The PAX6 gene homepage

General information
Gene symbol	PAX6
Gene name	paired box 6
Chromosome	11
Chromosomal band	p13
Imprinted	Unknown
Genomic reference	NG_008679.1
Transcript reference	NM_000280.3, NM_000280.4, NM_001127612.1, NM_001258462.1, NM_001258463.1, NM_001258464.1, NM_001258465.1, NM_001604.5
Associated with diseases	AN, ID, Peters, WAGR, WAGRO, aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Coloboma of optic disc, Foveal hypoplasia and presenile cataract syndrome, hypoplasia, optic nerve, bilateral, keratitis, hereditary
Citation reference(s)	-
Curators (1)	Johan T. den Dunnen
Total number of public variants reported	64
Unique public DNA variants reported	9
Individuals with public variants	33
Hidden variants	57
Date created	October 30, 2013
Date last updated	September 28, 2016
Version	PAX6:160928

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
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
External URL	List of LSDBs for this gene The reference LOVD for this gene, if available
HGNC	HGNC:8620
Entrez Gene	5080
PubMed articles	PAX6
OMIM - Gene	607108
OMIM - Diseases	AN (aniridia, congenital (AN)) Peters (Peters anomaly) WAGR (Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome (WAGR, 11p partial monosomy syndrome)) aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome) Coloboma of optic disc Foveal hypoplasia and presenile cataract syndrome hypoplasia, optic nerve, bilateral keratitis, hereditary
HGMD	PAX6
GeneCards	PAX6
GeneTests	PAX6

Active transcripts

Legend

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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'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00018620	11	Manually created transcript. (expired, new version available)	NM_000280.4	-	64
00018621	11	Manually created transcript.	NM_001127612.1	-	64
00018622	11	Manually created transcript. (removed from reference sequence)	NM_001258462.1	-	64
00018623	11	Manually created transcript. (removed from reference sequence)	NM_001258463.1	-	64
00018624	11	Manually created transcript. (removed from reference sequence)	NM_001258464.1	-	64
00018625	11	Manually created transcript. (removed from reference sequence)	NM_001258465.1	-	64
00018626	11	Manually created transcript. (expired, new version available)	NM_001604.5	-	64
00005569	11	transcript variant 1	NM_000280.3	NP_000271.1	-

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 © 2013-2026. 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.

MyGenome LOVD - This database is for training purposes only

PAX6 (paired box 6)