Kir2.1

KCNJ2
식별자
다른 이름	KCNJ2, ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3, potassium voltage-gated channel subfamily J member 2, potassium inwardly rectifying channel subfamily J member 2
외부 ID	OMIM: 600681 MGI: 104744 HomoloGene: 20249 GeneCards: KCNJ2
유전자 위치 (인간)
염색체	17번 염색체
끝	70,180,044 bp
유전자 위치 (쥐)
염색체	11번 염색체 (쥐)
끝	110,967,647 bp
RNA 발현 패턴
	최상위 발현
	미주신경 아래신경절; ; 다리뇌; ; subthalamic nucleus; ; 뇌량; ; superior vestibular nucleus; ; inferior olivary nucleus; ; body of tongue; ; 가쪽넓은근; ; 삼각근; ; 배쪽 피개부;
	최상위 발현
	superior frontal gyrus; ; 입술; ; 관자근; ; 식도; ; upper arm; ; membranous bone; ; 위턱뼈; ; mandibles; ; 심실중격; ; 골격근 조직;
	추가 참조 발현 데이터
	추가 참조 발현 데이터
유전자 온톨로지
분자 함수	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; voltage-gated ion channel activity; identical protein binding; phosphatidylinositol-4,5-bisphosphate binding; inward rectifier potassium channel activity; G-protein activated inward rectifier potassium channel activity;
세포 성분	integral component of membrane; rough endoplasmic reticulum; 골지체; 세포막; 사이원반; T세관; voltage-gated potassium channel complex; 세포막; dendritic spine; integral component of plasma membrane; smooth endoplasmic reticulum; neuronal cell body; 수상돌기; intrinsic component of membrane;
생물학적 과정	cardiac muscle cell action potential; regulation of ion transmembrane transport; magnesium ion transport; cardiac muscle cell action potential involved in contraction; 이온 수송; cellular potassium ion homeostasis; potassium ion transport; regulation of cardiac muscle cell contraction; cellular response to mechanical stimulus; membrane repolarization during action potential; potassium ion transmembrane transport; positive regulation of potassium ion transmembrane transport; regulation of skeletal muscle contraction via regulation of action potential; regulation of resting membrane potential; regulation of membrane repolarization; relaxation of skeletal muscle; regulation of heart rate by cardiac conduction; membrane repolarization during cardiac muscle cell action potential; protein homotetramerization; relaxation of cardiac muscle; membrane depolarization during cardiac muscle cell action potential; potassium ion import across plasma membrane; cardiac conduction;
	출처: Amigo / QuickGO
동원체
	3759
	16518
	ENSG00000123700
	ENSMUSG00000041695
	P63252
	P35561
	NM_000891
	NM_008425
	NP_000882
	NP_032451
	위키데이터
인간 보기/편집	쥐 보기/편집

K_ir2.1 내향성 칼륨 통로는 KCNJ2 유전자에 의해 암호화된 지질 게이트 통로(lipid-gated ion channel)이다.^[5]^[6]^[7]^[8]

임상적 의의 편집

이 유전자의 결함은 안데르센-타윌 증후군과 관련이 있다.^[9]

KCNJ2 유전자의 돌연변이는 짧은 QT 증후군을 일으키는 것으로 나타났다.^[10]

연구 중 편집

신경유전학에서 K_ir2.1은 Drosophila 연구에서 뉴런을 억제하는 데 사용된다.

광유전학에서, K_ir2.1의 트래피킹 서열은 막 위치를 개선하기 위해 할로로돕신에 추가되었다. 생성 된 단백질 eNpHR3.0은 빛으로 뉴런을 억제하기 위해 광유전 연구에 사용된다.^[11]

인간 HEK 293 세포에서 K_ir2.1 유전자의 발현은 일시적인 외부 전류를 유도하여 칼륨의 반전 전위에 가까운 일정한 막 전위를 생성한다.^[12]

상호 작용 편집

K_ir2.1은 다음과 상호 작용하는 것으로 나타났다.

DLG4^[13]
인터루킨 16^[14]
TRAK2^[15]

각주 편집

↑ ^가 ^나 ^다 GRCh38: Ensembl release 89: ENSG00000123700 - 앙상블, May 2017
↑ ^가 ^나 ^다 GRCm38: Ensembl release 89: ENSMUSG00000041695 - 앙상블, May 2017
↑ “Human PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》.
↑ “Mouse PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》.
↑ Hansen, SB (May 2015). “Lipid agonism: The PIP2 paradigm of ligand-gated ion channels.”. 《Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids》 1851 (5): 620–8. doi:10.1016/j.bbalip.2015.01.011. PMC 4540326. PMID 25633344.
↑ “Molecular cloning and expression of a human heart inward rectifier potassium channel”. 《NeuroReport》 5 (18): 2501–5. 1994. doi:10.1097/00001756-199412000-00024. PMID 7696590.
↑ “Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits”. 《FEBS Lett.》 491 (3): 305–11. 2001. doi:10.1016/S0014-5793(01)02202-5. PMID 11240146.
↑ “International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels”. 《Pharmacol. Rev.》 57 (4): 509–26. 2005. doi:10.1124/pr.57.4.11. PMID 16382105.
↑ “Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity”. 《Ann. Med.》. 36 Suppl 1: 92–7. 2004. doi:10.1080/17431380410032490. PMID 15176430.
↑ “A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene”. 《Circ. Res.》 96 (7): 800–7. April 2005. doi:10.1161/01.RES.0000162101.76263.8c. PMID 15761194.
↑ “Molecular and cellular approaches for diversifying and extending optogenetics”. 《Cell》 141 (1): 154–65. April 2010. doi:10.1016/j.cell.2010.02.037. PMC 4160532. PMID 20303157.
↑ Zhang, De-Yong; Lau, Chu-Pak; Li, Gui-Rong (2009년 4월 1일). “Human Kir2.1 channel carries a transient outward potassium current with inward rectification”. 《Pflügers Archiv: European Journal of Physiology》 457 (6): 1275–1285. doi:10.1007/s00424-008-0608-0. ISSN 1432-2013. PMID 19002489.
↑ “Neuronal inwardly rectifying K(+) channels differentially couple to PDZ proteins of the PSD-95/SAP90 family”. 《J. Neurosci.》 20 (1): 156–62. 2000. doi:10.1523/JNEUROSCI.20-01-00156.2000. PMC 6774109. PMID 10627592.
↑ “Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein”. 《J. Neurosci.》 19 (18): 7770–80. 1999. doi:10.1523/JNEUROSCI.19-18-07770.1999. PMC 6782450. PMID 10479680.
↑ “Identification of gamma-aminobutyric acid receptor-interacting factor 1 (TRAK2) as a trafficking factor for the K+ channel Kir2.1”. 《J. Biol. Chem.》 281 (40): 30104–11. 2006. doi:10.1074/jbc.M602439200. PMID 16895905.

[refGRCh38Ensembl-1] 가 ^나 ^다 GRCh38: Ensembl release 89: ENSG00000123700 - 앙상블, May 2017

[refGRCm38Ensembl-2] 가 ^나 ^다 GRCm38: Ensembl release 89: ENSMUSG00000041695 - 앙상블, May 2017

[3] “Human PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》.

[4] “Mouse PubMed Reference:”. 《National Center for Biotechnology Information, U.S. National Library of Medicine》.

[5] Hansen, SB (May 2015). “Lipid agonism: The PIP2 paradigm of ligand-gated ion channels.”. 《Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids》 1851 (5): 620–8. doi:10.1016/j.bbalip.2015.01.011. PMC 4540326. PMID 25633344.

[pmid7696590-6] “Molecular cloning and expression of a human heart inward rectifier potassium channel”. 《NeuroReport》 5 (18): 2501–5. 1994. doi:10.1097/00001756-199412000-00024. PMID 7696590.

[pmid11240146-7] “Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits”. 《FEBS Lett.》 491 (3): 305–11. 2001. doi:10.1016/S0014-5793(01)02202-5. PMID 11240146.

[pmid16382105-8] “International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels”. 《Pharmacol. Rev.》 57 (4): 509–26. 2005. doi:10.1124/pr.57.4.11. PMID 16382105.

[pmid15176430-9] “Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity”. 《Ann. Med.》. 36 Suppl 1: 92–7. 2004. doi:10.1080/17431380410032490. PMID 15176430.

[pmid15761194-10] “A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene”. 《Circ. Res.》 96 (7): 800–7. April 2005. doi:10.1161/01.RES.0000162101.76263.8c. PMID 15761194.

[pmid20303157-11] “Molecular and cellular approaches for diversifying and extending optogenetics”. 《Cell》 141 (1): 154–65. April 2010. doi:10.1016/j.cell.2010.02.037. PMC 4160532. PMID 20303157.

[12] Zhang, De-Yong; Lau, Chu-Pak; Li, Gui-Rong (2009년 4월 1일). “Human Kir2.1 channel carries a transient outward potassium current with inward rectification”. 《Pflügers Archiv: European Journal of Physiology》 457 (6): 1275–1285. doi:10.1007/s00424-008-0608-0. ISSN 1432-2013. PMID 19002489.

[pmid10627592-13] “Neuronal inwardly rectifying K(+) channels differentially couple to PDZ proteins of the PSD-95/SAP90 family”. 《J. Neurosci.》 20 (1): 156–62. 2000. doi:10.1523/JNEUROSCI.20-01-00156.2000. PMC 6774109. PMID 10627592.

[pmid10479680-14] “Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein”. 《J. Neurosci.》 19 (18): 7770–80. 1999. doi:10.1523/JNEUROSCI.19-18-07770.1999. PMC 6782450. PMID 10479680.

[pmid16895905-15] “Identification of gamma-aminobutyric acid receptor-interacting factor 1 (TRAK2) as a trafficking factor for the K+ channel Kir2.1”. 《J. Biol. Chem.》 281 (40): 30104–11. 2006. doi:10.1074/jbc.M602439200. PMID 16895905.

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