GJE1 (gap junction protein epsilon 1)

Gene

• Entrez ID: 100126572
• Gene name: Gap junction protein epsilon 1
• Gene symbol: GJE1
• Synonyms (NCBI Gene): CX23
• Chromosome: 6
• Chromosome location: 6q24.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021835	hsa-miR-132-3p	Microarray	17612493

Gene ontology (GO)

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
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0016020	Component	Membrane	IEA
GO:0035265	Process	Organ growth	IEA
GO:0055085	Process	Transmembrane transport	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: 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

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from 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