CXA3_HUMAN
ID CXA3_HUMAN Reviewed; 435 AA.
AC Q9Y6H8; Q0VAB7; Q9H537;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 4.
DT 03-AUG-2022, entry version 185.
DE RecName: Full=Gap junction alpha-3 protein;
DE AltName: Full=Connexin-46;
DE Short=Cx46;
GN Name=GJA3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS CTRCT14 SER-63 AND MET-299.
RC TISSUE=Lens fibers;
RX PubMed=10205266; DOI=10.1086/302383;
RA Mackay D., Ionides A., Kibar Z., Rouleau G., Berry V., Moore A., Shiels A.,
RA Bhattacharya S.;
RT "Connexin46 mutations in autosomal dominant congenital cataract.";
RL Am. J. Hum. Genet. 64:1357-1364(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT MET-299.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP VARIANT CTRCT14 LEU-187.
RX PubMed=10746562; DOI=10.1007/s004390051029;
RA Rees M.I., Watts P., Fenton I., Clarke A., Snell R.G., Owen M.J., Gray J.;
RT "Further evidence of autosomal dominant congenital zonular pulverulent
RT cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46
RT (GJA3).";
RL Hum. Genet. 106:206-209(2000).
RN [5]
RP VARIANT CTRCT14 LEU-32.
RX PubMed=14627959;
RA Jiang H., Jin Y., Bu L., Zhang W., Liu J., Cui B., Kong X., Hu L.;
RT "A novel mutation in GJA3 (connexin46) for autosomal dominant congenital
RT nuclear pulverulent cataract.";
RL Mol. Vis. 9:579-583(2003).
RN [6]
RP VARIANT CTRCT14 HIS-76.
RX PubMed=15286166; DOI=10.1136/jmg.2004.018333;
RA Burdon K.P., Wirth M.G., Mackey D.A., Russell-Eggitt I.M., Craig J.E.,
RA Elder J.E., Dickinson J.L., Sale M.M.;
RT "A novel mutation in the Connexin 46 gene causes autosomal dominant
RT congenital cataract with incomplete penetrance.";
RL J. Med. Genet. 41:E106-E106(2004).
RN [7]
RP VARIANT CTRCT14 LEU-59.
RX PubMed=15208569;
RA Bennett T.M., Mackay D.S., Knopf H.L.S., Shiels A.;
RT "A novel missense mutation in the gene for gap-junction protein alpha3
RT (GJA3) associated with autosomal dominant 'nuclear punctate' cataracts
RT linked to chromosome 13q.";
RL Mol. Vis. 10:376-382(2004).
RN [8]
RP VARIANT CTRCT14 THR-188.
RX PubMed=15448617;
RA Li Y., Wang J., Dong B., Man H.;
RT "A novel connexin46 (GJA3) mutation in autosomal dominant congenital
RT nuclear pulverulent cataract.";
RL Mol. Vis. 10:668-671(2004).
RN [9]
RP VARIANT CTRCT14 SER-45.
RX PubMed=16234473; DOI=10.1136/bjo.2005.075184;
RA Ma Z.W., Zheng J.Q., Li J., Li X.R., Tang X., Yuan X.Y., Zhang X.M.,
RA Sun H.M.;
RT "Two novel mutations of connexin genes in Chinese families with autosomal
RT dominant congenital nuclear cataract.";
RL Br. J. Ophthalmol. 89:1535-1537(2005).
RN [10]
RP ERRATUM OF PUBMED:16234473.
RA Ma Z.W., Zheng J.Q., Li J., Li X.R., Tang X., Yuan X.Y., Zhang X.M.,
RA Sun H.M.;
RL Br. J. Ophthalmol. 90:125-125(2006).
RN [11]
RP VARIANTS CTRCT14 MET-28 AND GLY-76.
RX PubMed=16254549;
RA Devi R.R., Reena C., Vijayalakshmi P.;
RT "Novel mutations in GJA3 associated with autosomal dominant congenital
RT cataract in the Indian population.";
RL Mol. Vis. 11:846-852(2005).
RN [12]
RP VARIANT CTRCT14 TYR-3.
RX PubMed=16885921;
RA Addison P.K., Berry V., Holden K.R., Espinal D., Rivera B., Su H.,
RA Srivastava A.K., Bhattacharya S.S.;
RT "A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant
RT zonular pulverulent cataract in a Hispanic family.";
RL Mol. Vis. 12:791-795(2006).
RN [13]
RP VARIANT CTRCT14 SER-11.
RX PubMed=16971895;
RA Hansen L., Yao W., Eiberg H., Funding M., Riise R., Kjaer K.W.,
RA Hejtmancik J.F., Rosenberg T.;
RT "The congenital 'ant-egg' cataract phenotype is caused by a missense
RT mutation in connexin46.";
RL Mol. Vis. 12:1033-1039(2006).
RN [14]
RP VARIANT CTRCT14 MET-87.
RX PubMed=17615540;
RA Guleria K., Vanita V., Singh D., Singh J.R.;
RT "A novel 'pearl box' cataract associated with a mutation in the connexin 46
RT (GJA3) gene.";
RL Mol. Vis. 13:797-803(2007).
RN [15]
RP VARIANT CTRCT14 LEU-33.
RX PubMed=17893674;
RA Guleria K., Sperling K., Singh D., Varon R., Singh J.R., Vanita V.;
RT "A novel mutation in the connexin 46 (GJA3) gene associated with autosomal
RT dominant congenital cataract in an Indian family.";
RL Mol. Vis. 13:1657-1665(2007).
RN [16]
RP VARIANTS CTRCT14 LEU-59 AND HIS-76.
RX PubMed=19182255; DOI=10.1167/iovs.08-3149;
RA Hansen L., Mikkelsen A., Nuernberg P., Nuernberg G., Anjum I., Eiberg H.,
RA Rosenberg T.;
RT "Comprehensive mutational screening in a cohort of Danish families with
RT hereditary congenital cataract.";
RL Invest. Ophthalmol. Vis. Sci. 50:3291-3303(2009).
RN [17]
RP VARIANT CTRCT14 MET-44.
RX PubMed=20431721;
RA Zhou Z., Hu S., Wang B., Zhou N., Zhou S., Ma X., Qi Y.;
RT "Mutation analysis of congenital cataract in a Chinese family identified a
RT novel missense mutation in the connexin 46 gene (GJA3).";
RL Mol. Vis. 16:713-719(2010).
RN [18]
RP VARIANT CTRCT14 ASP-2, AND CHARACTERIZATION OF VARIANT CTRCT14 ASP-2.
RX PubMed=21681855; DOI=10.1002/humu.21552;
RA Yao K., Wang W., Zhu Y., Jin C., Shentu X., Jiang J., Zhang Y., Ni S.;
RT "A novel GJA3 mutation associated with congenital nuclear pulverulent and
RT posterior polar cataract in a Chinese family.";
RL Hum. Mutat. 32:1367-1370(2011).
RN [19]
RP VARIANT CTRCT14 LEU-59.
RX PubMed=21866213;
RA Sun W., Xiao X., Li S., Guo X., Zhang Q.;
RT "Mutation analysis of 12 genes in Chinese families with congenital
RT cataracts.";
RL Mol. Vis. 17:2197-2206(2011).
RN [20]
RP VARIANT CTRCT14 ASN-47.
RX PubMed=21552498;
RA Yang G., Xing B., Liu G., Lu X., Jia X., Lu X., Wang X., Yu H., Fu Y.,
RA Zhao J.;
RT "A novel mutation in the GJA3 (connexin46) gene is associated with
RT autosomal dominant congenital nuclear cataract in a Chinese family.";
RL Mol. Vis. 17:1070-1073(2011).
RN [21]
RP VARIANT CTRCT14 SER-187.
RX PubMed=21647269;
RA Ding X., Wang B., Luo Y., Hu S., Zhou G., Zhou Z., Wang J., Ma X., Qi Y.;
RT "A novel mutation in the connexin 46 (GJA3) gene associated with congenital
RT cataract in a Chinese pedigree.";
RL Mol. Vis. 17:1343-1349(2011).
RN [22]
RP VARIANT CTRCT14 MET-44.
RX PubMed=21897748;
RA Bennett T.M., Shiels A.;
RT "A recurrent missense mutation in GJA3 associated with autosomal dominant
RT cataract linked to chromosome 13q.";
RL Mol. Vis. 17:2255-2262(2011).
RN [23]
RP VARIANT CTRCT14 ILE-188.
RX PubMed=22312188;
RA Zhang X., Wang L., Wang J., Dong B., Li Y.;
RT "Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a
RT Chinese family.";
RL Mol. Vis. 18:203-210(2012).
RN [24]
RP VARIANT CTRCT14 ASN-47.
RX PubMed=24772942;
RA Guo Y., Yuan L., Yi J., Xiao J., Xu H., Lv H., Xiong W., Zheng W., Guan L.,
RA Zhang J., Xiang H., Qi Y., Deng H.;
RT "Identification of a GJA3 mutation in a Chinese family with congenital
RT nuclear cataract using exome sequencing.";
RL Indian J. Biochem. Biophys. 50:253-258(2013).
RN [25]
RP VARIANT CTRCT14 GLY-48.
RX PubMed=26683566; DOI=10.1089/dna.2015.3125;
RA Li B., Liu Y., Liu Y., Guo H., Hu Z., Xia K., Jin X.;
RT "Identification of a GJA3 Mutation in a Large Family with Bilateral
RT Congenital Cataract.";
RL DNA Cell Biol. 35:135-139(2016).
RN [26]
RP VARIANTS CTRCT14 MET-19 AND GLN-156.
RX PubMed=28839118; DOI=10.1534/g3.117.300109;
RA Javadiyan S., Craig J.E., Souzeau E., Sharma S., Lower K.M., Mackey D.A.,
RA Staffieri S.E., Elder J.E., Taranath D., Straga T., Black J., Pater J.,
RA Casey T., Hewitt A.W., Burdon K.P.;
RT "High-Throughput Genetic Screening of 51 Pediatric Cataract Genes
RT Identifies Causative Mutations in Inherited Pediatric Cataract in South
RT Eastern Australia.";
RL G3 (Bethesda) 7:3257-3268(2017).
RN [27]
RP VARIANT CTRCT14 GLU-143.
RX PubMed=25635993; DOI=10.1097/opx.0000000000000518;
RA Yuan L., Guo Y., Yi J., Xiao J., Yuan J., Xiong W., Xu H., Yang Z.,
RA Zhang J., Deng H.;
RT "Identification of a novel GJA3 mutation in congenital nuclear cataract.";
RL Optom. Vis. Sci. 92:337-342(2015).
RN [28]
RP CHARACTERIZATION OF VARIANTS CTRCT14 GLY-76 AND HIS-76, FUNCTION,
RP SUBCELLULAR LOCATION, AND MUTAGENESIS OF ARG-76.
RX PubMed=30044662; DOI=10.1152/ajpcell.00157.2018;
RA Abrams C.K., Peinado A., Mahmoud R., Bocarsly M., Zhang H., Chang P.,
RA Botello-Smith W.M., Freidin M.M., Luo Y.;
RT "Alterations at Arg76 of human connexin 46, a residue associated with
RT cataract formation, cause loss of gap junction formation but preserve
RT hemichannel function.";
RL Am. J. Physiol. 5:C623-C635(2018).
CC -!- FUNCTION: Structural component of lens fiber gap junctions
CC (PubMed:30044662). Gap junctions are dodecameric channels that connect
CC the cytoplasm of adjoining cells (By similarity). They are formed by
CC the docking of two hexameric hemichannels, one from each cell membrane.
CC Small molecules and ions diffuse from one cell to a neighboring cell
CC via the central pore (PubMed:30044662). {ECO:0000250|UniProtKB:Q9TU17,
CC ECO:0000269|PubMed:30044662}.
CC -!- SUBUNIT: A hemichannel or connexon is composed of a hexamer of
CC connexins. A functional gap junction is formed by the apposition of two
CC hemichannels. Forms heteromeric channels with GJA8.
CC {ECO:0000250|UniProtKB:Q9TU17}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:30044662};
CC Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9TU17}. Cell
CC junction, gap junction {ECO:0000269|PubMed:30044662}.
CC -!- DISEASE: Cataract 14, multiple types (CTRCT14) [MIM:601885]: An
CC opacification of the crystalline lens of the eye that frequently
CC results in visual impairment or blindness. Opacities vary in
CC morphology, are often confined to a portion of the lens, and may be
CC static or progressive. CTRCT14 includes zonular pulverulent cataract,
CC among others. Zonular or lamellar cataracts are opacities, broad or
CC narrow, usually consisting of powdery white dots affecting only certain
CC layers or zones between the cortex and nucleus of an otherwise clear
CC lens. The opacity may be so dense as to render the entire central
CC region of the lens completely opaque, or so translucent that vision is
CC hardly if at all impeded. Usually sharply separated from a clear cortex
CC outside them, they may have projections from their outer edges known as
CC riders or spokes. {ECO:0000269|PubMed:10205266,
CC ECO:0000269|PubMed:10746562, ECO:0000269|PubMed:14627959,
CC ECO:0000269|PubMed:15208569, ECO:0000269|PubMed:15286166,
CC ECO:0000269|PubMed:15448617, ECO:0000269|PubMed:16234473,
CC ECO:0000269|PubMed:16254549, ECO:0000269|PubMed:16885921,
CC ECO:0000269|PubMed:16971895, ECO:0000269|PubMed:17615540,
CC ECO:0000269|PubMed:17893674, ECO:0000269|PubMed:19182255,
CC ECO:0000269|PubMed:20431721, ECO:0000269|PubMed:21552498,
CC ECO:0000269|PubMed:21647269, ECO:0000269|PubMed:21681855,
CC ECO:0000269|PubMed:21866213, ECO:0000269|PubMed:21897748,
CC ECO:0000269|PubMed:22312188, ECO:0000269|PubMed:24772942,
CC ECO:0000269|PubMed:25635993, ECO:0000269|PubMed:26683566,
CC ECO:0000269|PubMed:28839118, ECO:0000269|PubMed:30044662}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the connexin family. Alpha-type (group II)
CC subfamily. {ECO:0000305}.
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DR EMBL; AF075290; AAD42925.1; -; Genomic_DNA.
DR EMBL; AL138688; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC121137; AAI21138.1; -; mRNA.
DR CCDS; CCDS9289.1; -.
DR RefSeq; NP_068773.2; NM_021954.3.
DR RefSeq; XP_011533350.1; XM_011535048.2.
DR AlphaFoldDB; Q9Y6H8; -.
DR SMR; Q9Y6H8; -.
DR BioGRID; 108967; 18.
DR STRING; 9606.ENSP00000241125; -.
DR TCDB; 1.A.24.1.5; the gap junction-forming connexin (connexin) family.
DR iPTMnet; Q9Y6H8; -.
DR PhosphoSitePlus; Q9Y6H8; -.
DR SwissPalm; Q9Y6H8; -.
DR BioMuta; GJA3; -.
DR DMDM; 311033478; -.
DR MassIVE; Q9Y6H8; -.
DR PaxDb; Q9Y6H8; -.
DR PeptideAtlas; Q9Y6H8; -.
DR PRIDE; Q9Y6H8; -.
DR ProteomicsDB; 86687; -.
DR Antibodypedia; 22305; 217 antibodies from 31 providers.
DR DNASU; 2700; -.
DR Ensembl; ENST00000241125.4; ENSP00000241125.3; ENSG00000121743.4.
DR GeneID; 2700; -.
DR KEGG; hsa:2700; -.
DR MANE-Select; ENST00000241125.4; ENSP00000241125.3; NM_021954.4; NP_068773.2.
DR UCSC; uc001umx.2; human.
DR CTD; 2700; -.
DR DisGeNET; 2700; -.
DR GeneCards; GJA3; -.
DR HGNC; HGNC:4277; GJA3.
DR HPA; ENSG00000121743; Tissue enhanced (heart muscle, parathyroid gland, placenta).
DR MalaCards; GJA3; -.
DR MIM; 121015; gene.
DR MIM; 601885; phenotype.
DR neXtProt; NX_Q9Y6H8; -.
DR OpenTargets; ENSG00000121743; -.
DR Orphanet; 98991; Early-onset nuclear cataract.
DR Orphanet; 98993; Early-onset posterior polar cataract.
DR Orphanet; 98984; Pulverulent cataract.
DR VEuPathDB; HostDB:ENSG00000121743; -.
DR eggNOG; ENOG502QUKJ; Eukaryota.
DR GeneTree; ENSGT01050000244864; -.
DR HOGENOM; CLU_037388_0_0_1; -.
DR InParanoid; Q9Y6H8; -.
DR OMA; VEMHAPP; -.
DR OrthoDB; 969321at2759; -.
DR PhylomeDB; Q9Y6H8; -.
DR TreeFam; TF329606; -.
DR PathwayCommons; Q9Y6H8; -.
DR Reactome; R-HSA-190861; Gap junction assembly.
DR SignaLink; Q9Y6H8; -.
DR BioGRID-ORCS; 2700; 319 hits in 1067 CRISPR screens.
DR GeneWiki; GJA3; -.
DR GenomeRNAi; 2700; -.
DR Pharos; Q9Y6H8; Tbio.
DR PRO; PR:Q9Y6H8; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q9Y6H8; protein.
DR Bgee; ENSG00000121743; Expressed in left ventricle myocardium and 50 other tissues.
DR Genevisible; Q9Y6H8; HS.
DR GO; GO:0005922; C:connexin complex; IDA:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
DR GO; GO:0005243; F:gap junction channel activity; IBA:GO_Central.
DR GO; GO:0055077; F:gap junction hemi-channel activity; IDA:UniProtKB.
DR GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR GO; GO:1990349; P:gap junction-mediated intercellular transport; IDA:UniProtKB.
DR GO; GO:0007601; P:visual perception; IEA:InterPro.
DR Gene3D; 1.20.1440.80; -; 1.
DR InterPro; IPR000500; Connexin.
DR InterPro; IPR002262; Connexin46.
DR InterPro; IPR034634; Connexin_C.
DR InterPro; IPR019570; Connexin_CCC.
DR InterPro; IPR017990; Connexin_CS.
DR InterPro; IPR013092; Connexin_N.
DR InterPro; IPR038359; Connexin_N_sf.
DR PANTHER; PTHR11984; PTHR11984; 1.
DR PANTHER; PTHR11984:SF12; PTHR11984:SF12; 1.
DR Pfam; PF00029; Connexin; 1.
DR PRINTS; PR00206; CONNEXIN.
DR PRINTS; PR01133; CONNEXINA3.
DR SMART; SM00037; CNX; 1.
DR SMART; SM01089; Connexin_CCC; 1.
DR SUPFAM; SSF118220; SSF118220; 1.
DR PROSITE; PS00407; CONNEXINS_1; 1.
DR PROSITE; PS00408; CONNEXINS_2; 1.
PE 1: Evidence at protein level;
KW Cataract; Cell junction; Cell membrane; Disease variant; Disulfide bond;
KW Gap junction; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000250|UniProtKB:Q9TU17"
FT CHAIN 2..435
FT /note="Gap junction alpha-3 protein"
FT /id="PRO_0000057810"
FT INTRAMEM 2..15
FT /evidence="ECO:0000250|UniProtKB:Q9TU17"
FT TOPO_DOM 16..19
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 20..40
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:Q9TU17"
FT TOPO_DOM 41..71
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 72..92
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:Q9TU17"
FT TOPO_DOM 93..152
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 153..173
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:Q9TU17"
FT TOPO_DOM 174..201
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 202..222
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:Q9TU17"
FT TOPO_DOM 223..435
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT REGION 108..136
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 332..435
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT DISULFID 54..192
FT /evidence="ECO:0000250|UniProtKB:Q9TU17"
FT DISULFID 61..186
FT /evidence="ECO:0000250|UniProtKB:Q9TU17"
FT DISULFID 65..181
FT /evidence="ECO:0000250|UniProtKB:Q9TU17"
FT VARIANT 2
FT /note="G -> D (in CTRCT14; nuclear pulverulent and
FT posterior polar cataract; the mutant affects the formation
FT of gap junction plaques; affects hemichannel permeability;
FT dbSNP:rs397514703)"
FT /evidence="ECO:0000269|PubMed:21681855"
FT /id="VAR_066710"
FT VARIANT 3
FT /note="D -> Y (in CTRCT14)"
FT /evidence="ECO:0000269|PubMed:16885921"
FT /id="VAR_066711"
FT VARIANT 11
FT /note="L -> S (in CTRCT14; autosomal dominant congenital/
FT infantile 'ant-egg' cataract)"
FT /evidence="ECO:0000269|PubMed:16971895"
FT /id="VAR_030020"
FT VARIANT 19
FT /note="T -> M (in CTRCT14; unknown pathological
FT significance; dbSNP:rs1114167307)"
FT /evidence="ECO:0000269|PubMed:28839118"
FT /id="VAR_084808"
FT VARIANT 28
FT /note="V -> M (in CTRCT14; dbSNP:rs1555339539)"
FT /evidence="ECO:0000269|PubMed:16254549"
FT /id="VAR_066712"
FT VARIANT 32
FT /note="F -> L (in CTRCT14; nuclear pulverulent cataract)"
FT /evidence="ECO:0000269|PubMed:14627959"
FT /id="VAR_030021"
FT VARIANT 33
FT /note="R -> L (in CTRCT14)"
FT /evidence="ECO:0000269|PubMed:17893674"
FT /id="VAR_066713"
FT VARIANT 44
FT /note="V -> M (in CTRCT14; nuclear cataract;
FT dbSNP:rs981126461)"
FT /evidence="ECO:0000269|PubMed:20431721,
FT ECO:0000269|PubMed:21897748"
FT /id="VAR_066714"
FT VARIANT 45
FT /note="W -> S (in CTRCT14; nuclear progressive cataract)"
FT /evidence="ECO:0000269|PubMed:16234473"
FT /id="VAR_038796"
FT VARIANT 47
FT /note="D -> N (in CTRCT14; nuclear cataract)"
FT /evidence="ECO:0000269|PubMed:21552498,
FT ECO:0000269|PubMed:24772942"
FT /id="VAR_066715"
FT VARIANT 48
FT /note="E -> G (in CTRCT14)"
FT /evidence="ECO:0000269|PubMed:26683566"
FT /id="VAR_075211"
FT VARIANT 59
FT /note="P -> L (in CTRCT14; nuclear punctate cataract;
FT dbSNP:rs864309691)"
FT /evidence="ECO:0000269|PubMed:15208569,
FT ECO:0000269|PubMed:19182255, ECO:0000269|PubMed:21866213"
FT /id="VAR_030022"
FT VARIANT 63
FT /note="N -> S (in CTRCT14; dbSNP:rs121917823)"
FT /evidence="ECO:0000269|PubMed:10205266"
FT /id="VAR_009158"
FT VARIANT 76
FT /note="R -> G (in CTRCT14; nearly abolishes formation of
FT gap junctions; no significant effect on formation of
FT functional hemichannels)"
FT /evidence="ECO:0000269|PubMed:16254549,
FT ECO:0000269|PubMed:30044662"
FT /id="VAR_066716"
FT VARIANT 76
FT /note="R -> H (in CTRCT14; nearly abolishes formation of
FT gap junctions; no significant effect on formation of
FT functional hemichannels; not fully penetrant mutation;
FT dbSNP:rs121917827)"
FT /evidence="ECO:0000269|PubMed:15286166,
FT ECO:0000269|PubMed:19182255, ECO:0000269|PubMed:30044662"
FT /id="VAR_030023"
FT VARIANT 87
FT /note="T -> M (in CTRCT14; pearl box cataract;
FT dbSNP:rs864309687)"
FT /evidence="ECO:0000269|PubMed:17615540"
FT /id="VAR_066717"
FT VARIANT 143
FT /note="G -> E (in CTRCT14)"
FT /evidence="ECO:0000269|PubMed:25635993"
FT /id="VAR_072762"
FT VARIANT 156
FT /note="K -> Q (in CTRCT14; unknown pathological
FT significance; dbSNP:rs1114167308)"
FT /evidence="ECO:0000269|PubMed:28839118"
FT /id="VAR_084809"
FT VARIANT 187
FT /note="P -> L (in CTRCT14; dbSNP:rs121917825)"
FT /evidence="ECO:0000269|PubMed:10746562"
FT /id="VAR_023447"
FT VARIANT 187
FT /note="P -> S (in CTRCT14; central nuclear cataract with
FT punctate opacities)"
FT /evidence="ECO:0000269|PubMed:21647269"
FT /id="VAR_066718"
FT VARIANT 188
FT /note="N -> I (in CTRCT14; dbSNP:rs140332366)"
FT /evidence="ECO:0000269|PubMed:22312188,
FT ECO:0000269|PubMed:24772942"
FT /id="VAR_072763"
FT VARIANT 188
FT /note="N -> T (in CTRCT14; nuclear pulverulent cataract;
FT dbSNP:rs140332366)"
FT /evidence="ECO:0000269|PubMed:15448617"
FT /id="VAR_066719"
FT VARIANT 299
FT /note="L -> M (in dbSNP:rs968566)"
FT /evidence="ECO:0000269|PubMed:10205266,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_022426"
FT MUTAGEN 76
FT /note="R->E,K: Abolishes formation of gap junctions. No
FT significant effect on formation of functional
FT hemichannels."
FT /evidence="ECO:0000269|PubMed:30044662"
SQ SEQUENCE 435 AA; 47410 MW; 6DE161AE6476EB40 CRC64;
MGDWSFLGRL LENAQEHSTV IGKVWLTVLF IFRILVLGAA AEDVWGDEQS DFTCNTQQPG
CENVCYDRAF PISHIRFWAL QIIFVSTPTL IYLGHVLHIV RMEEKKKERE EEEQLKRESP
SPKEPPQDNP SSRDDRGRVR MAGALLRTYV FNIIFKTLFE VGFIAGQYFL YGFELKPLYR
CDRWPCPNTV DCFISRPTEK TIFIIFMLAV ACASLLLNML EIYHLGWKKL KQGVTSRLGP
DASEAPLGTA DPPPLPPSSR PPAVAIGFPP YYAHTAAPLG QARAVGYPGA PPPAADFKLL
ALTEARGKGQ SAKLYNGHHH LLMTEQNWAN QAAERQPPAL KAYPAASTPA APSPVGSSSP
PLAHEAEAGA APLLLDGSGS SLEGSALAGT PEEEEQAVTT AAQMHQPPLP LGDPGRASKA
SRASSGRARP EDLAI
