| HGNC Family | Ion channels |
| Name | gap junction protein, beta 6, 30kDa |
| Description | 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] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nGJB6 encodes the gap junction protein connexin 30 (Cx30), which is critically involved in the maintenance of cochlear homeostasis. Cx30, expressed in non‐sensory supporting cells of the inner ear, collaborates with connexin 26 to form heteromeric and heterotypic gap junction channels that permit ion and small molecule transfer essential for regulating the endolymphatic environment and recycling K⁺ ions. Disruption of GJB6 through deletions that remove coding sequences or associated regulatory elements has been shown to impair this biochemical coupling, leading to autosomal recessive nonsyndromic hearing loss."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its fundamental role in the auditory system, GJB6 influences the expression and distribution of other connexins, particularly connexin 26 (Cx26). Deletions affecting the GJB6 locus can abolish cis‐regulatory elements necessary for GJB2 (Cx26) expression, underscoring an interdependence between these genes for proper gap junction assembly and function in the cochlea. In vitro investigations further reveal that while normally trafficked Cx30 reaches the plasma membrane to form functional gap junction plaques, disease‐associated mutations in GJB6 often lead to abnormal protein localization and impaired intercellular communication."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAnimal models and biophysical studies have further illuminated the specialized functions of GJB6. A mouse model carrying a point mutation in Cx30 exhibits a mild but significant hearing threshold increase, accompanied by diminished dye transfer and intercellular Ca²⁺ signaling in the cochlea. Computational molecular dynamics simulations have revealed that specific charged residues within Cx30 create an ion‐selective barrier that modulates unitary conductance distinct from that of Cx26. In addition, investigations of gap junction plaque dynamics, including studies in wound‐healing contexts, demonstrate that Cx30-containing channels exhibit a relatively fluid organization influenced by cytoskeletal interactions—properties that may be integral to both adaptive cellular responses and the pathogenesis of disorders such as Clouston syndrome."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "14"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "I Lerer, M Sagi, Z Ben-Neriah, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.1222"}], "href": "https://doi.org/10.1002/humu.1222"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11668644"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11668644"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Nathalie Pallares-Ruiz, Patricia Blanchet, Michel Mondain, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.ejhg.5200762"}], "href": "https://doi.org/10.1038/sj.ejhg.5200762"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11896458"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11896458"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ignacio Del Castillo, Miguel A Moreno-Pelayo, Francisco J Del Castillo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/380205"}], "href": "https://doi.org/10.1086/380205"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14571368"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14571368"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Sabrina W Yum, Junxian Zhang, Virginijus Valiunas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human connexin26 and connexin30 form functional heteromeric and heterotypic channels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Cell Physiol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpcell.00011.2007"}], "href": "https://doi.org/10.1152/ajpcell.00011.2007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17615163"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17615163"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Juan Rodriguez-Paris, Iris Schrijver "}, {"type": "b", "children": [{"type": "t", "text": "The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2009.08.152"}], "href": "https://doi.org/10.1016/j.bbrc.2009.08.152"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19723508"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19723508"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "John E A Common, David Becker, Wei-Li Di, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional studies of human skin disease- and deafness-associated connexin 30 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0006-291x(02)02517-2"}], "href": "https://doi.org/10.1016/s0006-291x(02"}, {"type": "t", "text": "02517-2) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12419304"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12419304"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ellen Wilch, Mei Zhu, Kirk B Burkhart, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/505333"}], "href": "https://doi.org/10.1086/505333"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16773579"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16773579"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Chunyan Qu, Phyllis Gardner, Iris Schrijver "}, {"type": "b", "children": [{"type": "t", "text": "The role of the cytoskeleton in the formation of gap junctions by Connexin 30."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Cell Res (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yexcr.2009.03.001"}], "href": "https://doi.org/10.1016/j.yexcr.2009.03.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19285977"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19285977"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "E Wilch, H Azaiez, R A Fisher, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2010.01387.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2010.01387.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20236118"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20236118"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Martina Beltramello, Massimiliano Bicego, Valeria Piazza, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0006-291x(03)00868-4"}], "href": "https://doi.org/10.1016/s0006-291x(03"}, {"type": "t", "text": "00868-4) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12767933"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12767933"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Johanna M Brandner, Pia Houdek, Birgit Hüsing, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Connexins 26, 30, and 43: differences among spontaneous, chronic, and accelerated human wound healing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.0022-202X.2004.22529.x"}], "href": "https://doi.org/10.1111/j.0022-202X.2004.22529.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15140236"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15140236"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Melanie Schütz, Pietro Scimemi, Paromita Majumder, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddq402"}], "href": "https://doi.org/10.1093/hmg/ddq402"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20858605"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20858605"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Francesco Zonta, Guido Polles, Giuseppe Zanotti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Permeation pathway of homomeric connexin 26 and connexin 30 channels investigated by molecular dynamics."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biomol Struct Dyn (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/073911012010525027"}], "href": "https://doi.org/10.1080/073911012010525027"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22292956"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22292956"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Randy F Stout, Erik Lee Snapp, David C Spray "}, {"type": "b", "children": [{"type": "t", "text": "Connexin Type and Fluorescent Protein Fusion Tag Determine Structural Stability of Gap Junction Plaques."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M115.659979"}], "href": "https://doi.org/10.1074/jbc.M115.659979"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26265468"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26265468"}]}]}]}
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| Synonyms | HED2, ED2, EDH, ECTD2, DFNA3B, CX30, DFNB1B |
| Proteins | CXB6_HUMAN |
| NCBI Gene ID | 10804 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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GJB6 has 5,420 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 105 datasets.
Click the + buttons to view associations for GJB6 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of GJB6 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of GJB6 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of GJB6 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of GJB6 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of GJB6 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of GJB6 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of GJB6 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of GJB6 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with GJB6 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of GJB6 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of GJB6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of GJB6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with GJB6 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with GJB6 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing GJB6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing GJB6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with GJB6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with GJB6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| CORUM Protein Complexes | protein complexs containing GJB6 protein from the CORUM Protein Complexes dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of GJB6 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with GJB6 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| CTD Gene-Disease Associations | diseases associated with GJB6 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by GJB6 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving GJB6 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving GJB6 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with GJB6 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with GJB6 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with GJB6 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with GJB6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with GJB6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at GJB6 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of GJB6 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of GJB6 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing GJB6 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GAD Gene-Disease Associations | diseases associated with GJB6 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
| GAD High Level Gene-Disease Associations | diseases associated with GJB6 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with GJB6 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing GJB6 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of GJB6 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of GJB6 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of GJB6 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of GJB6 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of GJB6 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of GJB6 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving GJB6 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving GJB6 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving GJB6 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing GJB6 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing GJB6 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing GJB6 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by GJB6 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by GJB6 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of GJB6 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of GJB6 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of GJB6 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of GJB6 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| Guide to Pharmacology Chemical Ligands of Receptors | ligands (chemical) binding GJB6 receptor from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with GJB6 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with GJB6 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with GJB6 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of GJB6 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of GJB6 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of GJB6 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of GJB6 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with GJB6 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| HuBMAP Azimuth Cell Type Annotations | cell types associated with GJB6 gene from the HuBMAP Azimuth Cell Type Annotations dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with GJB6 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for GJB6 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of GJB6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of GJB6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of GJB6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| KEGG Pathways | pathways involving GJB6 protein from the KEGG Pathways dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of GJB6 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of GJB6 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Curated Protein Localization Annotations | cellular components containing GJB6 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain GJB6 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by GJB6 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting GJB6 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of GJB6 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by GJB6 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
| MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of GJB6 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with GJB6 gene from the curated OMIM Gene-Disease Associations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for GJB6 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of GJB6 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of GJB6 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving GJB6 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving GJB6 protein from the Wikipathways PFOCR 2024 dataset. | |
| Reactome Pathways 2014 | pathways involving GJB6 protein from the Reactome Pathways dataset. | |
| Reactome Pathways 2024 | pathways involving GJB6 protein from the Reactome Pathways 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of GJB6 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at GJB6 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of GJB6 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of GJB6 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of GJB6 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of GJB6 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of GJB6 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of GJB6 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of GJB6 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of GJB6 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of GJB6 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of GJB6 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with GJB6 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with GJB6 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2014 | pathways involving GJB6 protein from the Wikipathways Pathways 2014 dataset. | |
| WikiPathways Pathways 2024 | pathways involving GJB6 protein from the WikiPathways Pathways 2024 dataset. | |
