CLCN7

CLCN7
식별자
다른 이름	CLCN7, CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, chloride voltage-gated channel 7, HOD
외부 ID	OMIM: 602727 MGI: 1347048 HomoloGene: 56546 GeneCards: CLCN7
유전자 위치 (인간) 염색체 16번 염색체[1] 자리 16p13.3 시작 1,444,934 bp[1] 끝 1,475,084 bp[1]
유전자 위치 (쥐) 염색체 17번 염색체 (쥐)[2] 자리 17 A3.3|17 12.53 cM 시작 25,352,365 bp[2] 끝 25,381,078 bp[2]
RNA 발현 패턴 Bgee 인간 쥐(동원체) 최상위 발현 right adrenal cortex left adrenal cortex right hemisphere of cerebellum stromal cell of endometrium 과립구 right lobe of thyroid gland left lobe of thyroid gland 비장 뇌하수체 전엽 right frontal lobe 최상위 발현 혀의 윗면 쓸개 ganglion of vagus nerve stroma of bone marrow neural layer of retina right kidney decidua entorhinal cortex perirhinal cortex 발목관절 추가 참조 발현 데이터 BioGPS 추가 참조 발현 데이터
유전자 온톨로지 분자 함수 nucleotide binding ion channel activity antiporter activity ATP binding chloride channel activity voltage-gated chloride channel activity 단백질 결합 chloride transmembrane transporter activity transmembrane transporter activity 세포 성분 integral component of membrane 리소좀 cytoplasmic vesicle lysosomal membrane 세포막 핵질 intracellular membrane-bounded organelle 생물학적 과정 ion transmembrane transport chloride transport 이온 수송 regulation of anion transmembrane transport response to pH transmembrane transport chloride transmembrane transport 수송 출처: Amigo / QuickGO
동원체 종 인간 쥐 앙트레 1186 26373 앙상블 ENSG00000103249 ENSMUSG00000036636 유니프롯 P51798 O70496 RefSeq (mRNA) NM_001114331 NM_001287 NM_011930 NM_001317404 RefSeq(단백질) NP_001107803 NP_001278 NP_001304333 NP_036060 위치(UCSC) Chr 16: 1.44 – 1.48 Mb Chr 17: 25.35 – 25.38 Mb PubMed 검색 [3] [4]
위키데이터
인간 보기/편집 쥐 보기/편집

염화 이온 채널 7 알파 서브 유닛(Chloride Channel 7 Alpha Subunit) 또는 H⁺/Cl^- 교환 수송체 7은 인간의 CLCN7에 의해 암호화되는 유전자에서 발현되는 단백질이다.^[5] 멜라노사이트 세포에서 이 유전자는 작은 안구증 연관 전사 요소에 의해 조절된다.^[6][7]

임상적 의의

CLCN7 유전자의 돌연변이는 뼈의 희귀병인 상염색체 우성 골수증 2형과 관련이 있는 것으로 보고되었다.^[8]

참고

• 염화 이온 채널

각주

1. GRCh38: Ensembl release 89: ENSG00000103249 - 앙상블, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036636 - 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. “Entrez Gene: CLCN7 chloride channel 7”. 
6. “The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor”. 《J. Biol. Chem.》 282 (3): 1891–904. 2007. doi:10.1074/jbc.M608572200. PMID 17105730. 
7. “Novel MITF targets identified using a two-step DNA microarray strategy”. 《Pigment Cell Melanoma Res》 21 (6): 665–76. 2008. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
8. “Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology” (PDF). 《Lab. Invest.》 94 (3): 275–85. 2014. doi:10.1038/labinvest.2013.140. PMID 24336069. 

• “ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family”. 《FEBS Lett.》 377 (1): 15–20. 1996. doi:10.1016/0014-5793(95)01298-2. PMID 8543009. 
• Héon E; Piguet B; Munier F; 외. (1996). “Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21”. 《Arch. Ophthalmol.》 114 (2): 193–8. doi:10.1001/archopht.1996.01100130187014. PMID 8573024. 
• “The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression”. 《Genomics》 33 (1): 151–2. 1996. doi:10.1006/geno.1996.0177. PMID 8617505. 
• Eggermont J (1998). “The exon-intron architecture of human chloride channel genes is not conserved”. 《Biochim. Biophys. Acta》 1397 (2): 156–60. doi:10.1016/s0167-4781(98)00014-1. PMID 9565675. 
• White KE; Koller DL; Takacs I; 외. (1999). “Locus heterogeneity of autosomal dominant osteopetrosis (ADO)”. 《J. Clin. Endocrinol. Metab.》 84 (3): 1047–51. doi:10.1210/jc.84.3.1047. PMID 10084593. 
• Daniels RJ; Peden JF; Lloyd C; 외. (2001). “Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16”. 《Hum. Mol. Genet.》 10 (4): 339–52. doi:10.1093/hmg/10.4.339. PMID 11157797. 
• Kornak U; Kasper D; Bösl MR; 외. (2001). “Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man”. 《Cell》 104 (2): 205–15. doi:10.1016/S0092-8674(01)00206-9. PMID 11207362. 
• Cleiren E; Bénichou O; Van Hul E; 외. (2002). “Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene”. 《Hum. Mol. Genet.》 10 (25): 2861–7. doi:10.1093/hmg/10.25.2861. PMID 11741829. 
• Harada K; Toyooka S; Maitra A; 외. (2002). “Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines”. 《Oncogene》 21 (27): 4345–9. doi:10.1038/sj.onc.1205446. PMID 12082624. 
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• Campos-Xavier AB; Saraiva JM; Ribeiro LM; 외. (2003). “Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis”. 《Hum. Genet.》 112 (2): 186–9. doi:10.1007/s00439-002-0861-9. PMID 12522560. 
• Waguespack SG; Koller DL; White KE; 외. (2004). “Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II”. 《J. Bone Miner. Res.》 18 (8): 1513–8. doi:10.1359/jbmr.2003.18.8.1513. PMID 12929941. 
• Frattini A; Pangrazio A; Susani L; 외. (2004). “Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis”. 《J. Bone Miner. Res.》 18 (10): 1740–7. doi:10.1359/jbmr.2003.18.10.1740. PMID 14584882. 
• Ota T; Suzuki Y; Nishikawa T; 외. (2004). “Complete sequencing and characterization of 21,243 full-length human cDNAs”. 《Nat. Genet.》 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• Henriksen K; Gram J; Schaller S; 외. (2004). “Characterization of Osteoclasts from Patients Harboring a G215R Mutation in ClC-7 Causing Autosomal Dominant Osteopetrosis Type II”. 《Am. J. Pathol.》 164 (5): 1537–45. doi:10.1016/S0002-9440(10)63712-1. PMC 1615650. PMID 15111300. 
• Gerhard DS; Wagner L; Feingold EA; 외. (2004). “The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)”. 《Genome Res.》 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. 
• Köttgen M; Benzing T; Simmen T; 외. (2005). “Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation”. 《EMBO J.》 24 (4): 705–16. doi:10.1038/sj.emboj.7600566. PMC 549624. PMID 15692563. 
• Pettersson U; Albagha OM; Mirolo M; 외. (2006). “Polymorphisms of the CLCN7 gene are associated with BMD in women”. 《J. Bone Miner. Res.》 20 (11): 1960–7. doi:10.1359/JBMR.050717. PMID 16234969. 
• Kornak U; Ostertag A; Branger S; 외. (2006). “Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II”. 《J. Clin. Endocrinol. Metab.》 91 (3): 995–1000. doi:10.1210/jc.2005-2017. PMID 16368748. 
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