USH2A: Difference between revisions

USH2A
Identifiers
Aliases	USH2A, RP39, US2, USH2, dJ1111A8.1, Usher syndrome 2A (autosomal recessive, mild), usherin
External IDs	OMIM: 608400; MGI: 1341292; HomoloGene: 66151; GeneCards: USH2A; OMA:USH2A - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	216,423,448 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	188,697,238 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; sperm; ; islet of Langerhans; ; testicle; ; prefrontal cortex; ; left ventricle; ; kidney; ; adrenal gland; ; kidney; ; fundus;
	Top expressed in
	spermatid; ; Jacobson's organ; ; spermatocyte; ; secondary oocyte; ; morula; ; lens; ; blastocyst; ; islet of Langerhans; ; gonad; ; male reproductive system;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein homodimerization activity; collagen binding; myosin binding; protein binding;
Cellular component	cytoplasm; stereocilium bundle; integral component of membrane; ciliary basal body; cell projection; stereocilium membrane; membrane; photoreceptor inner segment; stereocilia ankle link complex; plasma membrane; photoreceptor connecting cilium; stereocilia ankle link; extracellular region; basement membrane; USH2 complex; apical plasma membrane; periciliary membrane compartment; neuronal cell body; terminal bouton; stereocilium; synapse;
Biological process	response to stimulus; establishment of protein localization; hair cell differentiation; sensory perception of light stimulus; hearing; inner ear receptor cell differentiation; photoreceptor cell maintenance; maintenance of animal organ identity; visual perception; retina development in camera-type eye; animal organ morphogenesis; tissue development; neurogenesis;
	Sources:Amigo / QuickGO
Orthologs
	7399
	22283
	ENSG00000042781
	ENSMUSG00000026609
	O75445
	Q2QI47
	NM_206933; NM_007123
	NM_021408
	NP_009054; NP_996816
	NP_067383
	Wikidata
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Revision as of 21:23, 9 June 2008

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Usher syndrome 2A (autosomal recessive, mild), also known as USH2A, is a human gene.

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References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000042781 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026609 – Ensembl, 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.

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 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER |title=The molecular genetics of Usher syndrome. |journal=Clin. Genet. |volume=63 |issue= 6 |pages= 431-44 |year= 2004 |pmid= 12786748 |doi=  }}
+*{{cite journal  | author=Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER |title=The molecular genetics of Usher syndrome. |journal=Clin. Genet. |volume=63 |issue= 6 |pages= 431–44 |year= 2004 |pmid= 12786748 |doi=  }}
-*{{cite journal  | author=Roland FP |title=Management of atypical pneumonias in view of the new entity "Legionnaire's disease". |journal=Rhode Island medical journal |volume=61 |issue= 7 |pages= 270-2 |year= 1978 |pmid= 276901 |doi=  }}
+*{{cite journal  | author=Roland FP |title=Management of atypical pneumonias in view of the new entity "Legionnaire's disease". |journal=Rhode Island medical journal |volume=61 |issue= 7 |pages= 270–2 |year= 1978 |pmid= 276901 |doi=  }}
-*{{cite journal  | author=Eudy JD, Weston MD, Yao S, ''et al.'' |title=Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. |journal=Science |volume=280 |issue= 5370 |pages= 1753-7 |year= 1998 |pmid= 9624053 |doi=  }}
+*{{cite journal  | author=Eudy JD, Weston MD, Yao S, ''et al.'' |title=Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. |journal=Science |volume=280 |issue= 5370 |pages= 1753–7 |year= 1998 |pmid= 9624053 |doi=  }}
-*{{cite journal  | author=Liu XZ, Hope C, Liang CY, ''et al.'' |title=A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1221-5 |year= 2000 |pmid= 10090909 |doi=  }}
+*{{cite journal  | author=Liu XZ, Hope C, Liang CY, ''et al.'' |title=A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1221–5 |year= 2000 |pmid= 10090909 |doi=  }}
-*{{cite journal  | author=Weston MD, Eudy JD, Fujita S, ''et al.'' |title=Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. |journal=Am. J. Hum. Genet. |volume=66 |issue= 4 |pages= 1199-210 |year= 2000 |pmid= 10729113 |doi=  }}
+*{{cite journal  | author=Weston MD, Eudy JD, Fujita S, ''et al.'' |title=Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. |journal=Am. J. Hum. Genet. |volume=66 |issue= 4 |pages= 1199–210 |year= 2000 |pmid= 10729113 |doi=  }}
-*{{cite journal  | author=Adato A, Weston MD, Berry A, ''et al.'' |title=Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 388 |year= 2000 |pmid= 10738000 |doi= 10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N }}
+*{{cite journal  | author=Adato A, Weston MD, Berry A, ''et al.'' |title=Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 388 |year= 2000 |pmid= 10738000 |doi= 10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N |doilabel=10.1002/(SICI)1098-1004(200004)15:4&#60;388::AID-HUMU27&#62;3.0.CO;2-N }}
-*{{cite journal  | author=Rivolta C, Sweklo EA, Berson EL, Dryja TP |title=Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. |journal=Am. J. Hum. Genet. |volume=66 |issue= 6 |pages= 1975-8 |year= 2001 |pmid= 10775529 |doi=  }}
+*{{cite journal  | author=Rivolta C, Sweklo EA, Berson EL, Dryja TP |title=Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. |journal=Am. J. Hum. Genet. |volume=66 |issue= 6 |pages= 1975–8 |year= 2001 |pmid= 10775529 |doi=  }}
-*{{cite journal  | author=Dreyer B, Tranebjaerg L, Rosenberg T, ''et al.'' |title=Identification of novel USH2A mutations: implications for the structure of USH2A protein. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 7 |pages= 500-6 |year= 2000 |pmid= 10909849 |doi= 10.1038/sj.ejhg.5200491 }}
+*{{cite journal  | author=Dreyer B, Tranebjaerg L, Rosenberg T, ''et al.'' |title=Identification of novel USH2A mutations: implications for the structure of USH2A protein. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 7 |pages= 500–6 |year= 2000 |pmid= 10909849 |doi= 10.1038/sj.ejhg.5200491 }}
-*{{cite journal  | author=Leroy BP, Aragon-Martin JA, Weston MD, ''et al.'' |title=Spectrum of mutations in USH2A in British patients with Usher syndrome type II. |journal=Exp. Eye Res. |volume=72 |issue= 5 |pages= 503-9 |year= 2001 |pmid= 11311042 |doi= 10.1006/exer.2000.0978 }}
+*{{cite journal  | author=Leroy BP, Aragon-Martin JA, Weston MD, ''et al.'' |title=Spectrum of mutations in USH2A in British patients with Usher syndrome type II. |journal=Exp. Eye Res. |volume=72 |issue= 5 |pages= 503–9 |year= 2001 |pmid= 11311042 |doi= 10.1006/exer.2000.0978 }}
-*{{cite journal  | author=Dreyer B, Tranebjaerg L, Brox V, ''et al.'' |title=A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 228-34 |year= 2001 |pmid= 11402400 |doi=  }}
+*{{cite journal  | author=Dreyer B, Tranebjaerg L, Brox V, ''et al.'' |title=A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 228–34 |year= 2001 |pmid= 11402400 |doi=  }}
-*{{cite journal  | author=Bhattacharya G, Miller C, Kimberling WJ, ''et al.'' |title=Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. |journal=Hear. Res. |volume=163 |issue= 1-2 |pages= 1-11 |year= 2002 |pmid= 11788194 |doi=  }}
+*{{cite journal  | author=Bhattacharya G, Miller C, Kimberling WJ, ''et al.'' |title=Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. |journal=Hear. Res. |volume=163 |issue= 1-2 |pages= 1–11 |year= 2002 |pmid= 11788194 |doi=  }}
-*{{cite journal  | author=Nájera C, Beneyto M, Blanca J, ''et al.'' |title=Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. |journal=Hum. Mutat. |volume=20 |issue= 1 |pages= 76-7 |year= 2002 |pmid= 12112664 |doi= 10.1002/humu.9042 }}
+*{{cite journal  | author=Nájera C, Beneyto M, Blanca J, ''et al.'' |title=Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. |journal=Hum. Mutat. |volume=20 |issue= 1 |pages= 76–7 |year= 2002 |pmid= 12112664 |doi= 10.1002/humu.9042 }}
-*{{cite journal  | author=Huang D, Eudy JD, Uzvolgyi E, ''et al.'' |title=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. |journal=Genomics |volume=80 |issue= 2 |pages= 195-203 |year= 2003 |pmid= 12160733 |doi=  }}
+*{{cite journal  | author=Huang D, Eudy JD, Uzvolgyi E, ''et al.'' |title=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. |journal=Genomics |volume=80 |issue= 2 |pages= 195–203 |year= 2003 |pmid= 12160733 |doi=  }}
-*{{cite journal  | author=Rivolta C, Berson EL, Dryja TP |title=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. |journal=Arch. Ophthalmol. |volume=120 |issue= 11 |pages= 1566-71 |year= 2002 |pmid= 12427073 |doi=  }}
+*{{cite journal  | author=Rivolta C, Berson EL, Dryja TP |title=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. |journal=Arch. Ophthalmol. |volume=120 |issue= 11 |pages= 1566–71 |year= 2002 |pmid= 12427073 |doi=  }}
-*{{cite journal  | author=Pearsall N, Bhattacharya G, Wisecarver J, ''et al.'' |title=Usherin expression is highly conserved in mouse and human tissues. |journal=Hear. Res. |volume=174 |issue= 1-2 |pages= 55-63 |year= 2003 |pmid= 12433396 |doi=  }}
+*{{cite journal  | author=Pearsall N, Bhattacharya G, Wisecarver J, ''et al.'' |title=Usherin expression is highly conserved in mouse and human tissues. |journal=Hear. Res. |volume=174 |issue= 1-2 |pages= 55–63 |year= 2003 |pmid= 12433396 |doi=  }}
 *{{cite journal  | author=Bernal S, Ayuso C, Antiñolo G, ''et al.'' |title=Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. |journal=J. Med. Genet. |volume=40 |issue= 1 |pages= e8 |year= 2003 |pmid= 12525556 |doi=  }}
-*{{cite journal  | author=Bhattacharya G, Kalluri R, Orten DJ, ''et al.'' |title=A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure. |journal=J. Cell. Sci. |volume=117 |issue= Pt 2 |pages= 233-42 |year= 2004 |pmid= 14676276 |doi= 10.1242/jcs.00850 }}
+*{{cite journal  | author=Bhattacharya G, Kalluri R, Orten DJ, ''et al.'' |title=A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure. |journal=J. Cell. Sci. |volume=117 |issue= Pt 2 |pages= 233–42 |year= 2004 |pmid= 14676276 |doi= 10.1242/jcs.00850 }}
-*{{cite journal  | author=Aller E, Nájera C, Millán JM, ''et al.'' |title=Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. |journal=Eur. J. Hum. Genet. |volume=12 |issue= 5 |pages= 407-10 |year= 2004 |pmid= 14970843 |doi= 10.1038/sj.ejhg.5201138 }}
+*{{cite journal  | author=Aller E, Nájera C, Millán JM, ''et al.'' |title=Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. |journal=Eur. J. Hum. Genet. |volume=12 |issue= 5 |pages= 407–10 |year= 2004 |pmid= 14970843 |doi= 10.1038/sj.ejhg.5201138 }}
-*{{cite journal  | author=van Wijk E, Pennings RJ, te Brinke H, ''et al.'' |title=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. |journal=Am. J. Hum. Genet. |volume=74 |issue= 4 |pages= 738-44 |year= 2004 |pmid= 15015129 |doi= 10.1086/383096 }}
+*{{cite journal  | author=van Wijk E, Pennings RJ, te Brinke H, ''et al.'' |title=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. |journal=Am. J. Hum. Genet. |volume=74 |issue= 4 |pages= 738–44 |year= 2004 |pmid= 15015129 |doi= 10.1086/383096 }}
 }}
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Revision as of 21:23, 9 June 2008

References

Further reading