GJC3 (gap junction protein gamma 3)

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Gene Gene information from NCBI Gene database.
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Entrez ID 349149
Gene name Gap junction protein gamma 3
Gene symbol GJC3
Synonyms (NCBI Gene)
CX29CX30.2CX31.3GJE1
Chromosome 7
Chromosome location 7q22.1
Summary This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated wit
miRNA miRNA information provided by mirtarbase database.
4
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miRTarBase ID miRNA Experiments Reference
MIRT2235052 hsa-miR-3189-3p CLIP-seq
MIRT2235053 hsa-miR-4268 CLIP-seq
MIRT2235054 hsa-miR-4520a-3p CLIP-seq
MIRT2235055 hsa-miR-4520b-3p CLIP-seq
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:0005243 Function Gap junction channel activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
GO:0005921 Component Gap junction 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
611925 17495 ENSG00000176402
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.
Q8NFK1
Protein name Gap junction gamma-3 protein (Connexin-30.2) (Cx30.2) (Connexin-31.3) (Cx31.3) (Gap junction epsilon-1 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 6L3T , 6L3U , 6L3V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00029 Connexin 2 → 215 Connexin Family
Tissue specificity TISSUE SPECIFICITY: CNS specific. Expression is restricted to brain, spinal cord, and sciatic nerve. According to PubMed:12881038, expression is abundant in skeletal muscle, liver, and heart, and to a minor degree in pancreas and kidney. {ECO:0000269|PubM
Sequence 
MCGRFLRRLLAEESRRSTPVGRLLLPVLLGFRLVLLAASGPGVYGDEQSEFVCHTQQPGC
KAACFDAFHPLSPLRFWVFQVILVAVPSALYMGFTLYHVIWHWELSGKGKEEETLIQGRE
GNTDVPGAGSLRLLWAYVAQLGARLVLEGAALGLQYHLYGFQMPSSFACRREPCLGSITC
NLSRPSEKTIFLKTMFGVSGFCLLFTFLELVLLGLGRWWRTWKHKSSSSKYFLTSESTRR
HKKATDSLPVVETKEQFQEAVPGRSLAQEKQRPVGPRDA
Sequence length 279
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
GJC3-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Variant of unknown significance Uncertain significance ClinVar —
★★★★★
★★☆☆☆
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 Hearing loss Pubtator 28367085, 32923625 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Nonsyndromic Deafness Nonsyndromic Deafness BEFREE 19657183, 19876648, 20593197, 20632892, 28367085
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for GJC3.

No additional diseases found yet through genes similar to GJC3.