GJA8 (gap junction protein alpha 8)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2703
Gene name Gap junction protein alpha 8
Gene symbol GJA8
Synonyms (NCBI Gene)
CAECAE1CTRCT1CX50CZP1MP70
Chromosome 1
Chromosome location 1q21.2
Summary 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.
10
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.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600897 4281 ENSG00000121634
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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)
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
acorea,microphthalmia and cataract syndrome Likely pathogenic rs2524889140 RCV003388141
★★★★★
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ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 1 multiple types Likely pathogenic; Pathogenic rs2149015335, rs2149015516, rs983216627, rs2149015418, rs782199122, rs782184691, rs2524888666, rs864309684, rs864309688, rs2524889140, rs80358200, rs80358203, rs121434643, rs2524888892, rs2524888804
View all (17 more)		 RCV004590361
RCV004591569
RCV001940220
RCV002005986
RCV002246206
View all (36 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental cataract Likely pathogenic; Pathogenic rs2149015335, rs864309684, rs864309688 RCV001775015
RCV000203335
RCV000203313
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GJA8-related disorder Likely pathogenic; Pathogenic rs864309688 RCV003897434
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (30)
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 Evidence Score
acorea-microphthalmia-cataract syndrome Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anterior segment dysgenesis Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (102)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ADRENOCORTICAL CARCINOMA, HEREDITARY Adrenocortical carcinoma BEFREE 31844091
★★★★★
★☆☆☆☆
Found in Text Mining only
Anophthalmos Syndromic microphthalmia BEFREE 29461140
★★★★★
★☆☆☆☆
Found in Text Mining only
Anterior segment mesenchymal dysgenesis Anterior segment mesenchymal dysgenesis Pubtator 39870121 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aortic coarctation Aortic Coarctation HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 30212571
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 32499604 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Bicuspid aortic valve Bicuspid aortic valve HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20631064, 28505557
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 10205266, 16397066, 16604058, 17110920, 17601931, 18326694, 18334946, 18334966, 18483562, 18587493, 19073179, 19262743, 19649175, 19756179, 20019893
View all (34 more)		 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations