Gene Gene information from NCBI Gene database.
Entrez ID 10052
Gene name Gap junction protein gamma 1
Gene symbol GJC1
Synonyms (NCBI Gene)
CX45GJA7
Chromosome 17
Chromosome location 17q21.31
Summary This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alte
miRNA miRNA information provided by mirtarbase database.
548
miRTarBase ID miRNA Experiments Reference
MIRT025645 hsa-miR-7-5p Microarray 19073608
MIRT037775 hsa-miR-671-3p CLASH 23622248
MIRT053733 hsa-miR-630 Microarray 22942087
MIRT1019851 hsa-miR-122 CLIP-seq
MIRT1019852 hsa-miR-1256 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0001570 Process Vasculogenesis IEA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005243 Function Gap junction channel activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608655 4280 ENSG00000182963
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36383
Protein name Gap junction gamma-1 protein (Connexin-45) (Cx45) (Gap junction alpha-7 protein)
Protein function One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
PDB 3SHW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00029 Connexin 2 255 Connexin Family
Sequence
Sequence length 396
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Electric Transmission Across Gap Junctions
Gap junction assembly
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs2509217977 RCV004560290
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Ischemia Associate 19794823
Colorectal Neoplasms Inhibit 21406965
Colorectal Neoplasms Associate 21636702
Dysferlinopathy Associate 27229680
Hereditary leiomyomatosis and renal cell cancer Associate 11379007
Inflammation Associate 25529637
Leukemia Myeloid Acute Associate 25529637
Myocardial Ischemia Associate 19794823
Nephrosis congenital Associate 32471989, 33172216
Osteoarthritis Stimulate 23416160