LOCUS       NM_005267               1392 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens gap junction protein alpha 8 (GJA8), mRNA.
ACCESSION   NM_005267
VERSION     NM_005267.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1392)
  AUTHORS   Dong,S., Zou,T., Zhen,F., Wang,T., Zhou,Y., Wu,J., Nagata,T.,
            Matsushita,I., Gong,B., Kondo,H., Li,Q. and Zhang,H.
  TITLE     Association of variants in GJA8 with familial
            acorea-microphthalmia-cataract syndrome
  JOURNAL   Eur J Hum Genet 32 (4), 413-420 (2024)
   PUBMED   38052906
  REMARK    GeneRIF: Association of variants in GJA8 with familial
            acorea-microphthalmia-cataract syndrome.
REFERENCE   2  (bases 1 to 1392)
  AUTHORS   Wong,R.S., Chen,H., Li,Y.X., Esseltine,J.L., Stathopulos,P.B. and
            Bai,D.
  TITLE     Human Cx50 Isoleucine177 prevents heterotypic docking and formation
            of functional gap junction channels with Cx43
  JOURNAL   Am J Physiol Cell Physiol 326 (2), C414-C428 (2024)
   PUBMED   38145302
  REMARK    GeneRIF: Human Cx50 Isoleucine177 prevents heterotypic docking and
            formation of functional gap junction channels with Cx43.
REFERENCE   3  (bases 1 to 1392)
  AUTHORS   Lin,Y., Chen,X., Liang,C., Li,D., Liu,L. and Li,X.
  TITLE     Novel compound heterozygous variant of GJA8 gene in two siblings
            with congenital cataract mimics an autosomal recessive trait
  JOURNAL   Eur J Ophthalmol 33 (5), NP1-NP4 (2023)
   PUBMED   36262071
  REMARK    GeneRIF: Novel compound heterozygous variant of GJA8 gene in two
            siblings with congenital cataract mimics an autosomal recessive
            trait.
REFERENCE   4  (bases 1 to 1392)
  AUTHORS   Dunia,I., Recouvreur,M., Nicolas,P., Kumar,N., Bloemendal,H. and
            Benedetti,E.L.
  TITLE     Assembly of connexins and MP26 in lens fiber plasma membranes
            studied by SDS-fracture immunolabeling
  JOURNAL   J Cell Sci 111 (Pt 15), 2109-2120 (1998)
   PUBMED   9664032
REFERENCE   5  (bases 1 to 1392)
  AUTHORS   Shiels,A., Mackay,D., Ionides,A., Berry,V., Moore,A. and
            Bhattacharya,S.
  TITLE     A missense mutation in the human connexin50 gene (GJA8) underlies
            autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q
  JOURNAL   Am J Hum Genet 62 (3), 526-532 (1998)
   PUBMED   9497259
REFERENCE   6  (bases 1 to 1392)
  AUTHORS   Geyer,D.D., Church,R.L., Steele,E.C. Jr., Heinzmann,C., Kojis,T.L.,
            Klisak,I., Sparkes,R.S. and Bateman,J.B.
  TITLE     Regional mapping of the human MP70 (Cx50; connexin 50) gene by
            fluorescence in situ hybridization to 1q21.1
  JOURNAL   Mol Vis 3, 13 (1997)
   PUBMED   9479004
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1392)
  AUTHORS   Church,R.L., Wang,J.H. and Steele,E.
  TITLE     The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal
            analysis and chromosome mapping
  JOURNAL   Curr Eye Res 14 (10), 979-981 (1995)
   PUBMED   8549164
  REMARK    Correction to:[Curr Eye Res. 1995 Mar;14(3):215-21. doi:
            10.3109/02713689509033517.. PMID: 7796604]
REFERENCE   8  (bases 1 to 1392)
  AUTHORS   Church,R.L., Wang,J.H. and Steele,E.
  TITLE     The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal
            analysis and chromosome mapping
  JOURNAL   Curr Eye Res 14 (3), 215-221 (1995)
   PUBMED   7796604
  REMARK    Erratum:[Curr Eye Res. 1995 Oct;14(10):979-81. doi:
            10.3109/02713689508995138.. PMID: 8549164]
REFERENCE   9  (bases 1 to 1392)
  AUTHORS   Guo,R. and Haldeman-Englert,C.R.
  TITLE     1q21.1 Recurrent Deletion
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21348049
REFERENCE   10 (bases 1 to 1392)
  AUTHORS   Jarvis,L.J. and Louis,C.F.
  TITLE     The permeability of reconstituted liposomes containing the purified
            lens fiber cell integral membrane proteins MP20, MP26 and MP70
  JOURNAL   J Membr Biol 130 (3), 251-263 (1992)
   PUBMED   1491428
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC239801.3, CD674975.1,
            DB476698.1 and BQ184886.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_005267.4.
            
            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 have been associated with zonular pulverulent cataracts,
            nuclear progressive cataracts, and cataract-microcornea syndrome.
            [provided by RefSeq, Dec 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CD674975.1, SRR14372080.1911102.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369235.2/ ENSP00000358238.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                AC239801.3         108604-108628
            26-550              CD674975.1         1-525
            551-805             DB476698.1         163-417
            806-806             AC239801.3         114492-114492
            807-888             DB476698.1         419-500
            889-1392            BQ184886.1         16-519              c
FEATURES             Location/Qualifiers
     source          1..1392
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..1392
                     /gene="GJA8"
                     /gene_synonym="CAE; CAE1; CTRCT1; CX50; CZP1; MP70"
                     /note="gap junction protein alpha 8"
                     /db_xref="GeneID:2703"
                     /db_xref="HGNC:HGNC:4281"
                     /db_xref="MIM:600897"
     exon            1..67
                     /gene="GJA8"
                     /gene_synonym="CAE; CAE1; CTRCT1; CX50; CZP1; MP70"
                     /inference="alignment:Splign:2.1.0"
     exon            68..1392
                     /gene="GJA8"
                     /gene_synonym="CAE; CAE1; CTRCT1; CX50; CZP1; MP70"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..1380
                     /gene="GJA8"
                     /gene_synonym="CAE; CAE1; CTRCT1; CX50; CZP1; MP70"
                     /note="connexin 50; gap junction membrane channel protein
                     alpha-8; lens intrinsic membrane protein MP70; lens fiber
                     protein MP70; cell surface glycoprotein; gap junction
                     protein alpha 8 50kDa; gap junction alpha 8"
                     /codon_start=1
                     /product="gap junction alpha-8 protein"
                     /protein_id="NP_005258.2"
                     /db_xref="CCDS:CCDS30834.1"
                     /db_xref="GeneID:2703"
                     /db_xref="HGNC:HGNC:4281"
                     /db_xref="MIM:600897"
                     /translation="MGDWSFLGNILEEVNEHSTVIGRVWLTVLFIFRILILGTAAEFV
                     WGDEQSDFVCNTQQPGCENVCYDEAFPISHIRLWVLQIIFVSTPSLMYVGHAVHYVRM
                     EEKRKSREAEELGQQAGTNGGPDQGSVKKSSGSKGTKKFRLEGTLLRTYICHIIFKTL
                     FEVGFIVGHYFLYGFRILPLYRCSRWPCPNVVDCFVSRPTEKTIFILFMLSVASVSLF
                     LNVMELGHLGLKGIRSALKRPVEQPLGEIPEKSLHSIAVSSIQKAKGYQLLEEEKIVS
                     HYFPLTEVGMVETSPLPAKPFNQFEEKISTGPLGDLSRGYQETLPSYAQVGAQEVEGE
                     GPPAEEGAEPEVGEKKEEAERLTTEEQEKVAVPEGEKVETPGVDKEGEKEEPQSEKVS
                     KQGLPAEKTPSLCPELTTDDARPLSRLSKASSRARSDDLTV"
ORIGIN      
        1 gccattttgc tgctgagcgc caagagagaa agagcacata tttctccgtg ggacactcct
       61 tgtattggtg ggtgagaaat gggcgactgg agtttcctgg ggaacatctt ggaggaggtg
      121 aatgagcact ccaccgtcat cggcagagtc tggctcaccg tgcttttcat cttccggatc
      181 ctcatccttg gcacggccgc agagttcgtg tggggggatg agcaatccga cttcgtgtgc
      241 aacacccagc agcctggctg cgagaacgtc tgctacgacg aggcctttcc catctcccac
      301 attcgcctct gggtgctgca gatcatcttc gtctccaccc cgtccctgat gtacgtgggg
      361 cacgcggtgc actacgtccg catggaggag aagcgcaaaa gccgcgaggc ggaggagctg
      421 ggccagcagg cggggactaa cggcggcccg gaccagggca gcgtcaagaa gagcagcggc
      481 agcaaaggca ctaagaagtt ccggctggag gggaccctgc tgaggaccta catctgccac
      541 atcatcttca agaccctctt tgaagtgggc ttcatcgtgg gccactactt cctgtacggg
      601 ttccggatcc tgcctctgta ccgctgcagc cggtggccct gccccaatgt ggtggactgc
      661 ttcgtgtccc ggcccacgga gaaaaccatc ttcatcctgt tcatgttgtc tgtggcctct
      721 gtgtccctat tcctcaacgt gatggagttg ggccacctgg gcctgaaggg gatccggtct
      781 gccttgaaga ggcctgtaga gcagcccctg ggggagattc ctgagaaatc cctccactcc
      841 attgctgtct cctccatcca gaaagccaag ggctatcagc tcctagaaga agagaaaatc
      901 gtttcccact atttcccctt gaccgaggtt gggatggtgg agaccagccc actgcctgcc
      961 aagcctttca atcagttcga ggagaagatc agcacaggac ccctggggga cttgtcccgg
     1021 ggctaccaag agacactgcc ttcctacgct caggtggggg cacaagaagt ggagggcgag
     1081 gggccgcctg cagaggaggg agccgaaccc gaggtgggag agaagaagga ggaagcagag
     1141 aggctgacca cggaggagca ggagaaggtg gccgtgccag agggggagaa agtagagacc
     1201 cccggagtgg ataaggaggg tgaaaaagaa gagccgcagt cggagaaggt gtcaaagcaa
     1261 gggctgccag ctgagaagac accttcactc tgtccagagc tgacaacaga tgatgccaga
     1321 cccctgagca ggctaagcaa agccagcagc cgagccaggt cagacgatct aaccgtatga
     1381 agtgacgcca aa
//
