| HGNC Family | Ion channels |
| Name | gap junction protein, alpha 8, 50kDa |
| Description | This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The GJA8 gene encodes the gap junction protein connexin50 (Cx50), which plays a critical role in the ocular lens by establishing robust intercellular communication between lens fiber cells. Cx50‐mediated gap junction channels are essential for maintaining lens homeostasis, promoting normal cell proliferation and differentiation, and thereby ensuring lens transparency and proper ocular growth."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Functional studies have demonstrated that loss of Cx50—either by targeted deletion or by mutations in GJA8—leads to cataracts, microphthalmia, and other ocular abnormalities. In mouse models, deletion of Cx50 results in smaller lenses with disrupted fiber cell mitosis and abnormal differentiation, whereas targeted replacement experiments reveal that the unique properties of Cx50 are required to drive normal lens growth."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Several studies have identified GJA8 mutations that lead to congenital cataracts (with or without microcornea), often due to loss of gap junction function resulting from protein misfolding, impaired trafficking, or dominant-negative interactions. For example, missense mutations such as P88Q, D47N, V44E, R198Q, and G46V in GJA8 compromise Cx50 channel function by either preventing proper membrane targeting or by altering channel gating and permeability, which ultimately disrupts intercellular communication and induces lens cell death."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, biophysical analyses indicate that specific structural domains of Cx50, such as its C-terminal and intracellular loop regions, underlie its regulatory responses to physiological cues—like pH changes and intracellular signaling—that modulate channel gating and permeability. These features underscore the connexin‐specific role of Cx50 in lens physiology, distinguishing it from other connexins (e.g. by its exclusion from certain membrane microdomains) and emphasizing its non‐redundant contribution to ocular development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its well‐characterized function in the lens, alterations in GJA8 dosage—such as those observed in microdeletions encompassing GJA8 along with other genes—have been implicated in congenital heart defects, suggesting that Cx50 may have broader developmental roles, although its primary recognized function is in the ocular lens."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, the evidence from these studies indicates that GJA8 is indispensable for normal lens formation and transparency, and that mutations disrupting the function of its protein product, connexin50, lead to cataractogenesis and associated ocular anomalies.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "T W White, D A Goodenough, D L Paul "}, {"type": "b", "children": [{"type": "t", "text": "Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (1998)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.143.3.815"}], "href": "https://doi.org/10.1083/jcb.143.3.815"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "9813099"}], "href": "https://pubmed.ncbi.nlm.nih.gov/9813099"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Thomas W White "}, {"type": "b", "children": [{"type": "t", "text": "Unique and redundant connexin contributions to lens development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1067582"}], "href": "https://doi.org/10.1126/science.1067582"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11786642"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11786642"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Caterina Sellitto, Leping Li, Thomas W White "}, {"type": "b", "children": [{"type": "t", "text": "Connexin50 is essential for normal postnatal lens cell proliferation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.04-0194"}], "href": "https://doi.org/10.1167/iovs.04-0194"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15326140"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15326140"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Lars Hansen, Wenliang Yao, Hans Eiberg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.07-0013"}], "href": "https://doi.org/10.1167/iovs.07-0013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17724170"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17724170"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ramachandran Ramya Devi, Perumalsamy Vijayalakshmi "}, {"type": "b", "children": [{"type": "t", "text": "Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2006)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16604058"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16604058"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "A Arora, P J Minogue, X Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2005.034108"}], "href": "https://doi.org/10.1136/jmg.2005.034108"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16397066"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16397066"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Peter J Minogue, Jun-Jie Tong, Anita Arora, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A mutant connexin50 with enhanced hemichannel function leads to cell death."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.09-3759"}], "href": "https://doi.org/10.1167/iovs.09-3759"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19684000"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19684000"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "A Arora, P J Minogue, X Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2007.051029"}], "href": "https://doi.org/10.1136/jmg.2007.051029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18006672"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18006672"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Anne-Lane Schubert, William Schubert, David C Spray, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Connexin family members target to lipid raft domains and interact with caveolin-1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi0121656"}], "href": "https://doi.org/10.1021/bi0121656"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11980479"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11980479"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "X Xu, V M Berthoud, E C Beyer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Membr Biol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00232-001-0139-5"}], "href": "https://doi.org/10.1007/s00232-001-0139-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11944087"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11944087"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Jesse Christiansen, John D Dyck, Basil G Elyas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circ Res (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/01.RES.0000130528.72330.5c"}], "href": "https://doi.org/10.1161/01.RES.0000130528.72330.5c"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15117819"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15117819"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, et al. "}, {"type": "b", "children": [{"type": "t", "text": "New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-018-1875-2"}], "href": "https://doi.org/10.1007/s00439-018-1875-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29464339"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29464339"}]}]}]}
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| Synonyms | CX50, CAE1, MP70, CTRCT1, CZP1, CAE |
| Proteins | CXA8_HUMAN |
| NCBI Gene ID | 2703 |
| 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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GJA8 has 2,964 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 90 datasets.
Click the + buttons to view associations for GJA8 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 GJA8 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 GJA8 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of GJA8 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of GJA8 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of GJA8 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of GJA8 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 GJA8 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 GJA8 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of GJA8 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of GJA8 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 GJA8 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 GJA8 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of GJA8 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing GJA8 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing GJA8 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with GJA8 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 GJA8 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of GJA8 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with GJA8 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with GJA8 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| CTD Gene-Disease Associations | diseases associated with GJA8 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| dbGAP Gene-Trait Associations | traits associated with GJA8 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by GJA8 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving GJA8 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving GJA8 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with GJA8 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 GJA8 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 GJA8 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 GJA8 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with GJA8 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 GJA8 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 GJA8 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of GJA8 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 GJA8 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GAD Gene-Disease Associations | diseases associated with GJA8 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
| GAD High Level Gene-Disease Associations | diseases associated with GJA8 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
| GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of GJA8 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with GJA8 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 GJA8 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of GJA8 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 GJA8 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 GJA8 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 GJA8 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of GJA8 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving GJA8 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing GJA8 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing GJA8 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing GJA8 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by GJA8 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by GJA8 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by GJA8 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of GJA8 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 GJA8 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| Guide to Pharmacology Chemical Ligands of Receptors | ligands (chemical) binding GJA8 receptor from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with GJA8 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with GJA8 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 GJA8 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with GJA8 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with GJA8 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by GJA8 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for GJA8 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of GJA8 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| KEGG Pathways | pathways involving GJA8 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 GJA8 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 GJA8 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of GJA8 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LOCATE Curated Protein Localization Annotations | cellular components containing GJA8 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 GJA8 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by GJA8 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting GJA8 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 GJA8 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 GJA8 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
| MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of GJA8 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with GJA8 gene from the curated OMIM Gene-Disease Associations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for GJA8 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of GJA8 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| Phosphosite Textmining Biological Term Annotations | biological terms co-occuring with GJA8 protein in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. | |
| Reactome Pathways 2014 | pathways involving GJA8 protein from the Reactome Pathways dataset. | |
| Reactome Pathways 2024 | pathways involving GJA8 protein from the Reactome Pathways 2024 dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at GJA8 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of GJA8 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of GJA8 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of GJA8 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of GJA8 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 GJA8 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of GJA8 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with GJA8 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 GJA8 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2014 | pathways involving GJA8 protein from the Wikipathways Pathways 2014 dataset. | |
| WikiPathways Pathways 2024 | pathways involving GJA8 protein from the WikiPathways Pathways 2024 dataset. | |
