Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
rs864309684	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs864309688	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs864309703	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1114167309	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1553242554	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018805	hsa-miR-335-5p	Microarray	18185580

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
GO:0005886	Component	Plasma membrane	IDA	19756179, 26004348
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IDA	19756179
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0016020	Component	Membrane	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:1990349	Process	Gap junction-mediated intercellular transport	IBA
GO:1990349	Process	Gap junction-mediated intercellular transport	IDA	19756179
GO:1990349	Process	Gap junction-mediated intercellular transport	IEA

MIM	HGNC	e!Ensembl
600897	4281	ENSG00000121634

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

MGDWSFLGNILEEVNEHSTVIGRVWLTVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPG
CENVCYDEAFPISHIRLWVLQIIFVSTPSLMYVGHAVHYVRMEEKRKSREAEELGQQAGT
NGGPDQGSVKKSSGSKGTKKFRLEGTLLRTYICHIIFKTLFEVGFIVGHYFLYGFRILPL
YRCSRWPCPNVVDCFVSRPTEKTIFILFMLSVASVSLFLNVMELGHLGLKGIRSALKRPV
EQPLGEIPEKSLHSIAVSSIQKAKGYQLLEEEKIVSHYFPLTEVGMVETSPLPAKPFNQF
EEKISTGPLGDLSRGYQETLPSYAQVGAQEVEGEGPPAEEGAEPEVGEKKEEAERLTTEE
QEKVAVPEGEKVETPGVDKEGEKEEPQSEKVSKQGLPAEKTPSLCPELTTDDARPLSRLS
KASSRARSDDLTV

Sequence length

433

Interactions

View interactions

	Reactome
			Gap junction assembly

251

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
acorea,microphthalmia and cataract syndrome	Likely pathogenic	rs2524889140	RCV003388141
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 RCV002246207 RCV003096328 RCV002848319 RCV004589870 RCV000644439 RCV003029062 RCV000009259 RCV000009262 RCV000009265 RCV003152913 RCV004591110 RCV003485938 RCV004593262 RCV003619947 RCV003620750 RCV003621217 RCV004593584 RCV004593590 RCV004593596 RCV004593598 RCV004593599 RCV004593635 RCV004593636 RCV004593644 RCV004593645 RCV004593648 RCV004593652 RCV004593653 RCV000696271 RCV000812056 RCV000805199 RCV001049034 RCV001044428 RCV001055109 RCV001068183 RCV001207827
Developmental cataract	Likely pathogenic; Pathogenic	rs2149015335, rs864309684, rs864309688	RCV001775015 RCV000203335 RCV000203313
GJA8-related disorder	Likely pathogenic; Pathogenic	rs864309688	RCV003897434
Microphthalmia	Likely pathogenic	rs2524889317	RCV002291344

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
acorea-microphthalmia-cataract syndrome	Conflicting classifications of pathogenicity	rs864309703	RCV003312994
Anterior segment dysgenesis	Conflicting classifications of pathogenicity	rs1651887395, rs1651887603	RCV001200028 RCV001200023
Chromosome 1q21.1 deletion syndrome	Likely benign; Uncertain significance	rs138140155, rs1553242966	RCV002478715 RCV001198872
Microphthalmia and cataract	Uncertain significance	rs864309703	RCV000587821
Zonular Pulverulent Cataract	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs138140155, rs3766503, rs377431608, rs782584748, rs201476382, rs142376567, rs587768589, rs886045254, rs782056871, rs782298787, rs782213276, rs886045253, rs142415337, rs886045255, rs143688085, rs587673409, rs781808729, rs34123490 View all (3 more)	RCV000260914 RCV000340488 RCV000402318 RCV000312296 RCV000318245 RCV000308779 RCV000394279 RCV000310371 RCV000277824 RCV000360114 RCV000306664 RCV000363708 RCV000333662 RCV000286355 RCV000347339 RCV000262293 RCV000372930 RCV000378022

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Cataract zonular	Associate	23555834
Cataract Zonular Pulverulent 1	Associate	10205266, 9497259
Chromosome Aberrations	Associate	16397066, 17601931, 20019893, 23555834
Corneal Opacity	Associate	18587493
Eye Diseases	Associate	24281366
Genetic Diseases Inborn	Associate	9497259
Heart Defects Congenital	Associate	34059112
Lymphedema	Associate	38052906
Microphthalmia Isolated with Cataract 1	Associate	38052906
Microphthalmos	Associate	26694549, 38052906
Myopia	Associate	16604058, 21686328
Neoplastic Syndromes Hereditary	Associate	23734083, 31842807
Sclerocornea	Associate	26694549

GJA8 (gap junction protein alpha 8)