GJA3 (gap junction protein alpha 3)

Gene

• Entrez ID: 2700
• Gene name: Gap junction protein alpha 3
• Gene symbol: GJA3
• Synonyms: CTRCT14, CX46, CZP3
• Chromosome: 13
• Chromosome location: 13q12.11
• Summary: The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917823	T>C	Pathogenic	Missense variant, coding sequence variant
rs121917825	G>A	Pathogenic	Missense variant, coding sequence variant
rs121917827	C>T	Pathogenic	Missense variant, coding sequence variant
rs140332366	T>A,C,G	Pathogenic	Missense variant, coding sequence variant
rs397514703	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514704	A>T	Pathogenic	Coding sequence variant, missense variant
rs398122937	C>T	Pathogenic	Coding sequence variant, missense variant
rs864309687	G>A	Pathogenic	Coding sequence variant, missense variant
rs864309691	G>A	Pathogenic	Coding sequence variant, missense variant
rs864309694	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs981126461	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1114167307	G>A	Pathogenic	Coding sequence variant, missense variant
rs1114167308	T>G	Pathogenic	Coding sequence variant, missense variant
rs1593332981	->G	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045585	hsa-miR-149-5p	CLASH	23622248
MIRT1019627	hsa-miR-106a	CLIP-seq
MIRT1019628	hsa-miR-106b	CLIP-seq
MIRT1019629	hsa-miR-1245	CLIP-seq
MIRT1019630	hsa-miR-1256	CLIP-seq
MIRT1019631	hsa-miR-1271	CLIP-seq
MIRT1019632	hsa-miR-129-5p	CLIP-seq
MIRT1019633	hsa-miR-1297	CLIP-seq
MIRT1019634	hsa-miR-1305	CLIP-seq
MIRT1019635	hsa-miR-130a	CLIP-seq
MIRT1019636	hsa-miR-130b	CLIP-seq
MIRT1019637	hsa-miR-17	CLIP-seq
MIRT1019638	hsa-miR-182	CLIP-seq
MIRT1019639	hsa-miR-193a-3p	CLIP-seq
MIRT1019640	hsa-miR-193b	CLIP-seq
MIRT1019641	hsa-miR-200b	CLIP-seq
MIRT1019642	hsa-miR-200c	CLIP-seq
MIRT1019643	hsa-miR-20a	CLIP-seq
MIRT1019644	hsa-miR-20b	CLIP-seq
MIRT1019645	hsa-miR-26a	CLIP-seq
MIRT1019646	hsa-miR-26b	CLIP-seq
MIRT1019647	hsa-miR-301a	CLIP-seq
MIRT1019648	hsa-miR-301b	CLIP-seq
MIRT1019649	hsa-miR-3136-5p	CLIP-seq
MIRT1019650	hsa-miR-338-5p	CLIP-seq
MIRT1019651	hsa-miR-3591-5p	CLIP-seq
MIRT1019652	hsa-miR-3606	CLIP-seq
MIRT1019653	hsa-miR-3609	CLIP-seq
MIRT1019654	hsa-miR-361-3p	CLIP-seq
MIRT1019655	hsa-miR-3614-5p	CLIP-seq
MIRT1019656	hsa-miR-3663-3p	CLIP-seq
MIRT1019657	hsa-miR-3666	CLIP-seq
MIRT1019658	hsa-miR-429	CLIP-seq
MIRT1019659	hsa-miR-4290	CLIP-seq
MIRT1019660	hsa-miR-4295	CLIP-seq
MIRT1019661	hsa-miR-4434	CLIP-seq
MIRT1019662	hsa-miR-4439	CLIP-seq
MIRT1019663	hsa-miR-4465	CLIP-seq
MIRT1019664	hsa-miR-4470	CLIP-seq
MIRT1019665	hsa-miR-4473	CLIP-seq
MIRT1019666	hsa-miR-4513	CLIP-seq
MIRT1019667	hsa-miR-4516	CLIP-seq
MIRT1019668	hsa-miR-4531	CLIP-seq
MIRT1019669	hsa-miR-454	CLIP-seq
MIRT1019670	hsa-miR-4671-3p	CLIP-seq
MIRT1019671	hsa-miR-4699-3p	CLIP-seq
MIRT1019672	hsa-miR-4720-5p	CLIP-seq
MIRT1019673	hsa-miR-4735-5p	CLIP-seq
MIRT1019674	hsa-miR-4775	CLIP-seq
MIRT1019675	hsa-miR-4796-3p	CLIP-seq
MIRT1019676	hsa-miR-4799-3p	CLIP-seq
MIRT1019677	hsa-miR-483-3p	CLIP-seq
MIRT1019678	hsa-miR-498	CLIP-seq
MIRT1019679	hsa-miR-519d	CLIP-seq
MIRT1019680	hsa-miR-548ah	CLIP-seq
MIRT1019681	hsa-miR-548n	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT1019683	hsa-miR-561	CLIP-seq
MIRT1019684	hsa-miR-587	CLIP-seq
MIRT1019685	hsa-miR-590-3p	CLIP-seq
MIRT1019686	hsa-miR-599	CLIP-seq
MIRT1019687	hsa-miR-668	CLIP-seq
MIRT1019688	hsa-miR-892b	CLIP-seq
MIRT1019689	hsa-miR-921	CLIP-seq
MIRT1019690	hsa-miR-93	CLIP-seq
MIRT1019691	hsa-miR-943	CLIP-seq
MIRT1019692	hsa-miR-96	CLIP-seq
MIRT2001951	hsa-miR-1208	CLIP-seq
MIRT2001952	hsa-miR-1238	CLIP-seq
MIRT2001953	hsa-miR-138	CLIP-seq
MIRT2001954	hsa-miR-3689d	CLIP-seq
MIRT2001955	hsa-miR-4325	CLIP-seq
MIRT2001956	hsa-miR-4443	CLIP-seq
MIRT2001957	hsa-miR-4456	CLIP-seq
MIRT2001958	hsa-miR-452	CLIP-seq
MIRT2001959	hsa-miR-4676-3p	CLIP-seq
MIRT2001960	hsa-miR-4686	CLIP-seq
MIRT2001961	hsa-miR-4747-5p	CLIP-seq
MIRT2001962	hsa-miR-519a	CLIP-seq
MIRT2001963	hsa-miR-519b-3p	CLIP-seq
MIRT2001964	hsa-miR-519c-3p	CLIP-seq
MIRT2001965	hsa-miR-541	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT2001966	hsa-miR-595	CLIP-seq
MIRT2001967	hsa-miR-654-5p	CLIP-seq
MIRT2001968	hsa-miR-659	CLIP-seq
MIRT2001969	hsa-miR-9	CLIP-seq
MIRT2235001	hsa-miR-3150b-3p	CLIP-seq
MIRT2001954	hsa-miR-3689d	CLIP-seq
MIRT2235002	hsa-miR-3921	CLIP-seq
MIRT2235003	hsa-miR-4258	CLIP-seq
MIRT2235004	hsa-miR-4436a	CLIP-seq
MIRT2001956	hsa-miR-4443	CLIP-seq
MIRT2235005	hsa-miR-4649-3p	CLIP-seq
MIRT2235006	hsa-miR-4653-5p	CLIP-seq
MIRT2235007	hsa-miR-4689	CLIP-seq
MIRT1019674	hsa-miR-4775	CLIP-seq
MIRT2235008	hsa-miR-4784	CLIP-seq
MIRT1019675	hsa-miR-4796-3p	CLIP-seq
MIRT2235009	hsa-miR-515-5p	CLIP-seq
MIRT2235010	hsa-miR-539	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT1019685	hsa-miR-590-3p	CLIP-seq
MIRT2235011	hsa-miR-593	CLIP-seq
MIRT2001966	hsa-miR-595	CLIP-seq
MIRT2235012	hsa-miR-888	CLIP-seq
MIRT2001954	hsa-miR-3689d	CLIP-seq
MIRT2001956	hsa-miR-4443	CLIP-seq
MIRT2388470	hsa-miR-548ac	CLIP-seq
MIRT2388471	hsa-miR-548ae	CLIP-seq
MIRT2388472	hsa-miR-548aj	CLIP-seq
MIRT2388473	hsa-miR-548am	CLIP-seq
MIRT2388474	hsa-miR-548d-3p	CLIP-seq
MIRT1019682	hsa-miR-548t	CLIP-seq
MIRT2388475	hsa-miR-548x	CLIP-seq
MIRT2388476	hsa-miR-548z	CLIP-seq
MIRT2001966	hsa-miR-595	CLIP-seq
MIRT2388477	hsa-miR-646	CLIP-seq
MIRT2450284	hsa-miR-3123	CLIP-seq
MIRT2450285	hsa-miR-3925-5p	CLIP-seq
MIRT2450286	hsa-miR-4759	CLIP-seq
MIRT2538852	hsa-miR-4263	CLIP-seq
MIRT2538853	hsa-miR-548a-3p	CLIP-seq
MIRT2538854	hsa-miR-548e	CLIP-seq
MIRT2538855	hsa-miR-548f	CLIP-seq
MIRT2538856	hsa-miR-576-5p	CLIP-seq
MIRT2538852	hsa-miR-4263	CLIP-seq
MIRT2538853	hsa-miR-548a-3p	CLIP-seq
MIRT2538854	hsa-miR-548e	CLIP-seq
MIRT2538855	hsa-miR-548f	CLIP-seq
MIRT2538856	hsa-miR-576-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	30044662
GO:0005922	Component	Connexin complex	IBA	21873635
GO:0005922	Component	Connexin complex	IDA	30044662
GO:0007267	Process	Cell-cell signaling	IBA	21873635
GO:0007601	Process	Visual perception	IEA
GO:0055077	Function	Gap junction hemi-channel activity	IDA	30044662
GO:0055085	Process	Transmembrane transport	IEA
GO:1990349	Process	Gap junction-mediated intercellular transport	IDA	30044662

Other IDs

• MIM: 121015
• HGNC: 4277
• e!Ensembl: ENSG00000121743

Protein

• UniProt ID: Q9Y6H8
• Protein name: Gap junction alpha-3 protein (Connexin-46) (Cx46)
• Protein function: Structural component of lens fiber gap junctions (PubMed:30044662). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). 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 → 227	Connexin	Family

• Sequence:

  MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPG
  CENVCYDRAFPISHIRFWALQIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESP
  SPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFEVGFIAGQYFLYGFELKPLYR
  CDRWPCPNTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGP
  DASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLL
  ALTEARGKGQSAKLYNGHHHLLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSP
  PLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTTAAQMHQPPLPLGDPGRASKA
  SRASSGRARPEDLAI

• Sequence length: 435

Pathways

Reactome:

Gap junction assembly

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Nuclear cataract, Nuclear non-senile cataract, Cataract, Pulverulent, CATARACT, COPPOCK-LIKE, CATARACT, MARNER TYPE, Cataract, Zonular Pulverulent 3, Early-onset nuclear cataract, Early-onset posterior polar 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	16234473, 21552498, 20431721, 20431721, 21552498, 16234473, 22876138, 20431721, 21681855, 15286166, 16971895, 21552498, 24772942, 26683566, 16254549, 22312188, 15448617, 15208569, 25635993, 21647269, 14627959, 30044662, 10746562, 16234473, 10205266, 17893674, 17615540, 21897748, 16885921

Unknown
Disease name	Disease term	dbSNP ID	References
Capsular cataract	Posterior subcapsular cataract		21031021
Congenital cataract	Congenital cataract, Congenital lamellar cataract		26694549
Pulverulent cataract	Pulverulent cataract