824 | Weight loss |
| HP:0001962 | Palpitations |
| HP:0002019 | Constipation |
| HP:0002153 | Hyperkalemia |
| HP:0002203 | Respiratory paralysis |
| HP:0002445 | Tetraplegia |
| HP:0002486 | Myotonia |
| HP:0002900 | Hypokalemia |
| HP:0002917 | Hypomagnesemia |
| HP:0003134 | Abnormality of peripheral nerve conduction |
| HP:0003201 | Rhabdomyolysis |
| HP:0003394 | Muscle spasm |
| HP:0003457 | EMG abnormality |
| HP:0003470 | Paralysis |
| HP:0003552 | Muscle stiffness |
| HP:0003596 | Middle age onset |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_14 | Body mass index | 5.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
2 total (human), top 2 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| abrine | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: thyrotoxic periodic paralysis, susceptibility to, 2
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): thyrotoxic periodic paralysis, susceptibility to, 2