The USH2A gene homepage

This database is one of the ”Retinal and hearing impairment genetic variant databases”.

General information
Gene symbol	USH2A
Gene name	Usher syndrome 2A (autosomal recessive, mild)
Chromosome	1
Chromosomal band	q41
Imprinted	Unknown
Genomic reference	NG_009497.2
Transcript reference	NM_206933.2
Exon/intron information	NM_206933.2 exon/intron table
Associated with diseases	RP39, USH, USH2, USH2A, retinal disease
Citation reference(s)	PubMed: Roux 2011
Refseq URL	Genomic reference sequence
Curators (1)	David Baux
Total number of public variants reported	17117
Unique public DNA variants reported	2648
Individuals with public variants	16222
Hidden variants	432
Notes	The database is curated by the Montpellier Usher group. You can directly access the USH2A database using: www.LOVD.nl/USH2A If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful! This database is one of the ”Retinal and hearing impairment genetic variant databases”. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. All variants classified as SUMMARY RECORD have been extensively assessed by Dr. Luke Mansard.
Date created	February 12, 2010
Date last updated	February 26, 2024
Version	USH2A:240226

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
Reading frame checker	The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_206933.2.
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL	https://www.LOVD.nl/USH2A
External URL	KMeyeDB USMA (Usher Syndrome Missense Analysis) Deafness Variation Database MoBiDiC
HGNC	12601
Entrez Gene	7399
PubMed articles	USH2A
OMIM - Gene	608400
OMIM - Diseases	RP39 (retinitis pigmentosa, type 39 (RP39)) USH2A (Usher syndrome,, type 2A (USH2A))
HGMD	USH2A
GeneCards	USH2A
GeneTests	USH2A
Orphanet	USH2A

Active transcripts

Legend

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How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000008	1	Usher syndrome 2A (autosomal recessive, mild), transcript variant 2	NM_206933.2	NP_996816.2	17117

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases. We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.

Global Variome shared LOVD

USH2A (Usher syndrome 2A (autosomal recessive, mild))