GJB6 Gene (Protein Coding)

Gap Junction Protein Beta 6

GC13M020221
GIFtS:
44
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 i... See more...

Aliases for GJB6 Gene

Aliases for GJB6 Gene

  • Gap Junction Protein Beta 6 2 3 5
  • Ectodermal Dysplasia 2, Hidrotic (Clouston Syndrome) 2 3
  • Gap Junction Protein, Beta 6, 30kDa 2 3
  • Gap Junction Beta-6 Protein 3 4
  • Connexin 30 2 3
  • CX30 2 3
  • EDH 2 3
  • HED 2 3
  • Gap Junction Protein, Beta 6 (Connexin 30) 2
  • Gap Junction Protein, Beta 6 2
  • Connexin-30 4
  • DFNA3B 3
  • DFNB1B 3
  • DFNA3 3
  • ECTD2 3
  • HED2 3
  • GJB6 5
  • Cx30 4
  • ED2 3

External Ids for GJB6 Gene

Previous HGNC Symbols for GJB6 Gene

  • DFNA3
  • ED2

Previous GeneCards Identifiers for GJB6 Gene

  • GC13M018776
  • GC13M014776
  • GC13M019726
  • GC13M018594
  • GC13M019694
  • GC13M020796
  • GC13M001601

Summaries for GJB6 Gene

Entrez Gene Summary for GJB6 Gene

  • 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]

GeneCards Summary for GJB6 Gene

GJB6 (Gap Junction Protein Beta 6) is a Protein Coding gene. Diseases associated with GJB6 include Clouston Syndrome and Deafness, Autosomal Dominant 3B. Among its related pathways are Gap junction trafficking and Vesicle-mediated transport. An important paralog of this gene is GJB2.

UniProtKB/Swiss-Prot Summary for GJB6 Gene

  • 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.

Tocris Summary for GJB6 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 GJB6 Gene

Additional gene information for GJB6 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJB6 Gene

Genomics for GJB6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GJB6 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
GH13J020231 Promoter 0.8 EPDnew Ensembl 607.1 +0.2 194 0.8 CTCF EZH2 GJB6 lnc-GJB2-2 ENSG00000279065 GJB2 lnc-ZMYM2-10
GH13J020247 Promoter/Enhancer 0.6 EPDnew Ensembl 610.2 -15.1 -15106 1.8 HLF GJB6 HSALNG0095525 piR-61289-025 lnc-GJB6-1 CRYL1
GH13J020405 Enhancer 0.7 FANTOM5 ENCODE dbSUPER 7 -173.4 -173440 0.9 TEAD4 POLR2A TBP GJB2 GJB6 HSALNG0095531 MN309174-128 CRYL1
GH13J020411 Enhancer 1.1 FANTOM5 Ensembl ENCODE 4.3 -179.7 -179706 3 SP1 TEAD4 RELA IKZF2 TRIM22 EED DPF2 RELB RUNX3 GATAD2B CRYL1 GJB2 GJB6 piR-41525-133 MIR4499
GH13J020435 Enhancer 0.3 ENCODE 10.9 -203.4 -203402 0.2 USF1 EZH2 MIR4499 GJB6 piR-61101-130 CRYL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJB6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GJB6

Top Transcription factor binding sites by QIAGEN in the GJB6 gene promoter:
  • AML1a
  • ATF-2
  • CRE-BP1
  • GATA-1
  • Sox9

Genomic Locations for GJB6 Gene

Genomic Locations for GJB6 Gene
chr13:20,221,962-20,232,395
(GRCh38/hg38)
Size:
10,434 bases
Orientation:
Minus strand
chr13:20,796,101-20,806,534
(GRCh37/hg19)
Size:
10,434 bases
Orientation:
Minus strand

Genomic View for GJB6 Gene

Genes around GJB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJB6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GJB6 Gene

Proteins for GJB6 Gene

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  • Protein details for GJB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95452-CXB6_HUMAN
    Recommended name:
    Gap junction beta-6 protein
    Protein Accession:
    O95452
    Secondary Accessions:
    • B3KQN2
    • Q5Q1H9
    • Q5Q1I0
    • Q5Q1I1
    • Q5T5U0
    • Q8IUP0

    Protein attributes for GJB6 Gene

    Size:
    261 amino acids
    Molecular mass:
    30387 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).

neXtProt entry for GJB6 Gene

Protein Expression for GJB6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GJB6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJB6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJB6 Gene

Domains & Families for GJB6 Gene

Gene Families for GJB6 Gene

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

Protein Domains for GJB6 Gene

InterPro:
Blocks:
  • Connexin, N terminal
ProtoNet:

Suggested Antigen Peptide Sequences for GJB6 Gene

GenScript: Design optimal peptide antigens:
  • Connexin-30 (CXB6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95452

UniProtKB/Swiss-Prot:

CXB6_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 GJB6: view

Function for GJB6 Gene

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  2. CRISPR
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Molecular function for GJB6 Gene

UniProtKB/Swiss-Prot 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:
gap junction protein,beta six,mouse CX30 homolog,expressed in the cochlea

Phenotypes From GWAS Catalog for GJB6 Gene

Gene Ontology (GO) - Molecular Function for GJB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity IDA 12767933
GO:0008017 microtubule binding IDA 19285977
GO:0048487 beta-tubulin binding IDA 19285977
GO:0051015 actin filament binding IDA 19285977
GO:1903763 gap junction channel activity involved in cell communication by electrical coupling IDA 12767933
genes like me logo Genes that share ontologies with GJB6: view
genes like me logo Genes that share phenotypes with GJB6: view

Human Phenotype Ontology for GJB6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJB6 Gene

MGI Knock Outs for GJB6:
  • Gjb6 Gjb6<tm1Kwi>
  • Gjb6 Gjb6<tm1.1Mcsa>

Animal Model Products

CRISPR Products

miRNA for GJB6 Gene

miRTarBase miRNAs that target GJB6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJB6

Clone Products

  • Addgene plasmids for GJB6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GJB6 Gene

Localization for GJB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJB6 Gene

Cell membrane. Multi-pass membrane protein. Cell junction, gap junction.

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 GJB6 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 3
extracellular 2
mitochondrion 2
nucleus 2
lysosome 2
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GJB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005829 cytosol IEA --
GO:0005884 actin filament IMP 19285977
GO:0005886 plasma membrane IEA --
GO:0005921 gap junction NAS 12767933
genes like me logo Genes that share ontologies with GJB6: view

Pathways & Interactions for GJB6 Gene

genes like me logo Genes that share pathways with GJB6: view

Pathways by source for GJB6 Gene

1 BioSystems pathway for GJB6 Gene
1 Qiagen pathway for GJB6 Gene
  • Signaling in Gap Junctions

Interacting Proteins for GJB6 Gene

Selected Interacting proteins: O95452-CXB6_HUMAN for GJB6 Gene via UniProtKB IID

GPS-Prot Interaction Network for GJB6

Gene Ontology (GO) - Biological Process for GJB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007154 cell communication IEA --
GO:0007267 cell-cell signaling IBA 21873635
GO:0007568 aging IEA --
GO:0007605 sensory perception of sound TAS,IEA --
genes like me logo Genes that share ontologies with GJB6: view

No data available for SIGNOR curated interactions for GJB6 Gene

Drugs & Compounds for GJB6 Gene

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  1. Drug

(9) Drugs for GJB6 Gene - From: DGIdb, IUPHAR, and Tocris

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 0
Carbenoxolone Experimental Pharma Inhibitor 0
octanol Investigational Pharma Inhibitor 0
Ca<sup>2+</sup> Pharma Activator, Agonist, Full agonist, Inhibitor, Antagonist, Channel blocker 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0

(5) Tocris Compounds for GJB6 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
genes like me logo Genes that share compounds with GJB6: view

Transcripts for GJB6 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for GJB6 Gene

7 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJB6

Clone Products

  • Addgene plasmids for GJB6

Alternative Splicing Database (ASD) splice patterns (SP) for GJB6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: - -
SP6:

Relevant External Links for GJB6 Gene

GeneLoc Exon Structure for
GJB6

Expression for GJB6 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GJB6 Gene

mRNA expression in normal human tissues for GJB6 Gene
mRNA expression by GTEx for GJB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJB6 Gene

This gene is overexpressed in Esophagus - Mucosa (x10.1) and Vagina (x6.3).

Protein differential expression in normal tissues from HIPED for GJB6 Gene

This gene is overexpressed in Heart (48.9) and Frontal cortex (20.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GJB6 Gene



Protein tissue co-expression partners for GJB6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GJB6

SOURCE GeneReport for Unigene cluster for GJB6 Gene:

Hs.511757

Evidence on tissue expression from TISSUES for GJB6 Gene

  • Nervous system(4.9)
  • Skin(4.6)
  • Thyroid gland(4.3)
  • Muscle(2.7)
  • Heart(2.6)
  • Blood(2.4)
  • Bone marrow(2.3)
  • Liver(2.2)
  • Spleen(2.2)
  • Lymph node(2.1)
  • Kidney(2.1)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GJB6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • 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
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
  • penis
  • testicle
  • vulva
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 GJB6: view

No data available for mRNA Expression by UniProt/SwissProt for GJB6 Gene

Orthologs for GJB6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GJB6 30 31
  • 99.36 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GJB6 30 31
  • 90.42 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GJB6 31
  • 90 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gjb6 30 17 31
  • 86.33 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gjb6 30
  • 86.21 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia GJB6 31
  • 85 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GJB6 30 31
  • 82.38 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves -- 31
  • 74 (a)
 ManyToMany
GJB6 30
  • 73.31 (n)
Lizard
(Anolis carolinensis)
 Reptilia GJB6 31
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia gjb2 30
  • 67.77 (n)
Zebrafish
(Danio rerio)
 Actinopterygii cx30.3 30 31
  • 61.9 (n)
 OneToMany
Species where no ortholog for GJB6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (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 GJB6 Gene

ENSEMBL:
Gene Tree for GJB6 (if available)
TreeFam:
Gene Tree for GJB6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GJB6: view image

Paralogs for GJB6 Gene

Paralogs for GJB6 Gene

(15) SIMAP similar genes for GJB6 Gene using alignment to 1 proteins:

  • CXB6_HUMAN
genes like me logo Genes that share paralogs with GJB6: view

Variants for GJB6 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GJB6 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
663718 Uncertain Significance: Hidrotic ectodermal dysplasia syndrome; Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3b; Deafness, autosomal recessive 1b 20,223,180(-) C/G MISSENSE_VARIANT
672304 Benign/Likely Benign: Hidrotic ectodermal dysplasia syndrome; not provided 20,223,123(-) C/T MISSENSE_VARIANT
712775 Likely Benign: not provided 20,223,475(-) A/G SYNONYMOUS_VARIANT
724026 Conflicting Interpretations: Hidrotic ectodermal dysplasia syndrome; not provided 20,223,451(-) G/A SYNONYMOUS_VARIANT
728700 Likely Benign: not provided 20,223,067(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GJB6 Gene

Structural Variations from Database of Genomic Variants (DGV) for GJB6 Gene

Variant ID Type Subtype PubMed ID
dgv1612n100 CNV loss 25217958
dgv3072n54 CNV loss 21841781
esv2751132 CNV loss 17911159
esv3631421 CNV gain 21293372
esv3631424 CNV gain 21293372
esv3631426 CNV gain 21293372
nsv1046946 CNV gain 25217958
nsv1078303 OTHER inversion 25765185
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159

Variation tolerance for GJB6 Gene

Residual Variation Intolerance Score: 43.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJB6 Gene

Human Gene Mutation Database (HGMD)
GJB6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJB6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJB6 Gene

Disorders for GJB6 Gene

MalaCards: The human disease database

(50) MalaCards diseases for GJB6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GJB6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXB6_HUMAN
  • Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to 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. 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 feature. Hearing impairment has been detected in few cases. {ECO:0000269 PubMed:11017065, ECO:0000269 PubMed:11874494}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal recessive, 1B (DFNB1B) [MIM:612645]: 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:11807148, ECO:0000269 PubMed:15994881}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643]: A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. 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:10471490}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GJB6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GJB6: view

No data available for Genatlas for GJB6 Gene

Publications for GJB6 Gene

  1. 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
  2. Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss. (PMID: 20233142) Chinetti V … Franzè A (International journal of audiology 2010) 3 23 41
  3. Pediatric cholesteatoma and variants in the gene encoding connexin 26. (PMID: 19877196) James AL … Stockley TL (The Laryngoscope 2010) 3 23 41
  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
  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

ExternalLinks

View latest publications for GJB6 gene in Mastermind

Products for GJB6 Gene

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Sources for GJB6 Gene