USH2A

USH2A
식별자
에일리어스	USH2A, RP39, US2, USH2, dJ111A8.1, 어셔증후군 2A(자염색체 열성, 온화), 어셔린
외부 ID	OMIM : 608400 MGI : 1341292 HomoloGene : 66151 GenCard : USH2A
유전자 위치(인간)
크르.	1번 염색체(인간)
끝.	216,423,448 bp
유전자 위치(마우스)
크르.	1번 염색체(마우스)
끝.	188,697,238 bp
RNA발현패턴
	상단 표시 위치:
	간우엽; ; 정자; ; 랑게르한스 섬; ; 고환; ; 전전두피질; ; 좌심실; ; 신장; ; 부신; ; 신장; ; 안저;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	단백질 호모다이머화; 콜라겐 결합; 미오신 결합; GO:0001948 단백질 결합;
셀룰러 컴포넌트	세포질; 스테레오실륨다발; 막의 적분 성분; 섬모 기저체; 세포 투영; 스테레오실륨; 막; 감광체 내부 세그먼트; 입체성 발목 연결 복합체; 혈장막; 섬유를 연결하는 광수용체; 입체성 발목 링크; 세포외 영역; 기저막; USH2 복합체; 꼭대기 플라즈마막; 근막 구획; 신경세포체; 터미널 부톤; 스테레오실륨; 시냅스;
생물학적 과정	자극에 대한 반응; 단백질 국재성 확립; 모세포 분화; 빛 자극에 대한 감각 지각; 소리에 대한 감각 지각; 내이수용체세포분화; 광수용체세포유지; 동물 장기 정체성 유지; 시각 지각; 카메라형 눈의 망막 발달; 동물 기관 형태 형성; 조직 발달; 신경 발생;
	출처:아미고 / QuickGO
맞춤법
	7399
	22283
	ENSG000042781
	ENSMUSG000026609
	O75445
	Q2QI47
	NM_206933; NM_007123
	NM_021408
	NP_009054; NP_996816
	NP_067383
	위키데이터
인간 보기/편집	마우스 표시/편집

Usherin은 USH2A 유전자에 ^[5]^[6]의해 인간에게 암호화되는 단백질이다.

애븜. 2개월 전. 보기만 해도 빡치네.아개 7 lam아미닌 EGF 모티브, 펜트락신 도메인 및 다수의 피브로넥틴 타입 III 모티브.암호화된 기저막 관련 단백질은 내이와 망막의 발달과 항상성에 중요할 수 있다.이 유전자 내의 돌연변이는 어셔 증후군 타입 IIa와 관련이 있다.다른 Isoform을 인코딩하는 대체 스플라이스된 전사 변형이 ^[7]설명되었습니다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG000042781 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000026609 - 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.
^ Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J (Jul 1998). "Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa". Science. 280 (5370): 1753–7. Bibcode:1998Sci...280.1753E. doi:10.1126/science.280.5370.1753. PMID 9624053.
^ Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ (May 2000). "Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa". Am J Hum Genet. 66 (4): 1199–210. doi:10.1086/302855. PMC 1288187. PMID 10729113.
^ "Entrez Gene: USH2A Usher syndrome 2A (autosomal recessive, mild)".

추가 정보

Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin JP, Sato M, Petit C (2007). "Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning". J. Neurosci. 27 (24): 6478–88. doi:10.1523/JNEUROSCI.0342-07.2007. PMC 6672440. PMID 17567809.
Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, Li T (2007). "Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells". Proc Natl Acad Sci U S A. 104 (11): 4413–8. Bibcode:2007PNAS..104.4413L. doi:10.1073/pnas.0610950104. PMC 1838616. PMID 17360538.
Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER (2004). "The molecular genetics of Usher syndrome". Clin. Genet. 63 (6): 431–44. doi:10.1034/j.1399-0004.2003.00109.x. PMID 12786748. S2CID 21024265.
Roland FP (1978). "Management of atypical pneumonias in view of the new entity "Legionnaire's disease"". Rhode Island Medical Journal. 61 (7): 270–2. PMID 276901.
Liu XZ, Hope C, Liang CY, et al. (2000). "A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation". Am. J. Hum. Genet. 64 (4): 1221–5. doi:10.1086/302332. PMC 1377848. PMID 10090909.
Adato A, Weston MD, Berry A, et al. (2000). "Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families". Hum. Mutat. 15 (4): 388. doi:10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N. PMID 10738000.
Rivolta C, Sweklo EA, Berson EL, Dryja TP (2001). "Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss". Am. J. Hum. Genet. 66 (6): 1975–8. doi:10.1086/302926. PMC 1378039. PMID 10775529.
Dreyer B, Tranebjaerg L, Rosenberg T, et al. (2000). "Identification of novel USH2A mutations: implications for the structure of USH2A protein". Eur. J. Hum. Genet. 8 (7): 500–6. doi:10.1038/sj.ejhg.5200491. PMID 10909849.
Leroy BP, Aragon-Martin JA, Weston MD, et al. (2001). "Spectrum of mutations in USH2A in British patients with Usher syndrome type II". Exp. Eye Res. 72 (5): 503–9. doi:10.1006/exer.2000.0978. PMID 11311042.
Dreyer B, Tranebjaerg L, Brox V, et al. (2001). "A common ancestral origin of the frequent and widespread 2299delG USH2A mutation". Am. J. Hum. Genet. 69 (1): 228–34. doi:10.1086/321269. PMC 1226039. PMID 11402400.
Bhattacharya G, Miller C, Kimberling WJ, et al. (2002). "Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa". Hear. Res. 163 (1–2): 1–11. doi:10.1016/S0378-5955(01)00344-6. PMID 11788194. S2CID 25738905.
Nájera C, Beneyto M, Blanca J, et al. (2002). "Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively". Hum. Mutat. 20 (1): 76–7. doi:10.1002/humu.9042. PMID 12112664.
Huang D, Eudy JD, Uzvolgyi E, et al. (2003). "Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease". Genomics. 80 (2): 195–203. doi:10.1006/geno.2002.6823. PMID 12160733.
Rivolta C, Berson EL, Dryja TP (2002). "Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A". Arch. Ophthalmol. 120 (11): 1566–71. doi:10.1001/archopht.120.11.1566. PMID 12427073.
Pearsall N, Bhattacharya G, Wisecarver J, et al. (2003). "Usherin expression is highly conserved in mouse and human tissues". Hear. Res. 174 (1–2): 55–63. doi:10.1016/S0378-5955(02)00635-4. PMID 12433396. S2CID 31139976.
Bernal S, Ayuso C, Antiñolo G, et al. (2003). "Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation". J. Med. Genet. 40 (1): 8e–8. doi:10.1136/jmg.40.1.e8. PMC 1735247. PMID 12525556.
Bhattacharya G, Kalluri R, Orten DJ, et al. (2004). "A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure". J. Cell Sci. 117 (Pt 2): 233–42. doi:10.1242/jcs.00850. PMID 14676276.
Aller E, Nájera C, Millán JM, et al. (2004). "Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments". Eur. J. Hum. Genet. 12 (5): 407–10. doi:10.1038/sj.ejhg.5201138. PMID 14970843.
van Wijk E, Pennings RJ, te Brinke H, et al. (2004). "Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II". Am. J. Hum. Genet. 74 (4): 738–44. doi:10.1086/383096. PMC 1181950. PMID 15015129.

외부 링크

Usher Syndrome Type II에 대한 Gene Reviews/NCBI/NIH/UW 엔트리

인간 염색체 1번 유전자에 대한 이 기사는 뭉툭한 것이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG000042781 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000026609 - 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.

[pmid9624053-5] Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J (Jul 1998). "Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa". Science. 280 (5370): 1753–7. Bibcode:1998Sci...280.1753E. doi:10.1126/science.280.5370.1753. PMID 9624053.

[pmid10729113-6] Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ (May 2000). "Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa". Am J Hum Genet. 66 (4): 1199–210. doi:10.1086/302855. PMC 1288187. PMID 10729113.

[entrez-7] "Entrez Gene: USH2A Usher syndrome 2A (autosomal recessive, mild)".

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USH2A

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