KCNE5
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Summary
KCNE5 (potassium voltage-gated channel subfamily E regulatory subunit 5, HGNC:6241) is a protein-coding gene on chromosome Xq23, encoding Potassium voltage-gated channel subfamily E regulatory beta subunit 5 (Q9UJ90). Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits.
This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome.
Source: NCBI Gene 23630 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Brugada syndrome (Limited, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 122 total — 1 pathogenic
- Phenotypes (HPO): 34
- MANE Select transcript:
NM_012282
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6241 |
| Approved symbol | KCNE5 |
| Name | potassium voltage-gated channel subfamily E regulatory subunit 5 |
| Location | Xq23 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000176076 |
| Ensembl biotype | protein_coding |
| OMIM | 300328 |
| Entrez | 23630 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000372101
RefSeq mRNA: 1 — MANE Select: NM_012282
NM_012282
CCDS: CCDS14547
Canonical transcript exons
ENST00000372101 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001456908 | 109623700 | 109625172 |
Expression profiles
Bgee: expression breadth ubiquitous, 117 present calls, max score 85.34.
FANTOM5 (CAGE): breadth broad, TPM avg 2.0469 / max 302.5477, expressed in 330 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200120 | 2.0469 | 330 |
Top tissues by expression
125 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.34 | gold quality |
| substantia nigra | UBERON:0002038 | 80.74 | gold quality |
| nucleus accumbens | UBERON:0001882 | 75.98 | gold quality |
| hypothalamus | UBERON:0001898 | 74.71 | gold quality |
| putamen | UBERON:0001874 | 73.56 | gold quality |
| caudate nucleus | UBERON:0001873 | 72.99 | gold quality |
| amygdala | UBERON:0001876 | 72.07 | gold quality |
| temporal lobe | UBERON:0001871 | 71.96 | gold quality |
| Ammon’s horn | UBERON:0001954 | 70.81 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 68.55 | gold quality |
| primary visual cortex | UBERON:0002436 | 66.51 | gold quality |
| cerebellum | UBERON:0002037 | 66.43 | gold quality |
| cerebellar cortex | UBERON:0002129 | 66.29 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 66.14 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 65.61 | gold quality |
| brain | UBERON:0000955 | 64.85 | gold quality |
| blood | UBERON:0000178 | 63.13 | gold quality |
| gastrocnemius | UBERON:0001388 | 62.37 | gold quality |
| prefrontal cortex | UBERON:0000451 | 62.35 | gold quality |
| cerebral cortex | UBERON:0000956 | 61.43 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 61.43 | gold quality |
| frontal cortex | UBERON:0001870 | 60.87 | gold quality |
| adrenal tissue | UBERON:0018303 | 60.11 | gold quality |
| muscle of leg | UBERON:0001383 | 60.07 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 59.98 | gold quality |
| bone marrow | UBERON:0002371 | 59.59 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 59.00 | gold quality |
| right frontal lobe | UBERON:0002810 | 58.68 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 57.64 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 57.30 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 1343.01 |
| E-MTAB-10432 | yes | 166.03 |
| E-CURD-112 | yes | 26.58 |
| E-ANND-3 | no | 1.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
51 targeting KCNE5, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-4671-3P | 99.88 | 72.46 | 1045 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-34B-5P | 99.78 | 67.56 | 1175 |
| HSA-MIR-449C-5P | 99.78 | 67.63 | 1168 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-2682-5P | 99.73 | 67.38 | 1055 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-4480 | 99.42 | 66.02 | 735 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-4764-5P | 98.88 | 65.53 | 894 |
Literature-anchored findings (GeneRIF, showing 5)
- A missense mutation in KCNE5 may be associated with nonfamilial or acquired forms of atrial fibrillation. (PMID:18313602)
- KCNE5 modulates I(to), and its novel variants appeared to cause IVF, especially BrS, in male patients through gain-of-function effects on I(to). Screening for KCNE5 variants is relevant for BrS or IVF. (PMID:21493962)
- Data show that KCNQ3 and KCNE5 mRNA expressions were significantly upregulated in preeclampsia. (PMID:21730298)
- common single nucleotide polymorphism (SNP) from KCNE5, and ECG measurements and survival in postacute acute coronary syndrome patients (PMID:21985337)
- Carriers of DSG2p.F531C showed various phenotypes. (PMID:30129429)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Kcne5 | ENSMUSG00000090122 |
| rattus_norvegicus | Kcne5 | ENSRNOG00000019176 |
Paralogs (1): KCNE3 (ENSG00000175538)
Protein
Protein identifiers
Potassium voltage-gated channel subfamily E regulatory beta subunit 5 — Q9UJ90 (reviewed: Q9UJ90)
Alternative names: AMME syndrome candidate gene 2 protein, Potassium channel subunit beta MiRP4, Potassium voltage-gated channel subfamily E member 1-like protein
All UniProt accessions (1): Q9UJ90
UniProt curated annotations — full annotation on UniProt →
Function. Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1.
Subunit / interactions. Interacts with KCNQ1; impairs KCNQ1 localization in lipid rafts and only conducts current upon strong and continued depolarization.
Subcellular location. Membrane.
Tissue specificity. Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.
Disease relevance. AMME complex (ATS-MR) [MIM:300194] An X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, intellectual disability, midface hypoplasia and elliptocytosis. The gene represented in this entry may be involved in disease pathogenesis.
Similarity. Belongs to the potassium channel KCNE family.
RefSeq proteins (1): NP_036414* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000369 | K_chnl_KCNE | Family |
UniProt features (10 total): sequence variant 4, glycosylation site 2, chain 1, transmembrane region 1, topological domain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UJ90-F1 | 64.43 | 0.19 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 2, 25
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-5576890 | Phase 3 - rapid repolarisation |
| R-HSA-5576893 | Phase 2 - plateau phase |
| R-HSA-397014 | Muscle contraction |
| R-HSA-5576891 | Cardiac conduction |
MSigDB gene sets: 263 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_CIRCULATORY_SYSTEM_PROCESS, AP4_Q6, TGACCTY_ERR1_Q2, GOBP_POSITIVE_REGULATION_OF_POTASSIUM_ION_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, COUP_01, GOBP_REGULATION_OF_CARDIAC_MUSCLE_CELL_MEMBRANE_REPOLARIZATION, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_POTASSIUM_ION_TRANSPORT, MYOD_01, GOBP_MUSCLE_CONTRACTION
GO Biological Process (16): regulation of heart contraction (GO:0008016), cardiac muscle contraction (GO:0060048), regulation of membrane repolarization (GO:0060306), regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307), regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372), ventricular cardiac muscle cell action potential (GO:0086005), membrane repolarization during action potential (GO:0086011), atrial cardiac muscle cell action potential (GO:0086014), regulation of heart rate by cardiac conduction (GO:0086091), potassium ion export across plasma membrane (GO:0097623), membrane repolarization during ventricular cardiac muscle cell action potential (GO:0098915), regulation of potassium ion transmembrane transport (GO:1901379), negative regulation of potassium ion transmembrane transport (GO:1901380), positive regulation of potassium ion transmembrane transport (GO:1901381), negative regulation of potassium ion export across plasma membrane (GO:1903765), monoatomic ion transport (GO:0006811)
GO Molecular Function (6): voltage-gated potassium channel activity (GO:0005249), potassium channel regulator activity (GO:0015459), transmembrane transporter binding (GO:0044325), delayed rectifier potassium channel activity (GO:0005251), protein binding (GO:0005515), voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)
GO Cellular Component (3): plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Cardiac conduction | 2 |
| Muscle contraction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| potassium ion transmembrane transport | 4 |
| heart contraction | 2 |
| membrane repolarization | 2 |
| regulation of cardiac muscle cell membrane repolarization | 2 |
| ventricular cardiac muscle cell membrane repolarization | 2 |
| cardiac muscle cell action potential involved in contraction | 2 |
| regulation of potassium ion transmembrane transport | 2 |
| potassium channel activity | 2 |
| regulation of blood circulation | 1 |
| striated muscle contraction | 1 |
| regulation of membrane potential | 1 |
| regulation of biological process | 1 |
| atrial cardiac muscle cell membrane repolarization | 1 |
| action potential | 1 |
| atrial cardiac muscle cell to AV node cell signaling | 1 |
| regulation of heart rate | 1 |
| cardiac conduction | 1 |
| export across plasma membrane | 1 |
| ventricular cardiac muscle cell action potential | 1 |
| membrane repolarization during cardiac muscle cell action potential | 1 |
| regulation of potassium ion transport | 1 |
| regulation of monoatomic cation transmembrane transport | 1 |
| negative regulation of potassium ion transport | 1 |
| negative regulation of cation transmembrane transport | 1 |
| positive regulation of potassium ion transport | 1 |
| positive regulation of cation transmembrane transport | 1 |
| potassium ion export across plasma membrane | 1 |
| negative regulation of potassium ion transmembrane transport | 1 |
| regulation of potassium ion export across plasma membrane | 1 |
| transport | 1 |
| voltage-gated monoatomic cation channel activity | 1 |
| ion channel regulator activity | 1 |
| protein binding | 1 |
| voltage-gated potassium channel activity | 1 |
| binding | 1 |
| voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization | 1 |
| membrane repolarization during ventricular cardiac muscle cell action potential | 1 |
| membrane | 1 |
| cell periphery | 1 |
| potassium channel complex | 1 |
Protein interactions and networks
STRING
444 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KCNE5 | KCNE1 | P15382 | 904 |
| KCNE5 | AMMECR1 | Q9Y4X0 | 870 |
| KCNE5 | KCNE3 | Q9Y6H6 | 828 |
| KCNE5 | KCNE4 | Q8WWG9 | 794 |
| KCNE5 | NXT2 | Q9NPJ8 | 793 |
| KCNE5 | KCNE2 | Q9Y6J6 | 791 |
| KCNE5 | GUCY2F | P51841 | 784 |
| KCNE5 | ACSL4 | O60488 | 782 |
| KCNE5 | KCNQ1 | P51787 | 756 |
| KCNE5 | KCND3 | Q9UK17 | 756 |
| KCNE5 | KCNJ8 | Q15842 | 726 |
| KCNE5 | RANGRF | Q9HD47 | 720 |
| KCNE5 | SCN2B | O60939 | 720 |
| KCNE5 | SCN3B | Q9NY72 | 720 |
| KCNE5 | SCN1B | Q07699 | 715 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SGTA | KCNE5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SGTB | KCNE5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PGRMC1 | KCNE5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GET3 | KCNE5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCNE5 | SGTA | psi-mi:“MI:0915”(physical association) | 0.000 |
| KCNE5 | SGTB | psi-mi:“MI:0915”(physical association) | 0.000 |
| GET3 | KCNE5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PGRMC1 | KCNE5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (7): KCNB1 (FRET), KCNG4 (FRET), KCNE1L (Two-hybrid), KCNE1L (Two-hybrid), SGTB (Two-hybrid), ASNA1 (Two-hybrid), APP (Reconstituted Complex)
ESM2 similar proteins: A0A1B0GW64, A0A5F4BST2, A0PJX4, A8MVS5, A8MWV9, B0FP48, E5RIL1, E9PGG2, O14836, O60320, O95998, P09564, Q01113, Q01114, Q13477, Q2KI80, Q2T9R2, Q3TS39, Q3UPR0, Q3URD2, Q4V9L6, Q5FVJ4, Q5M869, Q6A044, Q6UWJ8, Q75VT8, Q864V4, Q8BRJ3, Q8BX43, Q8C503, Q8IVY1, Q8K5A9, Q8N112, Q8NC24, Q8NDY8, Q8QZT4, Q8R138, Q969Z4, Q9BUF7, Q9CQM1
Diamond homologs: Q9JJV7, Q9QZ26, Q9UJ90, Q9WTW2, Q9Y6H6, P15383, Q9TUH9, Q9XSP1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
122 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 79 |
| Likely benign | 30 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 155374 | GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 | Pathogenic |
SpliceAI
212 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:109624604:AGCGC:A | donor_gain | 0.9900 |
| X:109624746:T:TA | donor_gain | 0.9400 |
| X:109624766:A:AC | donor_gain | 0.9300 |
| X:109624767:C:CC | donor_gain | 0.9300 |
| X:109624604:AGCG:A | donor_gain | 0.8800 |
| X:109624608:C:CA | donor_gain | 0.8700 |
| X:109623925:C:CC | acceptor_gain | 0.8300 |
| X:109624729:AAG:A | donor_gain | 0.8100 |
| X:109624318:CTGT:C | acceptor_gain | 0.8000 |
| X:109624407:G:A | donor_gain | 0.7700 |
| X:109624436:T:TA | donor_gain | 0.7600 |
| X:109624703:T:TA | donor_gain | 0.7400 |
| X:109624704:C:A | donor_gain | 0.7200 |
| X:109624102:T:A | donor_gain | 0.6900 |
| X:109624322:C:CC | acceptor_gain | 0.6900 |
| X:109624038:AGTGT:A | donor_gain | 0.6500 |
| X:109623924:A:AC | acceptor_gain | 0.6100 |
| X:109624319:TGT:T | acceptor_gain | 0.6100 |
| X:109624097:T:TA | donor_gain | 0.5900 |
| X:109624446:T:TA | donor_gain | 0.5900 |
| X:109624430:T:TA | donor_gain | 0.5800 |
| X:109624949:ACC:A | donor_gain | 0.5800 |
| X:109624950:CCC:C | donor_gain | 0.5800 |
| X:109624605:G:C | donor_gain | 0.5700 |
| X:109624320:GTCTG:G | acceptor_loss | 0.5600 |
| X:109624321:TCTGA:T | acceptor_loss | 0.5600 |
| X:109624323:T:A | acceptor_loss | 0.5600 |
| X:109624406:G:T | donor_gain | 0.5600 |
| X:109624053:C:CA | donor_gain | 0.5500 |
| X:109624320:GT:G | acceptor_gain | 0.5500 |
AlphaMissense
903 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:109624807:A:G | C72R | 0.992 |
| X:109624797:C:T | G75E | 0.988 |
| X:109624821:A:T | M67K | 0.984 |
| X:109624798:C:G | G75R | 0.982 |
| X:109624798:C:T | G75R | 0.982 |
| X:109624821:A:C | M67R | 0.981 |
| X:109624809:G:T | A71D | 0.980 |
| X:109624795:C:G | G76R | 0.978 |
| X:109624794:C:T | G76D | 0.976 |
| X:109624800:G:T | A74D | 0.976 |
| X:109624791:A:G | L77P | 0.974 |
| X:109624820:C:A | M67I | 0.973 |
| X:109624820:C:G | M67I | 0.973 |
| X:109624820:C:T | M67I | 0.973 |
| X:109624791:A:T | L77H | 0.971 |
| X:109624833:A:G | I63T | 0.965 |
| X:109624788:A:T | I78N | 0.955 |
| X:109624782:G:T | A80D | 0.954 |
| X:109624833:A:T | I63N | 0.952 |
| X:109624827:A:T | L65H | 0.950 |
| X:109624788:A:G | I78T | 0.946 |
| X:109624824:A:T | I66N | 0.943 |
| X:109624974:A:G | L16P | 0.943 |
| X:109624803:A:G | L73S | 0.941 |
| X:109624833:A:C | I63S | 0.933 |
| X:109624830:A:G | L64P | 0.932 |
| X:109624813:A:G | Y70H | 0.930 |
| X:109624813:A:C | Y70D | 0.928 |
| X:109624827:A:C | L65R | 0.924 |
| X:109624827:A:G | L65P | 0.923 |
dbSNP variants (sampled 300 via entrez): RS1001291286 (X:109623746 G>T), RS1001343516 (X:109624242 T>C,G), RS1002961872 (X:109625444 G>T), RS1003533900 (X:109625417 C>A), RS1003907166 (X:109626478 G>A), RS1004440073 (X:109625554 G>A), RS1004864872 (X:109626861 C>T), RS1005445723 (X:109623203 G>A), RS1005634548 (X:109623664 T>C), RS1008143134 (X:109625048 C>T), RS1008350888 (X:109626581 G>A), RS1010312239 (X:109625404 G>A), RS1010763338 (X:109627064 T>A), RS1010846288 (X:109625158 G>A), RS1014415398 (X:109623663 G>A)
Disease associations
OMIM: gene MIM:300328 | disease phenotypes: MIM:601144
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Brugada syndrome | Limited | Unknown |
| atrial fibrillation | Limited | X-linked |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| Brugada syndrome | Disputed | AD |
Mondo (2): Brugada syndrome (MONDO:0015263), atrial fibrillation (MONDO:0004981)
Orphanet (1): Brugada syndrome (Orphanet:130)
HPO phenotypes
34 total (30 of 34 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000083 | Renal insufficiency |
| HP:0000093 | Proteinuria |
| HP:0000233 | Thin vermilion border |
| HP:0000272 | Malar flattening |
| HP:0000365 | Hearing impairment |
| HP:0000463 | Anteverted nares |
| HP:0000486 | Strabismus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000545 | Myopia |
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0001182 | Tapered finger |
| HP:0001252 | Hypotonia |
| HP:0001279 | Syncope |
| HP:0001595 | Abnormal hair morphology |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001646 | Abnormal aortic valve morphology |
| HP:0001649 | Tachycardia |
| HP:0001663 | Ventricular fibrillation |
| HP:0001695 | Cardiac arrest |
| HP:0002907 | Microscopic hematuria |
| HP:0004308 | Ventricular arrhythmia |
| HP:0004445 | Elliptocytosis |
| HP:0004751 | Paroxysmal ventricular tachycardia |
| HP:0004755 | Supraventricular tachycardia |
| HP:0005280 | Depressed nasal bridge |
| HP:0010864 | Severe intellectual disability |
| HP:0011069 | Supernumerary tooth |
| HP:0011704 | Sick sinus syndrome |
| HP:0011705 | First degree atrioventricular block |
| HP:0011712 | Complete right bundle branch block |
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001281 | Atrial Fibrillation | C14.280.067.198; C23.550.073.198 |
| D053840 | Brugada Syndrome | C14.280.067.322; C14.280.123.250; C16.320.100 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Resveratrol | affects cotreatment, decreases expression | 2 |
| Valproic Acid | increases methylation, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| bisphenol S | increases methylation | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Amiodarone | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
| Coal Ash | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00702117 | PHASE4 | COMPLETED | Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias |
| NCT00032591 | PHASE4 | COMPLETED | The Home INR Study |
| NCT00127712 | PHASE4 | COMPLETED | Prevention of Atrial Fibrillation Following Noncardiac Thoracic Surgery |
| NCT00157781 | PHASE4 | COMPLETED | LEAF - Low Energy In Atrial Fibrillation |
| NCT00170313 | PHASE4 | TERMINATED | CORE: Study to Evaluate the Conducted AF-Response-Algorithm in Patients Suffering From Heart Failure and Atrial Fibrillation |
| NCT00189319 | PHASE4 | COMPLETED | To Evaluate the Impact of Oral Flecainide on Quality of Life in Patients With Paroxysmal Atrial Fibrillation |
| NCT00196144 | PHASE4 | COMPLETED | FFS - Far Field Sensing Test Study in Cardiac Dual Chamber Pacemakers |
| NCT00196157 | PHASE4 | UNKNOWN | Line Versus Spot Ablation in Persistent Atrial Fibrillation |
| NCT00196183 | PHASE4 | COMPLETED | Trigger- vs. Substrate-Ablation for Paroxysmal Atrial Fibrillation |
| NCT00196209 | PHASE4 | UNKNOWN | Cardioversion vs. Catheter Ablation for Persistent Atrial Fibrillation |
| NCT00227344 | PHASE4 | TERMINATED | CACAF2 Study: Catheter Ablation for Cure of Atrial Fibrillation |
| NCT00232219 | PHASE4 | COMPLETED | Use of Fish Oils to Reduce Recurrence of Atrial Fibrillation Following DC Cardioversion |
| NCT00232232 | PHASE4 | COMPLETED | Use of Fish Oils to Prevent Atrial Mechanical Stunning and Atrial Remodeling Due to Atrial Arrhythmia |
| NCT00232245 | PHASE4 | COMPLETED | Use of Fish Oils to Reduce the Frequency and Duration of Episodes of Atrial Fibrillation in Patients With Paroxysmal Atrial Fibrillation. |
| NCT00239226 | PHASE4 | COMPLETED | Electrophysiologically Guided PAcing Site Selection Study |
| NCT00247780 | PHASE4 | COMPLETED | Cavotricuspid Isthmusblock and Circumferential Pulmonary Vein Isolation in Patients With Atrial Fibrillation |
| NCT00256152 | PHASE4 | COMPLETED | Asymptomatic Atrial Fibrillation and Stroke Evaluation in Pacemaker Patients and the Atrial Fibrillation Reduction Atrial Pacing Trial |
| NCT00262119 | PHASE4 | COMPLETED | MINERVA: MINimizE Right Ventricular Pacing to Prevent Atrial Fibrillation and Heart Failure |
| NCT00287209 | PHASE4 | COMPLETED | Reduction of Atrial Fibrillation Study in Patients Undergoing Coronary Artery Bypass Grafting. (RASCABG 1 Study) |
| NCT00289042 | PHASE4 | COMPLETED | Assessment of Cardioversion Using Transesophageal Echocardiography II (ACUTE II) |
| NCT00313443 | PHASE4 | COMPLETED | Concentrations of Amiodarone in Fat Tissue During Chronic Treatment |
| NCT00340314 | PHASE4 | COMPLETED | A Trial of Circumferential Pulmonary Vein Ablation (CPVA) Versus Antiarrhythmic Drug Therapy in for Paroxysmal Atrial Fibrillation (AF) |
| NCT00343499 | PHASE4 | TERMINATED | The Use of DIOVAN to Reduce Post-Cardioversion Recurrence of Atrial Fibrillation Trial (the DRAFT Trial) |
| NCT00408473 | PHASE4 | TERMINATED | Comparative Study of Flecainide CR and Placebo in the Early Treatment of Atrial Fibrillation. |
| NCT00420017 | PHASE4 | COMPLETED | Prevention of Atrial Fibrillation Following Esophagectomy |
| NCT00438113 | PHASE4 | COMPLETED | Atrial Substrate Modification With Aggressive Blood Pressure Lowering to Prevent AF |
| NCT00446966 | PHASE4 | COMPLETED | Fish Oil for Reduction of Atrial Fibrillation After Cardiac Surgery |
| NCT00449410 | PHASE4 | COMPLETED | Silent Cerebrovascular Lesion and Cognitive Decline Prevention by Cholesterol Lowering in Elderly AF Patients |
| NCT00466973 | PHASE4 | WITHDRAWN | Atrial Fibrillation Ablation Device Comparison Study |
| NCT00511173 | PHASE4 | COMPLETED | Comparison of Warfarin Dosing Using Decision Model Versus Pharmacogenetic Algorithm |
| NCT00512915 | PHASE4 | COMPLETED | Avoid FFS - Use of the Atrial Pacemaker Lead 1699 With Very Short Tip Ring Spacing to Avoid Far Field Sensing |
| NCT00552084 | PHASE4 | COMPLETED | Evaluating the Effectiveness of Fish Oil Supplements at Reducing the Recurrence of Atrial Fibrillation |
| NCT00559988 | PHASE4 | TERMINATED | Combined Use of BIOTRONIK Home Monitoring and Predefined Anticoagulation to Reduce Stroke Risk |
| NCT00579098 | PHASE4 | COMPLETED | The Use of Statins Following a Left Atrial Catheter Ablation Procedure to Prevent Atrial Fibrillation |
| NCT00586287 | PHASE4 | COMPLETED | Study to Find Out the Appropriate Initial Dose of the Anticoagulant Drug Phenprocoumon |
| NCT00597077 | PHASE4 | COMPLETED | Atrial Fibrillation and Congestive Heart Failure Trial |
| NCT00603317 | PHASE4 | COMPLETED | Pharmacodynamic Drug Interaction Between Warfarin and Amoxicillin-clavulanic Acid |
| NCT00605748 | PHASE4 | UNKNOWN | Pulmonary Vein (PV) -Isolation: Arrhythmogenic Vein(s) Versus All Veins |
| NCT00643188 | PHASE4 | COMPLETED | Catheter Ablation vs. Standard Conventional Treatment in Patients With LV Dysfunction and AF |
| NCT00678340 | PHASE4 | COMPLETED | Randomized Trial of Two Ablation Catheters in Paroxysmal Atrial Fibrillation |
Related Atlas pages
- Associated diseases: Brugada syndrome, atrial fibrillation
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atrial fibrillation, Brugada syndrome