The GJB6 gene homepage

General information
Gene symbol	GJB6
Gene name	gap junction protein, beta 6, 30kDa
Chromosome	13
Chromosomal band	q12
Imprinted	Not imprinted
Genomic reference	NG_008323.1
Transcript reference	NM_006783.4
Exon/intron information	NM_006783.4 exon/intron table
Associated with diseases	DFNA3B, DFNB1A, DFNB1B, ECTD2, dysplasia, ectodermal, hidrotic (Christianson-Fourie type)
Citation reference(s)	-
Refseq URL	Genomic reference sequence
Curators (1)	Connexin-deafness
Total number of public variants reported	89
Unique public DNA variants reported	39
Individuals with public variants	113
Hidden variants	1
Download all this gene's data	Download all data
Notes	alias connexin 30 (cx30), EDH, HED
Date created	May 03, 2013
Date last updated	November 01, 2025
Version	GJB6:251101

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_006783.4.
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	http://www.LOVD.nl/GJB6
External URL	Connexin-deafness homepage GJB6 (connexin 30) and hearing impairment
HGNC	HGNC:4288
Entrez Gene	10804
PubMed articles	GJB6
OMIM - Gene	604418
OMIM - Diseases	DFNA3B (deafness, autosomal dominant, type 3b (DFNA-3B)) DFNB1A (deafness, autosomal recessive, type 1A (DFNB-1A, incl. di-genic)) DFNB1B (deafness, autosomal recessive, type 1b (DFNB-1B)) ECTD2 (dysplasia, ectodermal, type 2 (ECTD-2, Clouston syndrome)) dysplasia, ectodermal, hidrotic (Christianson-Fourie type)
HGMD	GJB6
GeneCards	GJB6
NIH Genetic Testing Registry	GJB6
Orphanet	GJB6

Active transcripts

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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
00024008	13	transcript variant 3	NM_006783.4	NP_006774.2	89

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 © 2013-2025. 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

GJB6 (gap junction protein, beta 6, 30kDa)