Overview
| Alternate Names: | Jervell and Lange-Nielsen syndrome 1; kidney and cardiac voltage dependend K+ channel; long (electrocardiographic) QT syndrome, Ward-Romano syndrome 1; slow delayed rectifier channel subunit |
|---|---|
| Alternate Symbols: | ATFB1; ATFB3; FLJ26167; JLNS1; KCNA8; KCNA9; KVLQT1; Kv1.9; Kv7.1; LQT; LQT1; RWS; SQT2; WRS |
| PharmGKB Accession Id: | PA223 |
Details
| Cytogenetic Location: | chr11 : p15.5 - p15.4 |
|---|---|
| GP mRNA Boundary†: | chr11 : 2422797 - 2826916 |
| GP Gene Boundary†: | chr11 : 2412797 - 2829916 |
| Strand: | plus |
| Product Name: | kidney and cardiac voltage dependend K+ channel, long (electrocardiographic) QT syndrome, Ward-Romano syndrome 1, potassium voltage-gated channel, KQT-like subfamily, member 1, potassium voltage-gated channel, KQT-like subfamily, member 1 isoform 1, potassium voltage-gated channel, KQT-like subfamily, member 1 isoform 2, potassium voltage-gated channel, KQT-like subfamily, member 1 isoform 3, slow delayed rectifier channel subunit |
†
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped
onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries
by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for
potential regulatory regions.
Curated Annotations (
)
-
rs757092
at chr11:2455754
in
KCNQ1
Minor allele G is associated with LQTS1(tagging SNP for QTL haplotype block).- Variant Name:
- KCNH2:rs757092
- Evidence:
-
PMID:15746444
PMID:17534376
-
rs1800172
at chr11:2825705
in
KCNQ1
Secondary LQTS1.- Variant Name:
- KCNQ1:G643S
- Evidence:
-
PMID:10973849
PMID:16723781
Non-Curated Annotations (
)
-
rs2074238
at chr11:2441379
in
KCNQ1
GWAS results: Common variants at ten loci influence QT interval duation in the QTGEN Study. (Initial Sample Size: 13,685 individuals; Replication Sample Size: 15,854 individuals); (Region: 11p15.5; Reported Gene(s): KCNQ1; Risk Allele: rs2074238-T); (p-value= 0.00000000000000003).This variant is associated with QT interval. -
rs12296050
at chr11:2445918
in
KCNQ1
GWAS results: Common variants at ten loci modulate the QT interval duration in the QTSCD Study. (Initial Sample Size: 15,842 individuals; Replication Sample Size: up to 13,602 individuals); (Region: 11p15.5; Reported Gene(s): KCNQ1; Risk Allele: rs12296050-T); (p-value= 0.00000000000000003).This variant is associated with QT interval. -
rs12576239
at chr11:2458895
in
KCNQ1
GWAS results: Common variants at ten loci influence QT interval duation in the QTGEN Study. (Initial Sample Size: 13,685 individuals; Replication Sample Size: 15,854 individuals); (Region: 11p15.5; Reported Gene(s): KCNQ1; Risk Allele: rs12576239-T); (p-value= 0.000000000000001).This variant is associated with QT interval. -
rs2237892
at chr11:2796327
in
KCNQ1
GWAS results: Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. (Initial Sample Size: 187 Japanese cases, 1,504 Japanese controls; Replication Sample Size: 6,552 Asian cases, 6,621 Asian controls, 2,830 cases, 3,740 controls (Swedish)); (Region: 11p15.5; Reported Gene(s): KCNQ1; Risk Allele: rs2237892-C); (p-value= 2E-42).This variant is associated with Type 2 diabetes.- Related Diseases:
- Diabetes Mellitus, Diabetes Mellitus, Type 2
- Evidence:
-
PMID:18711367
http://www.genome.gov/gwastudies/
-
rs2237897
at chr11:2815122
in
KCNQ1
GWAS results: SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. (Initial Sample Size: 194 Japanese cases, 1,558 Japanese controls; Replication Sample Size: 4,924 cases, 2,618 controls (Japanese), 1433 cases, 1,735 controls (Singaporean), 3,891 cases, 4,888 controls (Danish)); (Region: 11p15.4; Reported Gene(s): KCNQ1; Risk Allele: rs2237897-C); (p-value= 0.0000000000000001).This variant is associated with Type 2 diabetes.- Related Diseases:
- Diabetes Mellitus, Diabetes Mellitus, Type 2
- Evidence:
-
PMID:18711366
http://www.genome.gov/gwastudies/
Variant names are different names that have been used in the literature and other resources to
refer to the same variant.
Non-curated variant information is accumulated solely by computational methods and has not
been verified by the scientific staff at PharmGKB.
Non-Curated Information
A list of non-curated publications that mention this gene along with other genes is available.
PharmGKB Curated Pathways
Curated Information
The following drugs are in curated knowledge about this gene.
| Drug Class | Relationship | Evidence | |
|---|---|---|---|
|
antiarrhythmics, class i and iii |
|
Publications |
|
|
xenobiotics |
|
Publications |
| Drug | Relationship | Evidence | |
|---|---|---|---|
|
cisapride |
|
Publications |
|
|
epinephrine |
|
Publications |
|
|
sibutramine |
|
Publications |
Non-Curated Information
A list of non-curated publications that mention this gene along with other drugs is available.
Curated Information
The following diseases are in curated knowledge about this gene.
| Disease | Relationship | Evidence | |
|---|---|---|---|
|
|
Abnormalities, Drug-Induced |
|
Publications |
|
|
Atrial Fibrillation |
|
Publications |
|
|
congenital long QT syndrome |
|
Publications |
|
|
Cystic Fibrosis |
|
Publications |
|
|
Long QT Syndrome |
|
Publications |
|
|
Romano-Ward Syndrome |
|
Publications |
|
|
Torsades de Pointes |
|
Publications |
Non-Curated Information
A list of non-curated publications that mention this gene along with other diseases is available.
Curated Phenotype Datasets
These datasets are sorted alphabetically by title.
- Drug-Induced Long QT Intervals
- PD
Submitted by Dan Roden, MD involving ADRB1, ADRB2, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A, almokalant, amiodarone, amitriptyline, bretylium, bupivacaine, cisapride, disopyramide, dofetilide, encainide, fluconazole, haloperidol, hydroquinidine, isoflurane, itraconazole, ketoconazole, lithium, loratadine, metoclopramide, nortriptyline, procainamide, quinidine, sematilide, sotalol, sulfamethoxazole, thioridazine, trimethoprim, , Long QT Syndrome, Proarrhythmia and Torsades de Pointes
Additional Datasets
These datasets are minimally curated and are sorted alphabetically by title.
Downloads
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LinkOuts
- Entrez Gene ID:
- 3784
- OMIM Accession:
- 192500
- 220400
- 607542
- 607554
- 609621
- UCSC Genome Browser ID:
- NM_000218
- Ref Seq NM Accession:
- NM_000218
- NM_181797
- NM_181798
- Ref Seq NP Accession:
- A0FIK7
- A0FIK8
- AAB53974
- AAC00066
- AAC05705
- AAC51776
- AAC51781
- AAH17074
- AAI11848
- AAI13546
- AAM94040
- ABJ98773
- ABJ98774
- BAA34738
- BAA34739
- BAF83307
- CAB44649
- CAB44650
- EAX02517
- EAX02518
- EAX02519
- EAX02520
- EAX02521
- NP_000209
- NP_861462
- NP_861463
- O00550
- P51787
- Q14D14
- Q96AI9
- Ref Seq NT Accession:
- AC_000054
- AC_000143
- NC_000011
- NG_008935
- NT_009237
- NW_001838018
- NW_924962
- UniProtKB Accesssion:
- KCNQ1_HUMAN (P51787)
- Ensembl ID:
- ENSG00000053918
- GenAtlas ID:
- KCNQ1
- GeneCard ID:
- KCNQ1
- SOURCE ID:
- KCNQ1
- MutDB ID:
- KCNQ1
- PromoLign ID:
- ortho_4729
- ALFRED ID:
- LO004196U
- HuGE ID:
- KCNQ1
- Comparative Toxicogenomics Acc ID:
- 3784
- ModBase:
- P51787
- IUPHAR Receptor ID:
- Kv7.1 (560)
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.