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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GJB6 Gene

protein-coding GIFtS: 63
GCID: GC13M020796

gap junction protein, beta 6, 30kDa

(Previous names: ectodermal dysplasia 2, hidrotic (Clouston syndrome), gap...)
(Previous symbols: DFNA3, ED2)

Explore 45 diseases affiliated with
GJB6 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Gap Junction Protein, Beta 6, 30kDa¹ ²		DFNB1B² ⁵
CX30¹ ² ⁵		Gap Junction Protein, Beta 6¹
ED2¹ ² ⁵		ECTD2²
HED¹ ² ⁵		HED2²
DFNA3¹ ²		Connexin 30²
EDH¹ ²		Connexin-30³
Ectodermal Dysplasia 2, Hidrotic (Clouston Syndrome)¹ ²		Gap Junction Beta-6 Protein²
Gap Junction Protein, Beta 6 (Connexin 30)¹ ²		Connexin-30³
DFNA3B² ⁵		Cx30³

External Ids:	HGNC: 4288¹	Entrez Gene: 10804²	Ensembl: ENSG00000121742⁷	OMIM: 604418⁵	UniProtKB: O95452³

Export aliases for GJB6 gene to outside databases

Previous GC identifers: GC13M018776 GC13M014776 GC13M019726 GC13M018594 GC13M019694 GC13M001601

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GJB6:

Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by

two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane

segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N-

and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin

proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however

the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This

gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in

some families with hidrotic ectodermal dysplasia. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CXB6_HUMAN, O95452

Function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons,

through which materials of low MW diffuse from one cell to a neighboring cell

summary for GJB6:

Gap channels (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic

cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion

of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and

second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells

and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid

responses. Structurally, gap channels are composed of two hemichannels called 'connexons', which themselves

are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct

permeability, selectivity and functional properties. Pannexins are related to connexins and can also form

gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a

family of proteins called innexins form these channels. Gap channels are regulated through

post-translational modifications of the C'-terminal cytoplasmic tail and phosphorylation modulates assembly

and their physiological properties. They are continuously synthesized and degraded, allowing tissues to

rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological

processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial

electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with

human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and

cardiovascular disease.

Gene Wiki entry for GJB6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000013.10 NC_018924.1 NT_024524.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GJB6 gene promoter:
CRE-BP1 AML1a ATF-2 Sox9 GATA-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GJB6 promoter sequence

Search SABiosciences Chromatin IP Primers for GJB6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJB6

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12 Ensembl cytogenetic band: 13q12.11 HGNC cytogenetic band: 13q12

GJB6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJB6 gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13M020796: view genomic region (about GC identifiers)

Start:	20,796,101 bp from pter	End:	20,806,534 bp from pter
Size:	10,434 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CXB6_HUMAN, O95452 (See protein sequence)

Recommended Name: Gap junction beta-6 protein

Size: 261 amino acids; 30387 Da

Subunit: A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity)

Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction

Secondary accessions: B3KQN2 Q5Q1H9 Q5Q1I0 Q5Q1I1 Q5T5U0 Q8IUP0

Explore the universe of human proteins at neXtProt for GJB6: NX_O95452

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O95452

GJB6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001103689.1 NP_001103690.1 NP_001103691.1 NP_006774.2

ENSEMBL proteins:

ENSP00000241124 ENSP00000382938 ENSP00000382939 ENSP00000348521

Reactome Protein details: O95452
Human Recombinant Protein Products for GJB6:

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Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IDA	--
GO:0005921	gap junction	--	--
GO:0005922	connexon complex	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0043231	intracellular membrane-bounded organelle	IDA	--

GJB6 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GJB6 for domains About GeneDecksing

4 InterPro domains/families:

IPR000500 Connexin

IPR019570 Connexin_CCC

IPR013092 Connexin_N

IPR017990 Connexin_CS

Graphical View of Domain Structure for InterPro Entry O95452

ProtoNet protein and cluster: O95452

1 Blocks protein family: IPB013092 Connexin

UniProtKB/Swiss-Prot: CXB6_HUMAN, O95452

Similarity: Belongs to the connexin family. Beta-type (group I) subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CXB6_HUMAN, O95452

Function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons,

through which materials of low MW diffuse from one cell to a neighboring cell

Genatlas biochemistry entry for GJB6:

gap junction protein,beta six,mouse CX30 homolog,expressed in the cochlea

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

GJB6 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for GJB6:

Increased gamma-H2AX phosphory

6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Gjb6):

behavior/neurological	cardiovascular system	hearing/vestibular/ear	homeostasis/metabolism	immune system
nervous system

GJB6 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GJB6

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		hsa-miR-3163 hsa-miR-203 hsa-miR-340 hsa-miR-548c-3p
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB6

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Gap junction assembly

	Gap junction assembly	1.00			Gap junction trafficking and regulation	0.70
	Gap junction trafficking	0.74			Connexin synthesis (generic)	0.52

Membrane Trafficking

Membrane Trafficking

1.00

Signaling in Gap Junctions

Signaling in Gap Junctions

1.00

Calcium Regulation in the Cardiac Cell

Calcium Regulation in the Cardiac Cell

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for GJB6

Signaling in Gap Junctions

1 BioSystems Pathway for GJB6

Calcium Regulation in the Cardiac Cell

5 Reactome Pathways for GJB6

	Gap junction assembly
	Gap junction trafficking
	Connexin synthesis (generic)
	Membrane Trafficking
	Gap junction trafficking and regulation

GJB6 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GJB6

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

5/21 Interacting proteins for GJB6 (O95452³ ENSP00000241124⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GJB2	P29033³, ENSP00000372295⁴	I2D: score=2 STRING: ENSP00000372295
CNST	Q6PJW8³, ENSP00000355470⁴	I2D: score=1 STRING: ENSP00000355470
TJP1	Q07157³	I2D: score=1
GJA1	ENSP00000282561⁴	STRING: ENSP00000282561
GJA10	ENSP00000358358⁴	STRING: ENSP00000358358

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007154	cell communication	IEA	--
GO:0007605	sensory perception of sound	IEA	--
GO:0042471	ear morphogenesis	IEA	--

GJB6 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GJB6 available from Tocris Bioscience About this table

Compound	Action	CAS #
Gap 26	Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release	[197250-15-0]
Gap 27	Selective gap junction blocker	[198284-64-9]

Search CenterWatch for drugs/clinical trials and news about GJB6 / CXB6

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GJB6 gene (4 alternative transcripts):

NM_001110219.2 NM_001110220.2 NM_001110221.2 NM_006783.4

Unigene Cluster for GJB6:

Gap junction protein, beta 6, 30kDa

Hs.511757 [show with all ESTs]

Unigene Representative Sequence: NM_001110219

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000241124(uc001umz.4) ENST00000400065 ENST00000400066 ENST00000356192(uc001unc.4 uc001una.4 uc001und.4 uc001unb.4)

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		SwitchGear 3'UTR luciferase reporter plasmid: GJB6 3' UTR sequence

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Additional cDNA sequence:

AK075247.1 AK289592.1 AK312352.1 AY297110.1 AY789474.1 AY789475.1 AY789476.1 BC038934.1

U64469.1

6 DOTS entries:

DT.40113167 DT.99933425 DT.97827901 DT.97827902 DT.100777771 DT.95296856

24/31 AceView cDNA sequences (see all 31):

NM_006783 AY297110 BG678911 BI753411 BC038934 BM549069 BX435107 BX441414

AI694073 AK075247 AI569513 BM910179 BM927223 BE181310 CF453597 BG286709

CB985877 BG682360 BE181335 BM045089 N64339 BE185135 BF096149 BE149572

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for GJB6 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4	^	5a	·	5b	^	6a	·	6b	·	6c	·	6d	·	6e	·	6f
SP1:											-				-
SP2:											-				-
SP3:											-		-		-
SP4:									-		-		-		-
SP5:													-		-

ECgene alternative splicing isoforms for GJB6

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GJB6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATACGCTTAA

About this image

GJB6 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Lung

Respiratory Bronchioles

Basal Cells

Lung

Adipose

Body Subcutaneous White Adipose

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GJB6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GJB6

SOURCE GeneReport for Unigene cluster: Hs.511757

SABiosciences Expression via Pathway-Focused PCR Arrays including GJB6:

Cell Junction PathwayFinder in human mouse rat

Huntington's Disease in human mouse rat

Gap Junctions in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GJB6 gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GJB6¹	gap junction protein, beta 6, 30kDa	73.31(n) 73.56(a)		395771 NM_204931.1 NP_990262.1
lizard (Anolis carolinensis)	Reptilia	GJB6⁶	--	77(a)	1 → many	3(187332072-187332857)
zebrafish (Danio rerio)	Actinopterygii	cx30.3¹	connexin 30.3	61.77(n) 61.11(a)		404725 NM_212825.2 NP_997990.2

ENSEMBL Gene Tree for GJB6 (if available)
TreeFam Gene Tree for GJB6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GJB6 gene

GJB3² GJA10² GJD3² GJB4² GJB2² GJB7² GJA4² GJC1²

GJA1² GJB5² GJC2² GJA5² GJD2² GJA3² GJA8² GJA9²

GJB1²

15 SIMAP similar genes for GJB6 using alignment to 1 protein entry: CXB6_HUMAN:

GJB2 GJB1 GJB3 GJB5 GJB7 GJB4

GJA8 GJC1 GJA4 GJA1 GJA3 GJA5

GJD3 GJA9 GJC3

GJB6 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28937872^1,2	C	pathogenic	1602842(-)	`CCCAGC/TGCTGC`	8	A V	mis¹ ese³		1		NA	2
rs104894415^1,2	C	pathogenic	1603074(-)	`TCATCA/GGGGGT`	8	R G	mis¹		0	--	--	--	--
rs104894414^1,2	C	pathogenic	1603091(-)	`GGGGAC/TGCTGC`	8	T M	mis¹		0	--	--	--	--
rs111033338^1,2	C,F	probable-non-pathogenic	1602510(-)	`CTGCGT/ACTGTG`	8	/T /S	mis¹		2		NA EU	5873
rs35002004^1,2	C,F	probable-non-pathogenic	1602616(+)	`CAGGGC/TAGGTG`	8	L	syn¹		3		NA EU	5953
rs112364705^1,2		--	1601088(+)	`TCACCG/ATTCAC`	4	--	ds500¹		2		CSA WA	120
rs76179836^1,2	C,F	--	1601605(+)	`NNNNGG/AACGAG`	4	--	ut3¹		1		NA	120
rs41292217^1,2		--	1601706(+)	`CGTCTA/CCATTC`	4	--	ut3¹		0	--	--	--	--
rs112723181^1,2	F	--	1602018(+)	`AACAAC/GAGTTA`	4	--	ut3¹		3		CSA WA	122
rs104894416^1,2	C	--	1602995(-)	`CCTCGA/TGGTGG`	8	E V	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GJB6 (20796101 - 20806534 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GJB6
1 CNV: 9214
Human Gene Mutation Database (HGMD): GJB6

Locus Specific Mutation Databases (LSDB): GJB6

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GJB6 for disorders           About GeneDecksing

OMIM gene information: 604418
OMIM disorders: 612643  129500  612645  220290
UniProtKB/Swiss-Prot: CXB6_HUMAN, O95452

Defects in GJB6 are the cause of ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]. Ectodermal

dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures.

ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities,

hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is

a frequent features. Hearing impairment has been detected in few cases of ECTD2

Defects in GJB6 are the cause of deafness autosomal recessive type 1B (DFNB1B) [MIM:612645]. DFNB1B is a form

of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear,

the nerve pathways to the brain, or the area of the brain that receives sound information

Defects in GJB6 are the cause of deafness autosomal dominant type 3B (DFNA3B) [MIM:612643]

20/45 diseases for GJB6 (see all 45): About MalaCards

ectodermal dysplasia clouston syndrome peripheral neuropathy bart-pumphrey syndrome

dfna 3 nonsyndromic hearing loss and deafness dfnb 1 nonsyndromic hearing loss and deafness nonsyndromic hearing loss and deafness deafness, autosomal dominant 3b

enlarged vestibular aqueduct deafness, autosomal recessive 1b neuropathy hearing loss

erythrokeratodermia variabilis pachyonychia congenita dfnb1 sphenoid sinusitis

sensorineural hearing loss palmoplantar keratosis auditory neuropathy nonsyndromic deafness

7 diseases from the University of Copenhagen DISEASES database for GJB6:

Nonsyndromic deafness Clouston syndrome Sensorineural hearing loss Enlarged vestibular aqueduct

Bart-Pumphrey syndrome Palmoplantar keratosis Orchitis

9 Novoseek disease relationships for GJB6 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dfnb1	96.5	28	11807148 (2), 19719946 (2), 16336662 (1), 19465004 (1) (see all 14)
hidrotic ectodermal dysplasia	92.7	9	17160938 (1), 14708603 (1), 19318801 (1), 11874494 (1) (see all 6)
hearing loss sensorineural	79.7	13	17666888 (2), 20233142 (2), 16840571 (1), 15064611 (1) (see all 6)
congenital deafness	76.6	4	17152467 (1), 12910486 (1), 15638823 (1), 17426645 (1)
deafness sensorineural	67.1	6	15464308 (1), 19285977 (1), 16222667 (1)
skin diseases	44.4	5	12419304 (1), 11933201 (1), 19283857 (1)
tumors	4.54	6	19844737 (5)
cancer	2.74	11	17695503 (3), 19528455 (1)
carcinoma	0	2	17695503 (1)

GeneTests: GJB6

DFNA 3 Nonsyndromic Hearing Loss and Deafness

Hidrotic Ectodermal Dysplasia 2

DFNB 1 Nonsyndromic Hearing Loss and Deafness

Genetic Association Database (GAD): GJB6
Human Genome Epidemiology (HuGE) Navigator: GJB6 (72 documents)

Export disorders for GJB6 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GJB6 gene, integrated from 9 sources (see all 195):
(articles sorted by number of sources associating them with GJB6)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. (PubMed id 10471490)^{1, 2, 3} Grifa A.... Gasparini P. (1999)
GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment. (PubMed id 15345117)^{1, 4, 9} Gronskov K....Brondum-Nielsen K. (2004)
Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. (PubMed id 10610709)^{1, 2, 9} Kelley P.M....Kimberling W.J. (1999)
Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program. (PubMed id 16125251)^{1, 4, 9} Propst E.J....Papsin B.C. (2006)
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis. (PubMed id 15150777)^{1, 4, 9} Feldmann D....Marlin S. (2004)
Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss. (PubMed id 15064611)^{1, 4, 9} Erbe C.B....Wackym P.A. (2004)
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. (PubMed id 11807148)^{1, 2, 9} del Castillo I.... Moreno F. (2002)
The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects. (PubMed id 15025729)^{1, 4, 9} Fitzgerald T....Caggana M. (2004)
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria. (PubMed id 12872268)^{1, 4, 9} Gunther B....Janecke A. (2003)
Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. (PubMed id 15464308)^{1, 4, 9} Frei K....Kirschhofer K. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 10804	HGNC: 4288	AceView: GJB6	Ensembl:ENSG00000121742	euGenes: HUgn10804
ECgene: GJB6	H-InvDB: GJB6

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GJB6	Pharmacogenomics, SNPs, Pathways
Connexin-deafness homepage	http://davinci.crg.es/deafness/
Hereditary hearing loss homepage	http://webhost.ua.ac.be/hhh/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJB6

Intellectual Property for GJB6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GJB6 gene:
Search GeneIP for patents involving GJB6

GeneCards and IP:
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GJB6 Gene

gap junction protein, beta 6, 30kDa

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GJB6 Gene

gap junction protein, beta 6, 30kDa

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