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, a... See more...

Aliases for GJB2 Gene

Aliases for GJB2 Gene

  • Gap Junction Protein Beta 2 2 3 5
  • Gap Junction Protein, Beta 2, 26kDa 2 3
  • Gap Junction Beta-2 Protein 3 4
  • Connexin 26 2 3
  • Gap Junction Protein, Beta 2, 26kDa (Connexin 26) 2
  • Gap Junction Protein, Beta 2, 26kD (Connexin 26) 2
  • Mutant Gap Junction Beta 2 Protein 3
  • Mutant Gap Junction Protein Beta 2 3
  • Gap Junction Beta 2 Proteinc 3
  • Connexin-26 4
  • DFNA3A 3
  • DFNB1A 3
  • NSRD1 3
  • DFNA3 3
  • DFNB1 3
  • CX26 3
  • Cx26 4
  • HID 3
  • KID 3
  • PPK 3

External Ids for GJB2 Gene

Previous HGNC Symbols for GJB2 Gene

  • DFNB1
  • DFNA3

Previous GeneCards Identifiers for GJB2 Gene

  • GC13M018741
  • GC13M014741
  • GC13M019691
  • GC13M018559
  • GC13M019659
  • GC13M020761
  • GC13M001567

Summaries for GJB2 Gene

Entrez Gene Summary for GJB2 Gene

  • 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]

GeneCards Summary for GJB2 Gene

GJB2 (Gap Junction Protein Beta 2) is a Protein Coding gene. Diseases associated with GJB2 include Vohwinkel Syndrome and Knuckle Pads, Leukonychia, And Sensorineural Deafness. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Gene Ontology (GO) annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB6.

UniProtKB/Swiss-Prot Summary for GJB2 Gene

  • Structural component of gap junctions (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910, PubMed:16849369, PubMed:19384972). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:21094651, PubMed:16849369, PubMed:19384972).

Tocris Summary for GJB2 Gene

  • Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).

Gene Wiki entry for GJB2 Gene

Additional gene information for GJB2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJB2 Gene

Genomics for GJB2 Gene

GeneHancer (GH) Regulatory Elements for GJB2 Gene

Promoters and enhancers for GJB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J020190 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 515.6 +0.7 654 4.6 HNRNPK ZBTB10 ZNF423 ZBTB26 EZH2 ZNF341 RELA TCF12 ZNF316 SP2 GJB2 GJA3 ENSG00000279065 lnc-ZMYM2-10 piR-61184 lnc-ZMYM2-9
GH13J020405 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 19.6 -212.9 -212860 0.9 TEAD4 POLR2A TBP CTBP2 RBBP5 GJB2 GJB6 HSALNG0095531 piR-41525-133 CRYL1
GH13J020411 Enhancer 1.1 FANTOM5 Ensembl ENCODE 10.9 -219.1 -219126 3 SP1 TEAD4 RELA TRIM22 BCL11A TCF12 CREB1 CBFB SRF MEF2B CRYL1 GJB2 GJB6 piR-41525-133 MIR4499
GH13J020400 Enhancer 0.9 FANTOM5 Ensembl ENCODE dbSUPER 13.3 -208.8 -208826 2.8 FOSL1 ATF3 HSALNG0095531 CRYL1 GJB2 GJB6 HSALNG0095535
GH13J020391 Enhancer 0.8 ENCODE dbSUPER 11.5 -198.7 -198732 0.2 ZNF217 GATAD2B CTBP1 MYC CTCF MAZ DPF2 RCOR1 ZBTB7B HSF1 GJB2 HSALNG0095535 HSALNG0095531 HSALNG0095533
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJB2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GJB2

Top Transcription factor binding sites by QIAGEN in the GJB2 gene promoter:
  • aMEF-2
  • AP-1
  • ATF
  • ATF-2
  • c-Jun
  • Elk-1
  • FOXO1
  • FOXO1a
  • MEF-2A
  • Pax-4a

Genomic Locations for GJB2 Gene

Genomic Locations for GJB2 Gene
chr13:20,187,463-20,192,975
(GRCh38/hg38)
Size:
5,513 bases
Orientation:
Minus strand
chr13:20,761,602-20,767,114
(GRCh37/hg19)
Size:
5,513 bases
Orientation:
Minus strand

Genomic View for GJB2 Gene

Genes around GJB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJB2 Gene

Proteins for GJB2 Gene

  • Protein details for GJB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29033-CXB2_HUMAN
    Recommended name:
    Gap junction beta-2 protein
    Protein Accession:
    P29033
    Secondary Accessions:
    • Q508A5
    • Q508A6
    • Q5YLL0
    • Q5YLL1
    • Q5YLL4
    • Q6IPV5
    • Q86U88
    • Q96AK0
    • Q9H536
    • Q9NNY4

    Protein attributes for GJB2 Gene

    Size:
    226 amino acids
    Molecular mass:
    26215 Da
    Quaternary structure:
    • A hemichannel or connexon is composed of a hexamer of connexins. A functional gap junction is formed by the apposition of two hemichannels (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Interacts with CNST (PubMed:19864490). Forms heteromeric channels with GJB4 (By similarity).

    Three dimensional structures from OCA and Proteopedia for GJB2 Gene

neXtProt entry for GJB2 Gene

Post-translational modifications for GJB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJB2 Gene

Domains & Families for GJB2 Gene

Gene Families for GJB2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for GJB2 Gene

Blocks:
  • Connexin, N terminal
  • Gap junction beta-2 protein (Cx26) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GJB2 Gene

GenScript: Design optimal peptide antigens:
  • Gap junction protein (A8DU55_HUMAN)
  • Connexin-26 (CXB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29033

UniProtKB/Swiss-Prot:

CXB2_HUMAN :
  • Belongs to the connexin family. Beta-type (group I) subfamily.
Family:
  • Belongs to the connexin family. Beta-type (group I) subfamily.
genes like me logo Genes that share domains with GJB2: view

Function for GJB2 Gene

Molecular function for GJB2 Gene

UniProtKB/Swiss-Prot Function:
Structural component of gap junctions (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910, PubMed:16849369, PubMed:19384972). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:21094651, PubMed:16849369, PubMed:19384972).
GENATLAS Biochemistry:
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))

Phenotypes From GWAS Catalog for GJB2 Gene

Gene Ontology (GO) - Molecular Function for GJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity IDA 12767933
GO:0005509 calcium ion binding IDA 26753910
GO:0042802 identical protein binding IPI 17551008
GO:0046872 metal ion binding IEA --
GO:1903763 gap junction channel activity involved in cell communication by electrical coupling IDA 12767933
genes like me logo Genes that share ontologies with GJB2: view
genes like me logo Genes that share phenotypes with GJB2: view

Human Phenotype Ontology for GJB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJB2 Gene

MGI Knock Outs for GJB2:
  • Gjb2 Gjb2<tm1Kwi>
  • Gjb2 Gjb2<tm3.2(Gjb1)Kwi>
  • Gjb2 Gjb2<tm2.2Kwi>
  • Gjb2 Gjb2<tm3.3(Gjb1)Kwi>
  • Gjb2 Gjb2<tm3.1(Gjb1)Kwi>
  • Gjb2 Gjb2<tm3(Gjb1)Kwi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GJB2 Gene

Localization for GJB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJB2 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. Note=Colocalizes with GJB4 at gap junction plaques in the cochlea. {ECO:0000250 UniProtKB:Q00977}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GJB2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
cytosol 3
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment TAS --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 21094651
genes like me logo Genes that share ontologies with GJB2: view

Pathways & Interactions for GJB2 Gene

genes like me logo Genes that share pathways with GJB2: view

Pathways by source for GJB2 Gene

1 GeneGo (Thomson Reuters) pathway for GJB2 Gene
  • Cell adhesion Gap junctions
1 Qiagen pathway for GJB2 Gene
  • Signaling in Gap Junctions

SIGNOR curated interactions for GJB2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for GJB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002931 response to ischemia IEA --
GO:0007154 cell communication IEA --
GO:0007267 cell-cell signaling ISS --
GO:0007565 female pregnancy IEA --
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with GJB2: view

Drugs & Compounds for GJB2 Gene

(27) Drugs for GJB2 Gene - From: ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flufenamic acid Approved Pharma Channel blocker, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 1
Carbenoxolone Experimental Pharma Inhibitor 0
octanol Investigational Pharma Inhibitor 0
Gap 26 Pharma Gap junction blocker peptide, mapping to connexin 43 residue 63-75, Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release 0
Ca<sup>2+</sup> Pharma Activator, Full agonist, Agonist, Inhibitor, Antagonist, Channel blocker 0

(14) Additional Compounds for GJB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GJB2 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 955091-53-9
Carbenoxolone disodium Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase 7421-40-1
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
Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide 1315378-72-3

(1) ApexBio Compounds for GJB2 Gene

Compound Action Cas Number
Gap 26 Gap junction blocker peptide, mapping to connexin 43 residue 63-75 197250-15-0
genes like me logo Genes that share compounds with GJB2: view

Drug Products

Transcripts for GJB2 Gene

mRNA/cDNA for GJB2 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJB2 Gene

No ASD Table

Relevant External Links for GJB2 Gene

GeneLoc Exon Structure for
GJB2

Expression for GJB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GJB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJB2 Gene

This gene is overexpressed in Esophagus - Mucosa (x20.8), Vagina (x10.8), Cervix - Ectocervix (x9.0), and Minor Salivary Gland (x6.0).

Protein differential expression in normal tissues from HIPED for GJB2 Gene

This gene is overexpressed in Esophagus (46.1) and Spinal cord (22.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GJB2 Gene



Protein tissue co-expression partners for GJB2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GJB2

SOURCE GeneReport for Unigene cluster for GJB2 Gene:

Hs.524894

Evidence on tissue expression from TISSUES for GJB2 Gene

  • Intestine(4.4)
  • Blood(4.3)
  • Skin(3.1)
  • Liver(2.6)
  • Nervous system(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GJB2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • salivary gland
  • scalp
  • skull
  • tongue
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GJB2: view

No data available for mRNA Expression by UniProt/SwissProt for GJB2 Gene

Orthologs for GJB2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJB2 31 30
  • 99.26 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB2 31
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GJB2 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJB2 31 30
  • 89.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gjb2 17 31 30
  • 87.17 (n)
rat
(Rattus norvegicus)
Mammalia Gjb2 30
  • 86.87 (n)
cow
(Bos Taurus)
Mammalia GJB2 31 30
  • 86.43 (n)
OneToOne
chicken
(Gallus gallus)
Aves GJB2 30
  • 73.48 (n)
GJB6 31
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 23 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6148 30
African clawed frog
(Xenopus laevis)
Amphibia gjb2-prov 30
zebrafish
(Danio rerio)
Actinopterygii cx30.3 31
  • 55 (a)
OneToMany
Species where no ortholog for GJB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJB2 Gene

ENSEMBL:
Gene Tree for GJB2 (if available)
TreeFam:
Gene Tree for GJB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GJB2: view image

Paralogs for GJB2 Gene

(17) SIMAP similar genes for GJB2 Gene using alignment to 6 proteins:

  • CXB2_HUMAN
  • A8DU55_HUMAN
  • H9U1J4_HUMAN
  • T1W120_HUMAN
  • T1W1N3_HUMAN
  • V5Q007_HUMAN
genes like me logo Genes that share paralogs with GJB2: view

Variants for GJB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GJB2 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
644162 Pathogenic: not provided 20,189,005(-) CT/C FRAMESHIFT_VARIANT
666834 Uncertain Significance: not specified 20,189,302(-) G/A MISSENSE_VARIANT
739837 Likely Benign: not provided 20,189,405(-) G/A SYNONYMOUS_VARIANT
795789 Likely Benign: not provided 20,188,907(-) T/A SYNONYMOUS_VARIANT
796115 Likely Benign: not provided 20,189,474(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GJB2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GJB2 Gene

Variant ID Type Subtype PubMed ID
esv3631421 CNV gain 21293372
esv3631424 CNV gain 21293372
nsv1046946 CNV gain 25217958
nsv1078303 OTHER inversion 25765185
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159

Variation tolerance for GJB2 Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.56; 72.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJB2 Gene

Human Gene Mutation Database (HGMD)
GJB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJB2 Gene

Disorders for GJB2 Gene

MalaCards: The human disease database

(121) MalaCards diseases for GJB2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GJB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXB2_HUMAN
  • Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]: A form of non-syndromic 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. {ECO:0000269 PubMed:10830906, ECO:0000269 PubMed:11313763, ECO:0000269 PubMed:11439000, ECO:0000269 PubMed:12121355, ECO:0000269 PubMed:12239718, ECO:0000269 PubMed:12786758, ECO:0000269 PubMed:14722929, ECO:0000269 PubMed:15592461, ECO:0000269 PubMed:15666300, ECO:0000269 PubMed:15994881, ECO:0000269 PubMed:17660464, ECO:0000269 PubMed:17666888, ECO:0000269 PubMed:19384972, ECO:0000269 PubMed:23680645, ECO:0000269 PubMed:28281779, ECO:0000269 PubMed:9328482, ECO:0000269 PubMed:9336442, ECO:0000269 PubMed:9471561, ECO:0000269 PubMed:9529365}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]: A form of non-syndromic 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. {ECO:0000269 PubMed:10807696, ECO:0000269 PubMed:11313763, ECO:0000269 PubMed:11439000, ECO:0000269 PubMed:12668604, ECO:0000269 PubMed:12786758, ECO:0000269 PubMed:19384972, ECO:0000269 PubMed:9620796}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Vohwinkel syndrome (VOWNKL) [MIM:124500]: An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness. {ECO:0000269 PubMed:10369869, ECO:0000269 PubMed:12668604, ECO:0000269 PubMed:15954104, ECO:0000269 PubMed:18688874}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness. {ECO:0000269 PubMed:10633135, ECO:0000269 PubMed:10757647, ECO:0000269 PubMed:12372058, ECO:0000269 PubMed:12668604, ECO:0000269 PubMed:15996214, ECO:0000269 PubMed:17993581, ECO:0000269 PubMed:9856479}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]: An autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Keratitis-ichthyosis-deafness syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. {ECO:0000269 PubMed:11912510, ECO:0000269 PubMed:12548749, ECO:0000269 PubMed:12752120}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Knuckle pads, leukonychia, and sensorineural deafness (KPLD) [MIM:149200]: An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. {ECO:0000269 PubMed:15482471, ECO:0000269 PubMed:15952212}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]: An autosomal dominant 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. {ECO:0000269 PubMed:12072059}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GJB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for GJB2 Gene

  1. Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. (PMID: 14722929) Gasmelseed NM … Meyer CG (Human mutation 2004) 3 4 23 41 54
  2. GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent. (PMID: 20381175) Shan J … Samanich J (International journal of pediatric otorhinolaryngology 2010) 3 23 41 54
  3. Pediatric cholesteatoma and variants in the gene encoding connexin 26. (PMID: 19877196) James AL … Stockley TL (The Laryngoscope 2010) 3 23 41 54
  4. Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. (PMID: 20022641) Gravina LP … Chertkoff L (International journal of pediatric otorhinolaryngology 2010) 3 23 41 54
  5. GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population. (PMID: 19887791) Dalamón V … Elgoyhen AB (Audiology & neuro-otology 2010) 3 23 41 54

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