GJA8 (gap junction protein alpha 8)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2703
Gene name Gene Name - the full gene name approved by the HGNC.
Gap junction protein alpha 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GJA8
Synonyms (NCBI Gene) Gene synonyms aliases
CAE, CAE1, CTRCT1, CX50, CZP1, MP70
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs80358201 G>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs80358203 G>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs80358204 T>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs121434643 G>A,C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs864309677 C>T Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT018805 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0002088 Process Lens development in camera-type eye IEA
GO:0005243 Function Gap junction channel activity IBA
GO:0005243 Function Gap junction channel activity IDA 19756179
GO:0005243 Function Gap junction channel activity IEA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600897 4281 ENSG00000121634
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P48165
Protein name Gap junction alpha-8 protein (Connexin-50) (Cx50) (Lens fiber protein MP70)
Protein function Structural component of eye lens gap junctions (PubMed:18006672, PubMed:19756179). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00029 Connexin 3 → 229 Connexin Family
PF03509 Connexin50 260 → 326 Gap junction alpha-8 protein (Cx50) Family
Tissue specificity TISSUE SPECIFICITY: Eye lens. {ECO:0000269|PubMed:19756179}.
Sequence
Sequence length 433
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Gap junction assembly
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cataract Cataract 1 multiple types, Developmental cataract rs864309684, rs864309688, rs121434643, rs1307969607, rs1571175950, rs1651879427, rs80358200, rs1651881222, rs80358203, rs1651919374 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Microcornea cataract - microcornea syndrome N/A N/A GenCC
Pulverulent Cataract pulverulent cataract N/A N/A GenCC
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anterior segment mesenchymal dysgenesis Associate 39870121
Autistic Disorder Associate 32499604
Axial osteomalacia Associate 21686328
Cataract Associate 10205266, 16397066, 16604058, 17110920, 17601931, 18326694, 18334946, 18334966, 18483562, 18587493, 19073179, 19262743, 19649175, 19756179, 20019893
View all (34 more)
Cataract Age Related Nuclear Associate 21386927, 30349978
Cataract Autosomal Dominant Associate 19649175, 22312188, 25301372, 27216975, 28827829, 31844091
Cataract Autosomal Dominant Nuclear Associate 18326694, 20019893, 25517998, 30928190
Cataract microcornea syndrome Associate 16604058, 18334946, 20806042, 21686328
Cataract Nuclear Progressive Associate 19649175, 23592913, 30928190, 35428228
Cataract Pulverulent Associate 16397066, 18334966, 23592913