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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GJB2 Gene

protein-coding GIFtS: 66
GCID: GC13M020761

gap junction protein, beta 2, 26kDa

(Previous names: gap junction protein, beta 2, 26kD (connexin 26), gap junction...)
(Previous symbols: DFNB1, DFNA3)

Explore 90 diseases affiliated with
GJB2 via

MalaCards

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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 2, 26kDa¹ ²		PPK² ⁵
CX26¹ ² ⁵		Gap Junction Protein, Beta 2, 26kD (Connexin 26)¹
DFNA3¹ ²		Gap Junction Protein, Beta 2, 26kDa (Connexin 26)¹
DFNB1¹ ²		Connexin 26²
NSRD1¹ ²		Gap Junction Beta-2 Protein²
DFNA3A² ⁵		Gap Junction Protein Beta 2²
DFNB1A² ⁵		Connexin-26³
HID² ⁵		Cx26³
KID² ⁵

External Ids:	HGNC: 4284¹	Entrez Gene: 2706²	Ensembl: ENSG00000165474⁷	OMIM: 121011⁵	UniProtKB: P29033³

Export aliases for GJB2 gene to outside databases

Previous GC identifers: GC13M018741 GC13M014741 GC13M019691 GC13M018559 GC13M019659 GC13M001567

(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 GJB2:

This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron

microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures

were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells.

The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different

tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins

are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of

pre-lingual, recessive deafness. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033

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 GJB2:

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 GJB2

(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 GJB2 gene promoter:
Elk-1 AP-1 ATF-2 MEF-2A FOXO1a c-Jun aMEF-2 Pax-4a ATF FOXO1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for GJB2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJB2

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

Entrez Gene cytogenetic band: 13q11-q12 Ensembl cytogenetic band: 13q12.11 HGNC cytogenetic band: 13q11-q12

GJB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJB2 gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13M020761: view genomic region (about GC identifiers)

Start:	20,761,602 bp from pter	End:	20,767,114 bp from pter
Size:	5,513 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: CXB2_HUMAN, P29033 (See protein sequence)

Recommended Name: Gap junction beta-2 protein

Size: 226 amino acids; 26215 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

Caution: The Thr-34 allele was originally thought to be a cause of autosomal dominant and recessive deafness (DFNA3 and

DFNB1) (PubMed:9139825). However, Thr-34 effect on hearing is controversial. Some studies supports its pathogenic role

(PubMed:17935238 and PubMed:16849369). Others provide evidence of the non-pathogenic nature of this variant

(PubMed:9422505 and PubMed:14694360)

4 PDB 3D structures from and Proteopedia for GJB2:

1XIR (3D)

2ZW3 (3D)

3IZ1 (3D)

3IZ2 (3D)

Secondary accessions: Q508A5 Q508A6 Q5YLL0 Q5YLL1 Q5YLL4 Q6IPV5 Q86U88 Q96AK0 Q9H536 Q9NNY4

Explore the universe of human proteins at neXtProt for GJB2: NX_P29033

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P29033

GJB2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_003995.2

ENSEMBL proteins:

ENSP00000372299 ENSP00000372295

Reactome Protein details: P29033
Human Recombinant Protein Products for GJB2:

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	Uscn Proteins for GJB2

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	TAS	--
GO:0005886	plasma membrane	TAS	--
GO:0005921	gap junction	--	--
GO:0005922	connexon complex	IEA	--
GO:0016021	integral to membrane	IEA	--

GJB2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for GJB2

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

GJB2 for domains About GeneDecksing

5 InterPro domains/families:

IPR000500 Connexin

IPR019570 Connexin_CCC

IPR013092 Connexin_N

IPR017990 Connexin_CS

IPR002268 Connexin26

Graphical View of Domain Structure for InterPro Entry P29033

ProtoNet protein and cluster: P29033

2 Blocks protein families:

IPB002268 Gap junction beta-2 protein (Cx26) signature

IPB013092 Connexin

UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033

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: CXB2_HUMAN, P29033

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 GJB2:

gap junction protein,beta 2,26kDa (connexin 26),expressed in the cochlea,weakly in the suprabasal layer of the

epidermis and in epithelial cells of the mammary gland and endometre,monomer of the connexon (six subunits including

GJA3,GJA8,GJB1,GJB2))

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005243	gap junction channel activity	IEA	--
GO:0005515	protein binding	--	--

GJB2 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for GJB2:

Decreased focal adhesion (FA)

15/17 MGI mutant phenotypes (inferred from 12 alleles) (MGI details for Gjb2) (see all 17):

cardiovascular system	cellular	craniofacial	embryogenesis	growth/size
hearing/vestibular/ear	homeostasis/metabolism	immune system	integument	limbs/digits/tail
mortality/aging	nervous system	no phenotypic analysis	normal	reproductive system

GJB2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Gjb2^tm1Kwi for GJB2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GJB2

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		4 QIAGEN miScript miRNA Assays for microRNAs that regulate GJB2:
		hsa-miR-520d-5p hsa-miR-9* hsa-miR-524-5p hsa-miR-944
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB2

(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 - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Oligomerization of connexins into connexons

	Oligomerization of connexins into connexons	1.00			Synthesis of Cx26	0.33
	Transport of connexins along the secretory pathway	1.00

Gap junction assembly

	Gap junction assembly	1.00			Gap junction trafficking and regulation	0.70
	Gap junction trafficking	0.74

Cell adhesion_Gap junctions

Cell adhesion_Gap junctions

1.00

Cell adhesion Gap junctions

0.89

Membrane Trafficking

Membrane Trafficking

1.00

Signaling in Gap Junctions

Signaling in Gap Junctions

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GJB2

Cell adhesion Gap junctions

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for GJB2

Signaling in Gap Junctions

1 GeneGo (Thomson Reuters) Pathway for GJB2

Cell adhesion Gap junctions

1 BioSystems Pathway for GJB2

Calcium Regulation in the Cardiac Cell

5/8 Reactome Pathways for GJB2 (see all 8)

	Gap junction assembly
	Gap junction trafficking
	Synthesis of Cx26
	Membrane Trafficking
	Transport of connexons to the plasma membrane

GJB2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GJB2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/25 Interacting proteins for GJB2 (P29033³ ENSP00000372295⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CAV1	Q03135³, ENSP00000339191⁴	I2D: score=2 STRING: ENSP00000339191
CNST	Q6PJW8³, ENSP00000355470⁴	I2D: score=1 STRING: ENSP00000355470
GJB1	P08034³, ENSP00000354900⁴	I2D: score=1 STRING: ENSP00000354900
GJB6	O95452³, ENSP00000241124⁴	I2D: score=2 STRING: ENSP00000241124
GJA1	ENSP00000282561⁴	STRING: ENSP00000282561

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	1324944
GO:0007267	cell-cell signaling	IEA	--
GO:0007605	sensory perception of sound	IEA	--
GO:0016044	cellular membrane organization	TAS	--
GO:0016264	gap junction assembly	TAS	--

GJB2 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

GJB2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GJB2 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]

10/32 Novoseek chemical compound relationships for GJB2 gene (see all 32) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
oleamide	46.3	4	17290388 (1), 17499720 (1), 16982053 (1)
polyphosphate	44.3	7	10872445 (1), 10931957 (1), 16684595 (1), 19395572 (1) (see all 6)
apai	31.9	2	16335400 (1), 17505205 (1)
aminoglycosides	29.7	1	16650816 (1)
nocodazole	26.9	4	10085106 (2), 15128867 (1)
aequorin	24.9	3	9792698 (1), 9430718 (1)
asparagine	18.3	2	15798904 (1)
ganciclovir	10.7	1	11668482 (1)
5-aza-2'deoxycytidine	9.99	4	11872627 (1), 15386363 (1), 10769635 (1)
guanine	9.88	2	10477435 (1), 10860712 (1)

Search CenterWatch for drugs/clinical trials and news about GJB2 / CXB2

(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 GJB2 gene:

NM_004004.5

Unigene Cluster for GJB2:

Gap junction protein, beta 2, 26kDa

Hs.524894 [show with all ESTs]

Unigene Representative Sequence: NM_004004

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

ENST00000382848(uc001umy.3) ENST00000382844(uc021rha.1)

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJB2

Additional cDNA sequence:

AK225966.1 AK313595.1 BC017048.1 BC071703.1 BT006732.1 JQ342677.1

4 DOTS entries:

DT.113841 DT.91943064 DT.100743979 DT.120785344

24/120 AceView cDNA sequences (see all 120):

H88913 BM785180 T28737 BG677522 CA454536 BG677944 BE465701 BC017048

BG677055 BT006732 BG698719 AW117930 AW276060 AW192488 BG742523 BG681001

CA310936 BE711436 NM_004004 AI076554 AA257102 AI917637 BI085076 AI783695

GeneLoc Exon Structure

(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

GJB2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTTCCAAAA

About this image

GJB2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Respiratory Bronchioles

Basal Cells

Lung

Brain

Meninges

Brain

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

See GJB2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GJB2

SOURCE GeneReport for Unigene cluster: Hs.524894

SABiosciences Expression via Pathway-Focused PCR Arrays including GJB2:

Cell Junction PathwayFinder in human mouse rat

Gap Junctions in human mouse rat

Stem Cells in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJB2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJB2

(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 GJB2 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GJB2¹	gap junction protein, beta 2, 26kDa	73.18(n) 78.64(a)		428083 XM_425641.3 XP_425641.3
lizard (Anolis carolinensis)	Reptilia	GJB6⁶	--	69(a)	1 → many	3(187332072-187332857)
African clawed frog (Xenopus laevis)	Amphibia	gjb2-prov²	gap junction membrane channel protein beta 6	75.88(n)		BC043797.1
zebrafish (Danio rerio)	Actinopterygii	cx30.3⁶	connexin 30.3	56(a)	1 → many	9(22434534-22438411)

ENSEMBL Gene Tree for GJB2 (if available)
TreeFam Gene Tree for GJB2 (if available)

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

Paralogs for GJB2 gene

GJB3² GJA10² GJB6² GJA4² GJC1² GJB5² GJC2² GJA5²

GJD2² GJA3² GJA9² GJD3² GJB4² GJB7² GJA1² GJA8²

GJB1²

17 SIMAP similar genes for GJB2 using alignment to 3 protein entries: CXB2_HUMAN (see all proteins):

GJB1 GJB6 GJB5 GJB4 GJB3 GJB7

GJC1 GJA3 GJA4 GJA8 GJA9 GJA1

GJD3 GJA5 GJC3 GJD2 GJC2

GJB2 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
				--	--	--		--	--
rs76838169^1,2	C	non-pathogenic	1568565(-)	`TTGCAT/CCCTGC`	2	/T /I	mis¹		2		EA EU	1443
rs111033196^1,2	C,F	non-pathogenic	1568793(-)	`GGTCCG/ACATCG`	2	/H /R	mis¹		2		NA EU	5873
rs2274084^1,2	C,F,H	non-pathogenic	1569094(+)	`GAGGAC/TGGTGA`	2	I V	mis¹ ese³		24		EA NS MN NA EU	9432
rs104894406^1,2	C	pathogenic	1568568(-)	`AATTTG/TCATCC`	2	C F	mis¹		0	--	--	--	--
rs80338950^1,2	C	pathogenic	1568622(-)	`GTCCCC/GGCCCA`	2	P R	mis¹		0	--	--	--	--
rs28931595^1,2	C	pathogenic	1568638(-)	`CTGTGG/AACTGC`	2	/N /D	mis¹ ese³		2		NA	4
rs80338949^1,2	C	pathogenic	1568686(-)	`TCTCCA/GTGCAG`	2	M V	mis¹		0	--	--	--	--
rs28931592^1,2	C	pathogenic	1568697(-)	`GTACGA/TCGGCT`	2	D V	mis¹ ese³		2		NA	4
rs104894401^1,2	C	pathogenic	1568745(-)	`CTTCCA/GGGTCA`	2	Q R	mis¹		0	--	--	--	--
rs80338947^1,2	C	pathogenic	1568813(-)	`TCGAG-/GAGATCAA`	1	--	cds¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GJB2 (20761602 - 20767114 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for GJB2
2 Indels: 86716 76260
Human Gene Mutation Database (HGMD): GJB2

Locus Specific Mutation Databases (LSDB): GJB2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GJB2

DNA2.0 Custom Variant and Variant Library Synthesis for GJB2

(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

GJB2 for disorders           About GeneDecksing

OMIM gene information: 121011
OMIM disorders: 220290  601544  124500  148350  148210  602540  149200
UniProtKB/Swiss-Prot: CXB2_HUMAN, P29033

Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A) [MIM:220290]. DFNB1A 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 GJB2 are the cause of deafness autosomal dominant type 3A (DFNA3A) [MIM:601544]

Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:124500]. VS is an autosomal dominant disease

characterized by hyperkeratosis, constriction on finger and toes and congenital deafness

Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN) [MIM:148350]. PPKDFN is an

autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive,

bilateral, high-frequency, sensorineural deafness

Defects in GJB2 are a cause of keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]; an

autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of

developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two

or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical

sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is

characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound

sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows,

sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails

Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS) [MIM:149200]. BPS is an autosomal dominant

disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It

shows considerable phenotypic variability

Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540].

HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and

spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in

the extent and time of occurrence of skin symptoms and the severity of the associated keratitis

20/90 diseases for GJB2 (see all 90): About MalaCards

enlarged vestibular aqueduct peripheral neuropathy bart-pumphrey syndrome dfna 3 nonsyndromic hearing loss and deafness

hystrix-like ichthyosis with deafness dfnb 1 nonsyndromic hearing loss and deafness nonsyndromic hearing loss and deafness keratoderma palmoplantar deafness

keratitis-ichthyosis-deafness syndrome charcot-marie-tooth disease erythrokeratodermia variabilis dandy-walker malformation

hearing loss deafness, autosomal dominant 3a deafness, autosomal recessive 1a neuropathy

focal palmoplantar keratoderma keratoderma ectodermal dysplasia vohwinkel syndrome

9 diseases from the University of Copenhagen DISEASES database for GJB2:

Nonsyndromic deafness Sensorineural hearing loss Enlarged vestibular aqueduct Keratosis

Bart-Pumphrey syndrome Clouston syndrome Keratitis Usher syndrome

Erythrokeratodermia variabilis

10/62 Novoseek disease relationships for GJB2 gene (see all 62) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dfnb1	97.4	135	10903123 (5), 17498471 (4), 16941638 (4), 11807148 (3) (see all 61)
congenital deafness	92.4	54	11977173 (2), 14643477 (2), 15603707 (2), 17886676 (2) (see all 36)
dfna3	90.2	15	12064630 (2), 10633133 (1), 16059934 (1), 9507396 (1) (see all 10)
hearing loss sensorineural	88.5	118	15064611 (3), 15138772 (2), 19235794 (2), 12530196 (2) (see all 60)
vohwinkel syndrome	87.7	19	17106596 (3), 17993581 (1), 10369869 (1), 10751668 (1) (see all 10)
deafness sensorineural	85.4	36	15603707 (3), 12064630 (1), 18983339 (1), 10874298 (1) (see all 26)
congenital hearing loss	85.1	17	15603707 (2), 14755431 (2), 18428366 (1), 18585793 (1) (see all 13)
dfnb2	82.5	1	11101839 (1)
enlarged vestibular aqueduct syndrome	82.3	1	17886676 (1)
keratoderma palmoplantar	81.9	23	17993581 (2), 9856479 (2), 16059934 (1), 20096356 (1) (see all 16)

GeneTests: GJB2

DFNA 3 Nonsyndromic Hearing Loss and Deafness

DFNB 1 Nonsyndromic Hearing Loss and Deafness

Genetic Association Database (GAD): GJB2
Human Genome Epidemiology (HuGE) Navigator: GJB2 (252 documents)

Export disorders for GJB2 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 GJB2 gene, integrated from 9 sources (see all 844):
(articles sorted by number of sources associating them with GJB2)

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

Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. (PubMed id 14722929)^{1, 2, 4, 9} Gasmelseed N.M.A....Meyer C.G. (2004)
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. (PubMed id 9139825)^{1, 2, 3, 9} Kelsell D.P.... Leigh I.M. (1997)
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)
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). (PubMed id 11438992)^{1, 4, 9} Lin D....Lalwani A.K. (2001)
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. (PubMed id 12668604)^{1, 2, 9} Marziano N.K.... Forge A. (2003)
Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. (PubMed id 12752120)^{1, 2, 9} Yotsumoto S....Kanzaki T. (2003)
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria. (PubMed id 12189487)^{1, 4, 9} Janecke A.R....Nekahm-Heis D. (2002)
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)
[Non-invasive screening for GJB2 mutations in buccal smears for the diagnosis of inherited hearing impairment] (PubMed id 12851846)^{1, 4, 9} Schade G....Meyer C.G. (2003)
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. (PubMed id 11668644)^{1, 4, 9} Lerer I....Abeliovich D. (2001)

(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: 2706	HGNC: 4284	AceView: GJB2	Ensembl:ENSG00000165474	euGenes: HUgn2706
ECgene: GJB2	H-InvDB: GJB2

(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 GJB2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for GJB2	Genetics and Cytogenetics in Oncology and Haematology
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/GJB2

Intellectual Property for GJB2 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 GJB2 gene:
Search GeneIP for patents involving GJB2

GeneCards and IP:
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GJB2 Gene

gap junction protein, beta 2, 26kDa

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Congenital Disorders
Deaf-Mutism
Congenital cytomegalovirus infection
Herpes Simplex
Hearing Loss High-Frequency
dysplasia
Cystic Fibrosis
Erythrokeratodermia variabilis
DFNB4
KERATODERMA
Skin Diseases
Breast Cancer
congenital deafness
Hidrotic Ectodermal Dysplasia
Waardenburgs Syndrome
Adenocarcinoma
AIDS
ENLARGED VESTIBULAR AQUEDUCT SYNDROME
Seminoma
disability
Neck Cancer
Cancer
mammary tumor
DFNB1
DFNA 3 Nonsyndromic Hearing Loss and Deafness
Ectodermal Dysplasia
Deafness Sensorineural
Colorectal Cancer
EAR MALFORMATION
developmental delay
Cervical Cancer
Hyperkeratosis
CONGENITAL HEARING LOSS
prostate cancer
Keratitis
Tumors
Metastasis
Carcinoma Ductal
DFNB 1 Nonsyndromic Hearing Loss and Deafness
Sensory hearing loss
hearing impaired
Melanoma
bladder cancer
ESOPHAGEAL CARCINOMA
Hearing Loss Sensorineural
Carcinoma
Cataract
HEPATOCELLULAR CARCINOMA
Pancreatic Cancer
Meningioma
VOHWINKEL SYNDROME
DFNA3
Carcinoma Squamous Cell
Keratoderma Palmoplantar
SKIN LESION
DFNB2
DFNB3
PENDRED SYNDROME
Endometrial Hyperplasia
NAIL DYSTROPHY
genetic disorder
KNUCKLE PADS
Endometrial Cancer
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GJB2 Gene

gap junction protein, beta 2, 26kDa

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