CLCN2

CLCN2
식별자
별칭	CLCN2, CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGI3, EGM6, EJM8, LKPAT, CLC-2, 염화물 전압 게이트 채널 2, HALD2
외부 ID	OMIM: 600570 MGI: 105061 호몰로진: 3213 GeneCard: CLCN2
유전자 위치(인간)
쳇.	3번 염색체(인간)
끝	184,361,196 bp
유전자 위치(마우스)
쳇.	16번 염색체(쥐)
끝	20,536,496 bp
RNA 표현 패턴
	표현된 상단
	수근신경; ; 경골 신경; ; 소뇌반구; ; 횡결장;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	전압 게이트 이온 채널 활성; 염화 채널 활성; 전압 게이트 염화물 채널 활성; GO:0001948 단백질 결합;
셀룰러 컴포넌트	막의 적분 성분; 플라즈마 막; 막으로 막다; 염화 채널 복합체; 플라스마 막의 적분 성분;
생물학적 과정	침샘 발달에 관여하는 세포 분화; 이온 트랜섬브레인 수송; 염화 수송; 이온 투과형 수송의 규제; 이온 수송; 카메라형 눈의 망막 발달; 트랜스엠브레인 수송; 염화물 투과형 운송; 알도스테론 생합성 공정의 규제;
	출처:아미고 / 퀵고
직교체
	1181
	12724
	ENSG00000114859
	ENSMUSG00000022843
	P51788
	Q9R0A1
	NM_001171087; NM_001171088; NM_001171089; NM_004366
	NM_009900
	NP_001164558; NP_001164559; NP_001164560; NP_004357
	NP_034030
	위키다타
인간 보기/편집	마우스 보기/편집

염화 채널 단백질 2는 인간에게 CLCN2 유전자에 의해 암호화된 단백질이다.^[5]^[6]이 유전자의 돌연변이는 백혈구 뇌병증과^[7] 특발성 간질증(OMIM: 600699)을 유발하는 것으로 밝혀졌지만,^[8] 후자의 주장은 논란이 되고 있다.^[9]CLCN2에는 CBS 도메인의 세포 내 복제 두 개뿐만 아니라 염화물 이온 운송에 관련된 투과성 부위가 포함되어 있다.

참고 항목

염화 통로

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000114859 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG00000022843 - 앙상블, 2017년 5월
^ "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.
^ Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR (March 1995). "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues". Human Molecular Genetics. 4 (3): 407–13. doi:10.1093/hmg/4.3.407. PMID 7795595.
^ "Entrez Gene: CLCN2 chloride channel 2".
^ Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, et al. (July 2013). "Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study". The Lancet. Neurology. 12 (7): 659–68. doi:10.1016/S1474-4422(13)70053-X. hdl:11858/00-001M-0000-0018-F3BD-9. PMID 23707145. S2CID 16634353.
^ Combi R, Grioni D, Contri M, Redaelli S, Redaelli F, Bassi MT, et al. (April 2009). "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy". Brain Research Bulletin. 79 (2): 89–96. doi:10.1016/j.brainresbull.2009.01.008. PMID 19200853. S2CID 3036929.
^ Niemeyer MI, Cid LP, Sepúlveda FV, Blanz J, Auberson M, Jentsch TJ (January 2010). "No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy". Nature Genetics. 42 (1): 3. doi:10.1038/ng0110-3. PMID 20037607.

추가 읽기

Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC (March 1999). "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". Journal of Molecular and Cellular Cardiology. 31 (3): 657–66. doi:10.1006/jmcc.1998.0901. PMID 10198195.
Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, et al. (June 2000). "Genome search for susceptibility loci of common idiopathic generalised epilepsies". Human Molecular Genetics. 9 (10): 1465–72. doi:10.1093/hmg/9.10.1465. PMID 10888596.
Lamb FS, Graeff RW, Clayton GH, Smith RL, Schutte BC, McCray PB (April 2001). "Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium". American Journal of Respiratory Cell and Molecular Biology. 24 (4): 376–81. doi:10.1165/ajrcmb.24.4.4114. PMID 11306429.
Lipecka J, Bali M, Thomas A, Fanen P, Edelman A, Fritsch J (April 2002). "Distribution of ClC-2 chloride channel in rat and human epithelial tissues". American Journal of Physiology. Cell Physiology. 282 (4): C805-16. doi:10.1152/ajpcell.00291.2001. PMID 11880269.
Nehrke K, Arreola J, Nguyen HV, Pilato J, Richardson L, Okunade G, et al. (June 2002). "Loss of hyperpolarization-activated Cl(-) current in salivary acinar cells from Clcn2 knockout mice". The Journal of Biological Chemistry. 277 (26): 23604–11. doi:10.1074/jbc.M202900200. PMID 11976342.
Dhani SU, Mohammad-Panah R, Ahmed N, Ackerley C, Ramjeesingh M, Bear CE (May 2003). "Evidence for a functional interaction between the ClC-2 chloride channel and the retrograde motor dynein complex". The Journal of Biological Chemistry. 278 (18): 16262–70. doi:10.1074/jbc.M209828200. PMID 12601004.
Olsen ML, Schade S, Lyons SA, Amaral MD, Sontheimer H (July 2003). "Expression of voltage-gated chloride channels in human glioma cells". The Journal of Neuroscience. 23 (13): 5572–82. doi:10.1523/JNEUROSCI.23-13-05572.2003. PMC 6741216. PMID 12843258.
Cuppoletti J, Tewari KP, Sherry AM, Ferrante CJ, Malinowska DH (May 2004). "Sites of protein kinase A activation of the human ClC-2 Cl(-) channel". The Journal of Biological Chemistry. 279 (21): 21849–56. doi:10.1074/jbc.M312567200. PMID 15010473.
Niemeyer MI, Yusef YR, Cornejo I, Flores CA, Sepúlveda FV, Cid LP (September 2004). "Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies". Physiological Genomics. 19 (1): 74–83. doi:10.1152/physiolgenomics.00070.2004. hdl:10533/175595. PMID 15252188.
Huber SM, Duranton C, Henke G, Van De Sand C, Heussler V, Shumilina E, et al. (October 2004). "Plasmodium induces swelling-activated ClC-2 anion channels in the host erythrocyte". The Journal of Biological Chemistry. 279 (40): 41444–52. doi:10.1074/jbc.M407618200. PMID 15272009.
Hori K, Takahashi Y, Horikawa N, Furukawa T, Tsukada K, Takeguchi N, Sakai H (September 2004). "Is the ClC-2 chloride channel involved in the Cl- secretory mechanism of gastric parietal cells?". FEBS Letters. 575 (1–3): 105–8. doi:10.1016/j.febslet.2004.08.044. PMID 15388342. S2CID 13755479.
Chu S, Blaisdell CJ, Bamford P, Ferro TJ (November 2004). "Interferon-gamma regulates ClC-2 chloride channel in lung epithelial cells". Biochemical and Biophysical Research Communications. 324 (1): 31–9. doi:10.1016/j.bbrc.2004.09.026. PMID 15464978.
D'Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, et al. (October 2004). "Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy". Neurology. 63 (8): 1500–2. doi:10.1212/01.wnl.0000142093.94998.1a. PMID 15505175. S2CID 46730230.
Blaisdell CJ, Howard TD, Stern A, Bamford P, Bleecker ER, Stine OC (October 2004). "CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity". BMC Medical Genetics. 5: 26. doi:10.1186/1471-2350-5-26. PMC 526769. PMID 15507145.
Heils A (2004). "CLCN2 and idiopathic generalized epilepsy". Advances in Neurology. 95: 265–71. PMID 15508929.
Hinzpeter A, Lipecka J, Brouillard F, Baudoin-Legros M, Dadlez M, Edelman A, Fritsch J (January 2006). "Association between Hsp90 and the ClC-2 chloride channel upregulates channel function". American Journal of Physiology. Cell Physiology. 290 (1): C45-56. CiteSeerX 10.1.1.533.5601. doi:10.1152/ajpcell.00209.2005. PMID 16049054.

외부 링크

CLCN2+단백질,+인간, 미국 국립 의학 도서관의 의학 과목 제목(MesH)
UCSC 게놈 브라우저의 인간 CLCN2 게놈 위치 및 CLCN2 유전자 세부 정보 페이지.

이 기사는 공공영역에 있는 미국 국립 의학 도서관의 텍스트를 통합하고 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000114859 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG00000022843 - 앙상블, 2017년 5월

[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.

[pmid7795595-5] Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR (March 1995). "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues". Human Molecular Genetics. 4 (3): 407–13. doi:10.1093/hmg/4.3.407. PMID 7795595.

[entrez-6] "Entrez Gene: CLCN2 chloride channel 2".

[7] Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, et al. (July 2013). "Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study". The Lancet. Neurology. 12 (7): 659–68. doi:10.1016/S1474-4422(13)70053-X. hdl:11858/00-001M-0000-0018-F3BD-9. PMID 23707145. S2CID 16634353.

[pmid19200853-8] Combi R, Grioni D, Contri M, Redaelli S, Redaelli F, Bassi MT, et al. (April 2009). "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy". Brain Research Bulletin. 79 (2): 89–96. doi:10.1016/j.brainresbull.2009.01.008. PMID 19200853. S2CID 3036929.

[pmid20037607-9] Niemeyer MI, Cid LP, Sepúlveda FV, Blanz J, Auberson M, Jentsch TJ (January 2010). "No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy". Nature Genetics. 42 (1): 3. doi:10.1038/ng0110-3. PMID 20037607.

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CLCN2

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