GJE1 (gap junction protein epsilon 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 100126572
Gene name Gap junction protein epsilon 1
Gene symbol GJE1
Synonyms (NCBI Gene)
CX23
Chromosome 6
Chromosome location 6q24.1
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT021835 hsa-miR-132-3p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0002088 Process Lens development in camera-type eye IEA
GO:0005243 Function Gap junction channel activity IBA
GO:0005886 Component Plasma membrane IEA
GO:0005922 Component Connexin complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NN92
Protein name Gap junction epsilon-1 protein (Connexin-23) (Cx23)
Protein function Mediates calcium-independent ATP release, suggesting activity as a hemichannel. Does not form functional gap junctions.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00029 Connexin 2 → 109 Connexin Family
PF00029 Connexin 101 → 196 Connexin Family
Tissue specificity TISSUE SPECIFICITY: Not detected in lens or retina. {ECO:0000269|PubMed:18849090}.
Sequence 
MSLNYIKNFYEGCVKPPTVIGQFHTLFFGSIRIFFLGVLGFAVYGNEALHFICDPDKREV
NLFCYNQFRPITPQVSFSALQLVIVLVPGALFHLYAACKSINQECILQKPIYTIIYILSV
LLRISLAAIAFWLQIYLFGFQVKSLYLCDARSLGENMIIRCMVPEHFEKTIFLIAINTFT
TITILLFVAEIFEIIFRRLYFPFRQ
Sequence length 205
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES — CTD 21228734
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Hearing Loss Sensorineural Hearing loss Pubtator 25663387 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 30613335
★★★★★
★☆☆☆☆
Found in Text Mining only
Peripheral Nervous System Diseases Nervous System Diseases BEFREE 21228734
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases Nervous System Diseases CTD_human_DG 21228734
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Peripheral Neuropathy Peripheral Neuropathy BEFREE 21228734
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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DYNC1I1 3 shared diseasesNon-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy 3 shared evidence sourcesDisgenet (Non-neoplastic peripheral nervous system disease), CTD (Peripheral nervous system disease), Disgenet (Peripheral neuropathy) Related via 3 shared diseases including Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease — evidence mostly Disgenet. SERPINB2 3 shared diseasesNon-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy 3 shared evidence sourcesDisgenet (Non-neoplastic peripheral nervous system disease), CTD (Peripheral nervous system disease), Disgenet (Peripheral neuropathy) Related via 3 shared diseases including Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease — evidence mostly Disgenet. PSMB1 3 shared diseasesNon-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy 3 shared evidence sourcesDisgenet (Non-neoplastic peripheral nervous system disease), CTD (Peripheral nervous system disease), Disgenet (Peripheral neuropathy) Related via 3 shared diseases including Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease — evidence mostly Disgenet. SOX8 3 shared diseasesNon-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy 3 shared evidence sourcesDisgenet (Non-neoplastic peripheral nervous system disease), CTD (Peripheral nervous system disease), Disgenet (Peripheral neuropathy) Related via 3 shared diseases including Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease — evidence mostly Disgenet. XK 3 shared diseasesNon-neoplastic peripheral nervous system disease, Peripheral nervous system disease, Peripheral neuropathy 3 shared evidence sourcesDisgenet (Non-neoplastic peripheral nervous system disease), CTD (Peripheral nervous system disease), Disgenet (Peripheral neuropathy) Related via 3 shared diseases including Non-neoplastic peripheral nervous system disease, Peripheral nervous system disease — evidence mostly Disgenet.
Osteoarthritis Linked via 2 of 5 related genesDYNC1I1, PSMB1 Neurodevelopmental disorder Linked via 2 of 5 related genesPSMB1, SOX8 Alzheimer disease Linked via 1 of 5 related genesDYNC1I1 Astrocytoma Linked via 1 of 5 related genesDYNC1I1 Dementia Linked via 1 of 5 related genesDYNC1I1