CDH23

CDH23
사용 가능한 구조물
PDB	직교 검색: PDBe RCSB
PDB ID 코드 목록
	2KBR, 2KBS, 2LSR
식별자
별칭	CDH23, CDHR23, USH1D, 캐더린 관련 23, 캐더린 관련 23, PITA5
외부 ID	OMIM: 605516 MGI: 1890219 호몰로진: 11142 GeneCard: CDH23
유전자 위치(인간)
쳇.	10번 염색체(인간)
끝	7181만5947bp
유전자 위치(마우스)
쳇.	10번 염색체(쥐)
끝	60,532,269 bp
RNA 표현 패턴
	표현된 상단
	간 우엽; ; 단모세포; ; 수근신경; ; 왼쪽 자궁관; ; 핏덩어리; ; 오른쪽 폐; ; 강리온의 명성; ; 췌장체; ; 좌측 폐 상부엽; ; 시상하부;
	추가 참조 표현식 데이터
	; ; ; ;
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	금속 이온 결합; 칼슘 이온 결합; GO:0001948 단백질 결합;
셀룰러 컴포넌트	플라즈마 막; 막으로 막다; 스테레오실륨; 막의 적분 성분;
생물학적 과정	평형감각; 칼슘 이온 수송; 혈장 막 접착 분자를 통한 균질 세포 접착; 광수용체 세포 유지; 내이 수용체 세포 스테레오실륨 조직; 기관차적인 행동; 시각적 지각; 빛 자극에 대한 감각적 지각; 플라즈마 막 세포 접착 분자를 통한 칼슘 함유 세포-세포 접착; 자극에 대한 반응; 세포질 칼슘 이온 농도 조절; 세포 접착; 소리의 감각적 지각;
	출처:아미고 / 퀵고
직교체
	64072
	22295
	ENSG00000107736
	ENSMUSG00000012819
	Q9H251; Q6P152
	Q99PF4
NM_001171930; NM_001171931; NM_001171932; NM_001171933; NM_001171934;
	NM_001171935; NM_001171936; NM_022124; NM_052836
	NM_001252635; NM_023370
NP_001165401; NP_001165402; NP_001165403; NP_001165404; NP_001165405;
	NP_001165406; NP_001165407; NP_071407; NP_443068; NP_001165401.1; NP_071407.4
	NP_001239564; NP_075859
	위키다타
인간 보기/편집	마우스 보기/편집

캐더린-23은 인간에게 CDH23 유전자에 의해 암호화된 단백질이다.^[5]^[6]^[7]

함수

이 유전자는 캐더린 슈퍼 패밀리의 일원으로 칼슘 의존 세포 접착 당단백질을 암호화하는 유전자다.이 유전자에 의해 인코딩된 단백질은 캐더린 엑토도마인에게 중요한 동질성을 보이는 27개의 반복을 포함하는 세포외 영역으로 구성된 큰 단일 패스 트랜스메레인 단백질이다.신경감 상피에 표현된 이 단백질은 입체적인 조직과 머리카락 다발 형성에 관여하는 것으로 생각된다.구체적으로는 프로토카데린 15와 상호 작용하여 팁 링크 필라멘트를 형성하는 것으로 생각된다.^[8]

임상적 유의성

이 유전자는 인간의 청각장애 위치 DFNB12와 USH1D를 포함하는 지역에 위치한다.어셔증후군 1D와 비정형 자기 발열성 청각장애 DFNB12는 이 새로운 캐더린 유사 유전자의 알레르기가 돌연변이에 의해 발생한다.^[7]^[9]그 유전자는 신장 기능 저하와 관련이 있다.^[10]

상호작용

CDH23은 USH1C와 상호작용하는 것으로 나타났다.^[11]^[12]

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000107736 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG000012819 - 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.
^ Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C (2001). "Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D". Nature Genetics. 27 (1): 108–12. doi:10.1038/83667. PMID 11138009. S2CID 30614281.
^ Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001). "Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23". The American Journal of Human Genetics. 68 (1): 26–37. doi:10.1086/316954. PMC 1234923. PMID 11090341.
^ ^a ^b 엔트레스제네 64072
^ Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B (2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature. 449 (7158): 87–91. doi:10.1038/nature06091. PMID 17805295. S2CID 4414814.
^ Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK (2014). "Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing". BMC Medical Genetics. 15 (1): 46. doi:10.1186/1471-2350-15-46. PMC 4036425. PMID 24767429.
^ Gorski M, Tin A, Garnaas M, et al. (2015). "Genome-wide association study of kidney function decline in individuals of European descent". Kidney Int. 87 (5): 1017–29. doi:10.1038/ki.2014.361. PMC 4425568. PMID 25493955.
^ Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (2002). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". The EMBO Journal. 21 (24): 6689–99. doi:10.1093/emboj/cdf689. PMC 139109. PMID 12485990.
^ Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences. 99 (23): 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.

추가 읽기

McHugh RK, Friedman RA (2006). "Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum". The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology. 288A (4): 370–81. doi:10.1002/ar.a.20297. PMID 16550584.
Marres HA, Cremers CW (1989). "Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers". Archives of Otolaryngology–Head & Neck Surgery. 115 (5): 591–5. doi:10.1001/archotol.1989.01860290049013. PMID 2706105.
Chaib H, Place C, Salem N, Dodé C, Chardenoux S, Weissenbach J, el Zir E, Loiselet J, Petit C (1996). "Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22". Human Molecular Genetics. 5 (7): 1061–4. doi:10.1093/hmg/5.7.1061. PMID 8817348.
Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ (1996). "Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10". Human Molecular Genetics. 5 (10): 1689–92. doi:10.1093/hmg/5.10.1689. PMID 8894709.
Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K (2001). "Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D". Nature Genetics. 27 (1): 103–7. doi:10.1038/83660. PMID 11138008. S2CID 7284406.
Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (2001). "Prediction of the Coding Sequences of Unidentified Human Genes. XX. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitro". DNA Research. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
Wilson SM, Householder DB, Coppola V, Tessarollo L, Fritzsch B, Lee EC, Goss D, Carlson GA, Copeland NG, Jenkins NA (2001). "Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice". Genomics. 74 (2): 228–33. doi:10.1006/geno.2001.6554. PMID 11386759.
Nakajima D, Nakayama M, Kikuno R, Hirosawa M, Nagase T, Ohara O (2001). "Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs". Molecular Brain Research. 94 (1–2): 85–95. doi:10.1016/S0169-328X(01)00218-2. PMID 11597768.
von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A (2002). "Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D". Human Mutation. 19 (3): 268–73. doi:10.1002/humu.10049. PMID 11857743. S2CID 24156599.
Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ (2002). "CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness". The American Journal of Human Genetics. 71 (2): 262–75. doi:10.1086/341558. PMC 379159. PMID 12075507.
Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences. 99 (23): 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.
de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H (February 2003). "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family". Hum. Genet. 112 (2): 156–63. doi:10.1007/s00439-002-0833-0. PMID 12522556. S2CID 310717.
Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C (2003). "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin". Human Molecular Genetics. 12 (5): 463–71. doi:10.1093/hmg/ddg051. PMID 12588794.

외부 링크

UCSC 게놈 브라우저의 인간 CDH23 게놈 위치 및 CDH23 유전자 세부 정보 페이지.

인간 염색체 10번 유전자에 관한 이 기사는 단조롭다.위키피디아를 확장하여 도울 수 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000107736 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG000012819 - 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.

[5] Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C (2001). "Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D". Nature Genetics. 27 (1): 108–12. doi:10.1038/83667. PMID 11138009. S2CID 30614281.

[pmid11090341-6] Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001). "Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23". The American Journal of Human Genetics. 68 (1): 26–37. doi:10.1086/316954. PMC 1234923. PMID 11090341.

[entrez-7] 엔트레스제네 64072

[8] Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B (2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature. 449 (7158): 87–91. doi:10.1038/nature06091. PMID 17805295. S2CID 4414814.

[9] Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK (2014). "Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing". BMC Medical Genetics. 15 (1): 46. doi:10.1186/1471-2350-15-46. PMC 4036425. PMID 24767429.

[10] Gorski M, Tin A, Garnaas M, et al. (2015). "Genome-wide association study of kidney function decline in individuals of European descent". Kidney Int. 87 (5): 1017–29. doi:10.1038/ki.2014.361. PMC 4425568. PMID 25493955.

[pmid12485990-11] Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (2002). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". The EMBO Journal. 21 (24): 6689–99. doi:10.1093/emboj/cdf689. PMC 139109. PMID 12485990.

[pmid12407180-12] Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences. 99 (23): 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.

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CDH23

네임스페이스

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목차

함수

임상적 유의성

상호작용

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