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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 nameGene Name - the full gene name approved by the HGNC.
Gap junction protein alpha 8
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GJA8
SynonymsGene synonyms aliases
CAE, CAE1, CTRCT1, CX50, CZP1, MP70
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0002088 Process Lens development in camera-type eye IEA
GO:0005243 Function Gap junction channel activity IBA 21873635
GO:0005243 Function Gap junction channel activity IDA 19756179
GO:0005515 Function Protein binding IPI 32296183
GO:0005887 Component Integral component of plasma membrane IDA 19756179
Other IDsOther 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
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
Sequence
Sequence length 433
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Gap junction assembly
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Bicuspid aortic valve Bicuspid aortic valve rs1569484234, rs1569484208
Cataract Cataract, Embryonal nuclear cataract (disorder), Nuclear cataract, Pseudoaphakia, Nuclear non-senile cataract, Cataract, Pulverulent, CATARACT, COPPOCK-LIKE, Cataract, Central Saccular, With Sutural Opacities, Cataract, Zonular Pulverulent 1, Cataract microcornea syndrome, Early-onset sutural cataract, Early-onset nuclear cataract, Total early-onset cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692 9497259, 24384146, 14627691, 18006672, 18587493, 26694549, 11846744, 23508780, 18006672, 18334946, 21174522, 9497259, 16604058, 16234473, 21228318, 14627691, 21921990, 25003127, 10480374, 20806042, 17724170, 16604058
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Unknown
Disease name Disease term dbSNP ID References
Aortic coarctation Aortic coarctation
Capsular cataract Posterior subcapsular cataract
Cataract-microcornea syndrome Cataract-microcornea syndrome
Congenital cataract Congenital cataract, Congenital total cataract 26694549, 17601931

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