LOCUS       NM_198568               2279 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens gap junction protein beta 7 (GJB7), mRNA.
ACCESSION   NM_198568 XM_005248717 XM_351666
VERSION     NM_198568.3
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 2279)
  AUTHORS   Sinyuk,M., Alvarado,A.G., Nesmiyanov,P., Shaw,J.,
            Mulkearns-Hubert,E.E., Eurich,J.T., Hale,J.S., Bogdanova,A.,
            Hitomi,M., Maciejewski,J., Huang,A.Y., Saunthararajah,Y. and
            Lathia,J.D.
  TITLE     Cx25 contributes to leukemia cell communication and
            chemosensitivity
  JOURNAL   Oncotarget 6 (31), 31508-31521 (2015)
   PUBMED   26375552
  REMARK    GeneRIF: High CX25 expression is associated with leukemia.
REFERENCE   2  (bases 1 to 2279)
  AUTHORS   Deng,X., Sabino,E.C., Cunha-Neto,E., Ribeiro,A.L., Ianni,B.,
            Mady,C., Busch,M.P. and Seielstad,M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2279)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   4  (bases 1 to 2279)
  AUTHORS   Sohl,G., Nielsen,P.A., Eiberger,J. and Willecke,K.
  TITLE     Expression profiles of the novel human connexin genes hCx30.2,
            hCx40.1, and hCx62 differ from their putative mouse orthologues
  JOURNAL   Cell Commun Adhes 10 (1), 27-36 (2003)
   PUBMED   12881038
REFERENCE   5  (bases 1 to 2279)
  AUTHORS   Willecke,K., Eiberger,J., Degen,J., Eckardt,D., Romualdi,A.,
            Guldenagel,M., Deutsch,U. and Sohl,G.
  TITLE     Structural and functional diversity of connexin genes in the mouse
            and human genome
  JOURNAL   Biol Chem 383 (5), 725-737 (2002)
   PUBMED   12108537
  REMARK    Review article
REFERENCE   6  (bases 1 to 2279)
  AUTHORS   Bondarev,I., Vine,A. and Bertram,J.S.
  TITLE     Cloning and functional expression of a novel human connexin-25 gene
  JOURNAL   Cell Commun Adhes 8 (4-6), 167-171 (2001)
   PUBMED   12064583
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC057813.1, AK127554.1 and BM976147.1.
            
            On May 17, 2019 this sequence version replaced NM_198568.2.
            
            Summary: Connexins, such as GJB7, are involved in the formation of
            gap junctions, intercellular conduits that directly connect the
            cytoplasms of contacting cells. Each gap junction channel is formed
            by docking of 2 hemichannels, each of which contains 6 connexin
            subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM,
            Mar 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC057813.1, DRR138506.61086.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000525899.6/ ENSP00000435355.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1406              BC057813.1         1-1406
            1407-2275           AK127554.1         1232-2100
            2276-2279           BM976147.1         20-23               c
FEATURES             Location/Qualifiers
     source          1..2279
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3-q15"
     gene            1..2279
                     /gene="GJB7"
                     /gene_synonym="bA136M9.1; connexin25; CX25"
                     /note="gap junction protein beta 7"
                     /db_xref="GeneID:375519"
                     /db_xref="HGNC:HGNC:16690"
                     /db_xref="MIM:611921"
     exon            1..141
                     /gene="GJB7"
                     /gene_synonym="bA136M9.1; connexin25; CX25"
                     /inference="alignment:Splign:2.1.0"
     exon            142..319
                     /gene="GJB7"
                     /gene_synonym="bA136M9.1; connexin25; CX25"
                     /inference="alignment:Splign:2.1.0"
     exon            320..2279
                     /gene="GJB7"
                     /gene_synonym="bA136M9.1; connexin25; CX25"
                     /inference="alignment:Splign:2.1.0"
     CDS             347..1018
                     /gene="GJB7"
                     /gene_synonym="bA136M9.1; connexin25; CX25"
                     /note="connexin-25; gap junction protein, beta 7, 25kDa"
                     /codon_start=1
                     /product="gap junction beta-7 protein"
                     /protein_id="NP_940970.1"
                     /db_xref="CCDS:CCDS5008.1"
                     /db_xref="GeneID:375519"
                     /db_xref="HGNC:HGNC:16690"
                     /db_xref="MIM:611921"
                     /translation="MSWMFLRDLLSGVNKYSTGTGWIWLAVVFVFRLLVYMVAAEHVW
                     KDEQKEFECNSRQPGCKNVCFDDFFPISQVRLWALQLIMVSTPSLLVVLHVAYHEGRE
                     KRHRKKLYVSPGTMDGGLWYAYLISLIVKTGFEIGFLVLFYKLYDGFSVPYLIKCDLK
                     PCPNTVDCFISKPTEKTIFILFLVITSCLCIVLNFIELSFLVLKCFIKCCLQKYLKKP
                     QVLSV"
     regulatory      2260..2265
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJB7"
                     /gene_synonym="bA136M9.1; connexin25; CX25"
                     /note="hexamer: AATAAG"
     polyA_site      2279
                     /gene="GJB7"
                     /gene_synonym="bA136M9.1; connexin25; CX25"
                     /note="major polyA site"
ORIGIN      
        1 ggggaggagc caagatggct gaataggaac agctccggtc tacagctccc agagtgagca
       61 acgcagaaga tgggtgattt ctgcatttcc agtcgaggta ccgggttcat ctcactaggg
      121 agtgccagac actgggcgca gggctgaaaa agcacgagtg tccgcactat gacaaaagaa
      181 aagcggcgtc tcctcaaaac accaccatgt tcccctatga gtctggtgag ccaagacact
      241 aagaaactgc aggaaacgag agagttctcg gggtgggggt gtccatggat gaagcaccga
      301 acaaactgga gcccgcaaga gtcttgcctt cttttgagcc taagtcatga gttggatgtt
      361 cctcagagat ctcctgagtg gagtaaataa atactccact gggactggat ggatttggct
      421 ggctgtcgtg tttgtcttcc gtttgctggt ctacatggtg gcagcagagc acgtgtggaa
      481 agatgagcag aaagagtttg agtgcaacag tagacagccc ggttgcaaaa atgtgtgttt
      541 tgatgacttc ttccccattt cccaagtcag actttgggcc ttacaactga taatggtctc
      601 cacaccttca cttctggtgg ttttacatgt agcctatcat gagggtagag agaaaaggca
      661 cagaaagaaa ctctatgtca gcccaggtac aatggatggg ggcctatggt acgcttatct
      721 tatcagcctc attgttaaaa ctggttttga aattggcttc cttgttttat tttataagct
      781 atatgatggc tttagtgttc cctaccttat aaagtgtgat ttgaagcctt gtcccaacac
      841 tgtggactgc ttcatctcca aacccactga gaagacgatc ttcatcctct tcttggtcat
      901 cacctcatgc ttgtgtattg tgttgaattt cattgaactg agttttttgg ttctcaagtg
      961 ctttattaag tgctgtctcc aaaaatattt aaaaaaacct caagtcctca gtgtgtgagt
     1021 gccacagcct cagatatgtt gaatgtggta ggagagggac ccctccccta ctccagaatc
     1081 ttcacacttg gccataaaca cactccctct acctgaagca aagctactct gtgacacaca
     1141 agagggttaa acaaagaaaa cctgcatccc tcctcagcaa ggcctaagct gagttggaag
     1201 acaaagcaca tcagccttag tatcatttgg gaggaatttt tttacattgt caatatgctt
     1261 tcagttatga gctctagaca gaggtctcat tgttttgttg tagggttctc cagtatgtgg
     1321 ataacattag ttgttttaga ataggtaatt gcaaattagt ctgaagaaat ctaacaggat
     1381 tcttttaaga gcttagattt ttcagggaaa aaaaaaaaaa aagaaaccct gtgtcagttt
     1441 tctgtttttt ctaactatct cattacaatt ggtgcacaat gaactggaaa atataaaaag
     1501 tgacacttta ggcaaatgtg atggcctccg agctgaaatg aaggaactgg caatctttcc
     1561 aaagtggcag ccaaggcccc actccctgtc ctactcaatc tctgcaggga aaaactgtgg
     1621 gataggatag cagccagctg gggacacaca gaggaacatt caacaggaag gtcccgccta
     1681 gggaaaaggc cacagagccc aggcctcttg ccgattcagg gatccttgga tataagtgga
     1741 ttagaggaga gggaggaaag ctatcatttc agtggtctcc aaatcaagta gaaatattac
     1801 tgggaggtat cccacttaag cctgaaccag cagacatccg aaagggtcac tctagagtca
     1861 gaaaggaaag caggtccccc agaaggcaac acattgatag gaagtggagg ccacagaaaa
     1921 agaatgtgcc cacttgataa ttacttaaga cttctattta accaaaagaa cattgaaata
     1981 ctttgtaaat attcatattg ttgaaccttt cataatcagg aattcactat gtactatact
     2041 gtaagtcata gttcgcctat aatttactag tatatctccc tctaggacag atagtaaaat
     2101 gtgtactatg ttgttacagt ggtgcaaaaa tgttttaaaa gtttatcact tgttttgaag
     2161 actagaactt tctttacttt tctatatttt cttagcaatt cacagatatg ttctctttgg
     2221 atttagtact ttaacatatg tacatttctt cagaataaaa ataagggtat ttcacaatg
//
