KCNE2

KCNE2: Potassium voltage-gated channel, Isk-related family, member 2

Identifiers

Symbols KCNE2; ATFB4; LQT5; LQT6; MGC138292; MIRP1

External IDs OMIM: 603796 MGI: 1891123 HomoloGene: 71688 GeneCards: KCNE2 Gene

Gene Ontology

Molecular function • voltage-gated ion channel activity
• voltage-gated potassium channel activity
• potassium channel regulator activity

Cellular component • lysosome
• plasma membrane
• voltage-gated potassium channel complex
• integral to membrane

Biological process • ion transport
• potassium ion transport
• muscle contraction
• blood circulation
• regulation of heart contraction

Sources: Amigo / QuickGO

Orthologs

Species Human Mouse

Entrez 9992 246133

Ensembl ENSG00000159197 ENSMUSG00000039672

UniProt Q9Y6J6 Q9D808

RefSeq (mRNA) NM_172201 NM_134110.3

RefSeq (protein) NP_751951 NP_598871.1

Location (UCSC) Chr 21:
35.74 – 35.74 Mb Chr 16:
92.29 – 92.3 Mb

PubMed search [1] [2]

Potassium voltage-gated channel subfamily E member 2 is a protein that in humans is encoded by the KCNE2 gene.^[1]^[1] The protein encoded by this gene is a voltage-gated potassium channel accessory subunit (beta subunit) associated with Long QT syndrome.^[1]

References

^ ^a ^b ^c Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA (May 1999). "MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia". Cell 97 (2): 175–87. doi:10.1016/S0092-8674(00)80728-X. PMID 10219239.

Further reading

Gouas L, Nicaud V, Chaouch S, et al. (2007). "Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.". Eur. J. Hum. Genet. 15 (9): 974–9. doi:10.1038/sj.ejhg.5201866. PMC 2234597. PMID 17534376. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2234597.

McCrossan ZA, Roepke TK, Lewis A, et al. (2009). "Regulation of the Kv2.1 potassium channel by MinK and MiRP1.". J. Membr. Biol. 228 (1): 1–14. doi:10.1007/s00232-009-9154-8. PMC 2849987. PMID 19219384. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2849987.

Millat G, Kugener B, Chevalier P, et al. (2009). "Contribution of long-QT syndrome genetic variants in sudden infant death syndrome.". Pediatr Cardiol 30 (4): 502–9. doi:10.1007/s00246-009-9417-2. PMID 19322600.

Abbott GW, Ramesh B, Srai SK (2008). "Secondary structure of the MiRP1 (KCNE2) potassium channel ancillary subunit.". Protein Pept. Lett. 15 (1): 63–75. doi:10.2174/092986608783330413. PMID 18221016.

Jiang M, Xu X, Wang Y, et al. (2009). "Dynamic partnership between KCNQ1 and KCNE1 and influence on cardiac IKs current amplitude by KCNE2.". J. Biol. Chem. 284 (24): 16452–62. doi:10.1074/jbc.M808262200. PMC 2713561. PMID 19372218. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2713561.

Nyholt DR, LaForge KS, Kallela M, et al. (2008). "A high-density association screen of 155 ion transport genes for involvement with common migraine.". Hum. Mol. Genet. 17 (21): 3318–31. doi:10.1093/hmg/ddn227. PMC 2566523. PMID 18676988. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2566523.

Chevalier P, Bellocq C, Millat G, et al. (2007). "Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition.". Heart rhythm : the official journal of the Heart Rhythm Society 4 (2): 170–4. doi:10.1016/j.hrthm.2006.10.004. PMID 17275752.

Kurokawa J, Bankston JR, Kaihara A, et al. (2009). "KCNE variants reveal a critical role of the beta subunit carboxyl terminus in PKA-dependent regulation of the IKs potassium channel.". Channels (Austin) 3 (1): 16–24. PMC 2773666. PMID 19077539. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2773666.

Lehtinen AB, Daniel KR, Shah SA, et al. (2009). "Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study.". Ann Noninvasive Electrocardiol 14 (1): 72–9. doi:10.1111/j.1542-474X.2008.00276.x. PMID 19149796.

Heitzmann D, Koren V, Wagner M, et al. (2007). "KCNE beta subunits determine pH sensitivity of KCNQ1 potassium channels.". Cell. Physiol. Biochem. 19 (1-4): 21–32. doi:10.1159/000099189. PMID 17310097.

Arnestad M, Crotti L, Rognum TO, et al. (2007). "Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.". Circulation 115 (3): 361–7. doi:10.1161/CIRCULATIONAHA.106.658021. PMID 17210839.

, Kathiresan S, Voight BF, et al. (2009). "Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.". Nat. Genet. 41 (3): 334–41. doi:10.1038/ng.327. PMC 2681011. PMID 19198609. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2681011.

Liu XS, Zhang M, Jiang M, et al. (2007). "Probing the interaction between KCNE2 and KCNQ1 in their transmembrane regions.". J. Membr. Biol. 216 (2-3): 117–27. doi:10.1007/s00232-007-9047-7. PMID 17676362.

Um SY, McDonald TV (2007). Valdivia, Raphael. ed. "Differential association between HERG and KCNE1 or KCNE2.". PLoS ONE 2 (9): e933. doi:10.1371/journal.pone.0000933. PMC 1978535. PMID 17895974. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1978535.

Liu WJ, Wang HT, Chen WW, et al. (2008). "Co-expression of KCNE2 and KChIP2c modulates the electrophysiological properties of Kv4.2 current in COS-7 cells.". Acta Pharmacol. Sin. 29 (6): 653–60. doi:10.1111/j.1745-7254.2008.00804.x. PMID 18501111.

Berge KE, Haugaa KH, Früh A, et al. (2008). "Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.". Scand. J. Clin. Lab. Invest. 68 (5): 362–8. doi:10.1080/00365510701765643. PMID 18752142.

Chung SK, MacCormick JM, McCulley CH, et al. (2007). "Long QT and Brugada syndrome gene mutations in New Zealand.". Heart rhythm : the official journal of the Heart Rhythm Society 4 (10): 1306–14. doi:10.1016/j.hrthm.2007.06.022. PMID 17905336.

Tester DJ, Cronk LB, Carr JL, et al. (2006). "Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results.". Heart rhythm : the official journal of the Heart Rhythm Society 3 (7): 815–21. doi:10.1016/j.hrthm.2006.03.016. PMID 16818214.

Kapplinger JD, Tester DJ, Salisbury BA, et al. (2009). "Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.". Heart rhythm : the official journal of the Heart Rhythm Society 6 (9): 1297–303. doi:10.1016/j.hrthm.2009.05.021. PMC 3049907. PMID 19716085. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3049907.

External links

GeneReviews/NIH/NCBI/UW entry on Romano-Ward Syndrome

MeSH KCNE2+protein,+human

v · Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Voltage-gated

L-type/Ca_vα (1.1, 1.2, 1.3, 1.4) · N-type/Ca_vα2.2 · P-type/Ca_vα(2.1) · Q-type/Ca_vα2.1 · R-type/Ca_vα2.3 · T-type/Ca_vα(3.1, 3.2, 3.3)
α₂δ-subunits (1, 2) · β-subunits (β1, β2, β3, β4) · γ-subunits (γ1, γ2, γ3, γ4)
Cation channels of sperm (1, 2, 3, 4) · Two-pore channel (1, 2)

Ligand-gated

Inositol trisphosphate receptor (1, 2, 3) · Ryanodine receptor (1, 2, 3)

Na⁺: Sodium channel

Constitutively active

Epithelial sodium channel (α, β, γ, δ)

Proton gated

Amiloride-sensitive cation channel (1, 2, 3, 4)

Voltage-gated

Na_vα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8, 1.9, 7A) · Na_vβ (1, 2, 3, 4)

K⁺: Potassium channel

Voltage-gated

K_vα1-6 (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8) · (2.1, 2.2) · (3.1, 3.2, 3.3, 3.4) · (4.1, 4.2, 4.3) · (5.1) · (6.1, 6.2, 6.3, 6.4)
K_vα7-12 (7.1, 7.2, 7.3, 7.4, 7.5) · (8.1, 8.2) · (9.1, 9.2, 9.3) · (10.1, 10.2) · (11.1/hERG, 11.2, 11.3) · (12.1, 12.2, 12.3)
K_vβ (1, 2, 3) · KCNIP (1, 2, 3, 4) · minK/ISK · minK/ISK-like · MiRP (1, 2, 3) · Shaker gene

Calcium-activated

BK channel (α1, β1, β2, β3, β4) · SK channel (SK1, SK2, SK3, SK4) · K_Ca (1.1, 2.1, 2.2, 2.3, 3.1, 4.1, 4.2, 5.1)

Inward-rectifier

K_ATP · K_ir (1.1, 2.1, 2.2, 2.3, 2.4, 2.6) · GIRK/K_ir (3.1, 3.2, 3.3, 3.4) · K_ir (4.1, 4.2, 5.1, 6.1, 6.2, 7.1)

Tandem pore domain

K2P (1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 13, 15, 16, 17, 18)

Other

Cl^-: Chloride channel

ANO1 · Bestrophin (1, 2) · CFTR · CLCA (1, 2, 3, 4) · CLCN (1, 2, 3, 4, 5, 6, 7, KA, KB) · CLIC (1, 2, 3, 4, 5, 6, L1) · CLNS (1A, 1B)

H⁺: Voltage-gated

HVCN1

M⁺: TRP cation channel

TRPA (1) · TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) · TRPM (1, 2, 3, 4, 5, 6, 7, 8) · TRPML (1, 2, 3) · TRPP (1, 2) · TRPV (1, 2, 3, 4, 5, 6)

Cyclic nucleotide-gated (FC)

α (1, 2, 3, 4) · β (1, 2, 3) · HCN (1, 2, 3, 4)

Porin

Aquaporin (1, 2, 3, 4, 5, 7, 8, 9) · Voltage-dependent anion channel (1, 2, 3) · General bacterial porin family

Gap junction

Connexin: A (GJA1, GJA3, GJA4, GJA5, GJA8, GJA9, GJA10) · B (GJB1, GJB2, GJB3, GJB4, GJB5, GJB6, GJB7) · C (GJC1, GJC2, GJC3) · D (GJD2, GJD3, GJD4))
Innexin

General

Ligand-gated ion channel · Voltage-gated ion channel · Stretch-activated ion channel

see also disorders
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), othr

Categories:
Human proteins
Ion channels
Chromosome 21 gene stubs

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KCNE2

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