GJE1 Gene

HGNC Family Ion channels
Name gap junction protein, epsilon 1, 23kDa
Description Predicted to enable gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to act upstream of or within cell morphogenesis; lens development in camera-type eye; and organ growth. Predicted to be located in plasma membrane. Predicted to be part of connexin complex. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The GJE1 gene in mice encodes a connexin protein, commonly referred to as connexin23, which displays several unusual features compared with other connexins. Unlike typical connexins that assemble into gap junction plaques and form intercellular channels, the protein encoded by GJE1 contains only four conserved cysteine residues in its extracellular loops and fails to form functional gap junction channels. Instead, studies in HeLa cells show that the protein is localized to the plasma membrane and is associated with significant ATP release, suggesting that it may operate via a hemichannel‐based mechanism."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Furthermore, in the cochlea of mice and rats, GJE1 (also described as the Cx29 gap junction protein epsilon 1) is widely expressed in key auditory structures—including cochlear neurons, spiral limbus, spiral ligament, the organ of Corti, and the stria vascularis—with higher mRNA levels observed in the spiral ligament and limbus. This distinct expression pattern implies that GJE1 might contribute to cochlear ion homeostasis or other aspects of auditory physiology and marks it as a candidate gene for deafness."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Stephan Sonntag, Goran Söhl, Radoslaw Dobrowolski, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mouse lens connexin23 (Gje1) does not form functional gap junction channels but causes enhanced ATP release from HeLa cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Cell Biol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejcb.2008.08.004"}], "href": "https://doi.org/10.1016/j.ejcb.2008.08.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18849090"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18849090"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jiann-Jou Yang, Pei-Ju Liao, Ching-Chyuan Su, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2005.09.193"}], "href": "https://doi.org/10.1016/j.bbrc.2005.09.193"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16236250"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16236250"}]}]}]}
Synonyms CX23
Proteins CXE1_HUMAN
NCBI Gene ID 100126572
API
Download Associations
Predicted Functions View GJE1's ARCHS4 Predicted Functions.
Co-expressed Genes View GJE1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View GJE1's ARCHS4 Predicted Functions.

Functional Associations

GJE1 has 575 functional associations with biological entities spanning 6 categories (molecular profile, functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 34 datasets.

Click the + buttons to view associations for GJE1 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of GJE1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
BioGPS Human Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of GJE1 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 GJE1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of GJE1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of GJE1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of GJE1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing GJE1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with GJE1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
CTD Gene-Disease Associations diseases associated with GJE1 gene/protein from the curated CTD Gene-Disease Associations dataset.
DGIdb Drug Targets 2026 interacting drugs for GJE1 protein from the DGIdb Drug Targets 2026 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with GJE1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with GJE1 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 GJE1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at GJE1 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 GJE1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of GJE1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GAD Gene-Disease Associations diseases associated with GJE1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
GAD High Level Gene-Disease Associations diseases associated with GJE1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing GJE1 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of GJE1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GO Cellular Component Annotations 2025 cellular components containing GJE1 protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by GJE1 gene from the curated GO Molecular Function Annotations 2025 dataset.
Guide to Pharmacology Chemical Ligands of Receptors ligands (chemical) binding GJE1 receptor from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of GJE1 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with GJE1 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of GJE1 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 GJE1 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 GJE1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by GJE1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MiRTarBase microRNA Targets microRNAs targeting GJE1 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.
MPO Gene-Phenotype Associations phenotypes of transgenic mice caused by GJE1 gene mutations from the MPO Gene-Phenotype Associations dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of GJE1 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of GJE1 gene from the RummaGEO Drug Perturbation Signatures dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with GJE1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.