LOCUS       NM_000750               2596 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens cholinergic receptor nicotinic beta 4 subunit
            (CHRNB4), transcript variant 1, mRNA.
ACCESSION   NM_000750
VERSION     NM_000750.5
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 2596)
  AUTHORS   Yi,X., Li,W., Wang,Y., Chen,X., Ye,F., Sun,G. and Chen,J.
  TITLE     The relationship between CHRNA5/A3/B4 gene cluster polymorphisms
            and lung cancer risk: An updated meta-analysis and systematic
            review
  JOURNAL   Medicine (Baltimore) 100 (6), e24355 (2021)
   PUBMED   33578531
  REMARK    GeneRIF: The relationship between CHRNA5/A3/B4 gene cluster
            polymorphisms and lung cancer risk: An updated meta-analysis and
            systematic review.
REFERENCE   2  (bases 1 to 2596)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2596)
  AUTHORS   Lee,S.H., Ahn,W.Y., Seweryn,M. and Sadee,W.
  TITLE     Combined genetic influence of the nicotinic receptor gene cluster
            CHRNA5/A3/B4 on nicotine dependence
  JOURNAL   BMC Genomics 19 (1), 826 (2018)
   PUBMED   30453884
  REMARK    GeneRIF: Results indicate rs4887074 is associated with nicotinic
            receptor CHRNB4 expression, and along with two regulatory variants
            of nicotinic receptors CHRNA3 and CHRNA5, modulates the effect of
            rs16969968 on nicotine dependence risk.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2596)
  AUTHORS   Rosenberger,A., Hung,R.J., Christiani,D.C., Caporaso,N.E., Liu,G.,
            Bojesen,S.E., Le Marchand,L., Haiman,C.A., Albanes,D.,
            Aldrich,M.C., Tardon,A., Fernandez-Tardon,G., Rennert,G.,
            Field,J.K., Kiemeney,B., Lazarus,P., Haugen,A., Zienolddiny,S.,
            Lam,S., Schabath,M.B., Andrew,A.S., Brunnsstom,H., Goodman,G.E.,
            Doherty,J.A., Chen,C., Teare,M.D., Wichmann,H.E., Manz,J.,
            Risch,A., Muley,T.R., Johansson,M., Brennan,P., Landi,M.T.,
            Amos,C.I., Pesch,B., Johnen,G., Bruning,T., Bickeboller,H. and
            Gomolka,M.
  TITLE     Genetic modifiers of radon-induced lung cancer risk: a genome-wide
            interaction study in former uranium miners
  JOURNAL   Int Arch Occup Environ Health 91 (8), 937-950 (2018)
   PUBMED   29971594
  REMARK    GeneRIF: We discovered a genome-wide significant interaction of the
            marker rs12440014 within the gene CHRNB4. The well-established
            association of the genomic region 15q25 to lung cancer might be
            influenced by exposure to radon among uranium miners.
REFERENCE   5  (bases 1 to 2596)
  AUTHORS   Schaaf,C.P.
  TITLE     Nicotinic acetylcholine receptors in human genetic disease
  JOURNAL   Genet Med 16 (9), 649-656 (2014)
   PUBMED   24556925
  REMARK    Review article
REFERENCE   6  (bases 1 to 2596)
  AUTHORS   Hurst,R., Rollema,H. and Bertrand,D.
  TITLE     Nicotinic acetylcholine receptors: from basic science to
            therapeutics
  JOURNAL   Pharmacol Ther 137 (1), 22-54 (2013)
   PUBMED   22925690
  REMARK    Review article
REFERENCE   7  (bases 1 to 2596)
  AUTHORS   Groot Kormelink,P.J. and Luyten,W.H.
  TITLE     Cloning and sequence of full-length cDNAs encoding the human
            neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3
            and beta4 and expression of seven nAChR subunits in the human
            neuroblastoma cell line SH-SY5Y and/or IMR-32
  JOURNAL   FEBS Lett 400 (3), 309-314 (1997)
   PUBMED   9009220
REFERENCE   8  (bases 1 to 2596)
  AUTHORS   Tarroni,P., Rubboli,F., Chini,B., Zwart,R., Oortgiesen,M., Sher,E.
            and Clementi,F.
  TITLE     Neuronal-type nicotinic receptors in human neuroblastoma and
            small-cell lung carcinoma cell lines
  JOURNAL   FEBS Lett 312 (1), 66-70 (1992)
   PUBMED   1330682
REFERENCE   9  (bases 1 to 2596)
  AUTHORS   Anand,R. and Lindstrom,J.
  TITLE     Chromosomal localization of seven neuronal nicotinic acetylcholine
            receptor subunit genes in humans
  JOURNAL   Genomics 13 (4), 962-967 (1992)
   PUBMED   1505988
REFERENCE   10 (bases 1 to 2596)
  AUTHORS   Raimondi,E., Rubboli,F., Moralli,D., Chini,B., Fornasari,D.,
            Tarroni,P., De Carli,L. and Clementi,F.
  TITLE     Chromosomal localization and physical linkage of the genes encoding
            the human alpha 3, alpha 5, and beta 4 neuronal nicotinic receptor
            subunits
  JOURNAL   Genomics 12 (4), 849-850 (1992)
   PUBMED   1572664
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067863.19, CN366252.1,
            BX348201.1, BF311784.1, BC096081.1, HY213565.1, U62439.1,
            BY795907.2, U48861.1 and AI625439.1.
            
            On Nov 22, 2018 this sequence version replaced NM_000750.4.
            
            Summary: This gene is found within a conserved gene cluster and
            encodes one of the beta subunits of the nicotinic acetylcholine
            receptor (nAChRs) superfamily which form ligand-gated ion channels
            with a central pore that forms a cation channel. Neuronal nAChRs
            are pentameric structures that can be either homomeric or
            heteromeric, with heteromeric structures containing both alpha and
            beta subunits. Each subunit contains an extracellular amino
            terminus and four transmembrane domains. Nicotine is one of the
            agonists that binds to the receptor. Variants in this gene have
            been associated with nicotine dependence and lung cancer.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Sep 2017].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: SRR1803614.91133.1, U48861.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261751.8/ ENSP00000261751.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-63                AC067863.19        82336-82398         c
            64-615              CN366252.1         1-552
            616-844             BX348201.1         84-312
            845-1510            BF311784.1         2-667
            1511-1649           BC096081.1         570-708
            1650-1650           HY213565.1         35-35               c
            1651-1906           U62439.1           1660-1915
            1907-2299           BY795907.2         236-628
            2300-2413           U48861.1           2342-2455
            2414-2596           AI625439.1         14-196              c
FEATURES             Location/Qualifiers
     source          1..2596
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.1"
     gene            1..2596
                     /gene="CHRNB4"
                     /note="cholinergic receptor nicotinic beta 4 subunit"
                     /db_xref="GeneID:1143"
                     /db_xref="HGNC:HGNC:1964"
                     /db_xref="MIM:118509"
     exon            1..132
                     /gene="CHRNB4"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1574
                     /gene="CHRNB4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cholinergic receptor, nicotinic, beta
                     polypeptide 4; neuronal acetylcholine receptor subunit
                     beta-4; neuronal nicotinic receptor beta 4 subunit;
                     acetylcholine receptor, nicotinic, beta 4 (neuronal);
                     cholinergic receptor, nicotinic, beta 4 (neuronal)"
                     /codon_start=1
                     /product="neuronal acetylcholine receptor subunit beta-4
                     isoform 1 precursor"
                     /protein_id="NP_000741.1"
                     /db_xref="CCDS:CCDS10306.1"
                     /db_xref="GeneID:1143"
                     /db_xref="HGNC:HGNC:1964"
                     /db_xref="MIM:118509"
                     /translation="MRRAPSLVLFFLVALCGRGNCRVANAEEKLMDDLLNKTRYNNLI
                     RPATSSSQLISIKLQLSLAQLISVNEREQIMTTNVWLKQEWTDYRLTWNSSRYEGVNI
                     LRIPAKRIWLPDIVLYNNADGTYEVSVYTNLIVRSNGSVLWLPPAIYKSACKIEVKYF
                     PFDQQNCTLKFRSWTYDHTEIDMVLMTPTASMDDFTPSGEWDIVALPGRRTVNPQDPS
                     YVDVTYDFIIKRKPLFYTINLIIPCVLTTLLAILVFYLPSDCGEKMTLCISVLLALTF
                     FLLLISKIVPPTSLDVPLIGKYLMFTMVLVTFSIVTSVCVLNVHHRSPSTHTMAPWVK
                     RCFLHKLPTFLFMKRPGPDSSPARAFPPSKSCVTKPEATATSTSPSNFYGNSMYFVNP
                     ASAASKSPAGSTPVAIPRDFWLRSSGRFRQDVQEALEGVSFIAQHMKNDDEDQSVVED
                     WKYVAMVVDRLFLWVFMFVCVLGTVGLFLPPLFQTHAASEGPYAAQRD"
     exon            133..281
                     /gene="CHRNB4"
                     /inference="alignment:Splign:2.1.0"
     exon            282..326
                     /gene="CHRNB4"
                     /inference="alignment:Splign:2.1.0"
     exon            327..436
                     /gene="CHRNB4"
                     /inference="alignment:Splign:2.1.0"
     exon            437..1415
                     /gene="CHRNB4"
                     /inference="alignment:Splign:2.1.0"
     exon            1416..2596
                     /gene="CHRNB4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2576..2581
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNB4"
                     /note="hexamer: AATAAA"
     polyA_site      2596
                     /gene="CHRNB4"
                     /note="major polyA site"
ORIGIN      
        1 actcgaccgc gcggctcacg ggtgccctgt gaccccacag cggagctcgc ggcggctgcc
       61 acccggcccc gccggccatg aggcgcgcgc cttccctggt ccttttcttc ctggtcgccc
      121 tttgcgggcg cgggaactgc cgcgtggcca atgcggagga aaagctgatg gacgaccttc
      181 tgaacaaaac ccgttacaat aacctgatcc gcccagccac cagctcctca cagctcatct
      241 ccatcaagct gcagctctcc ctggcccagc ttatcagcgt gaatgagcga gagcagatca
      301 tgaccaccaa tgtctggctg aaacaggaat ggactgatta ccgcctgacc tggaacagct
      361 cccgctacga gggtgtgaac atcctgagga tccctgcaaa gcgcatctgg ttgcctgaca
      421 tcgtgcttta caacaacgcc gacgggacct atgaggtgtc tgtctacacc aacttgatag
      481 tccggtccaa cggcagcgtc ctgtggctgc cccctgccat ctacaagagc gcctgcaaga
      541 ttgaggtgaa gtactttccc ttcgaccagc agaactgcac cctcaagttc cgctcctgga
      601 cctatgacca cacggagata gacatggtcc tcatgacgcc cacagccagc atggatgact
      661 ttactcccag tggtgagtgg gacatagtgg ccctcccagg gagaaggaca gtgaacccac
      721 aagaccccag ctacgtggac gtgacttacg acttcatcat caagcgcaag cctctgttct
      781 acaccatcaa cctcatcatc ccctgcgtgc tcaccacctt gctggccatc ctcgtcttct
      841 acctgccatc cgactgcggc gagaagatga cactgtgcat ctcagtgctg ctggcactga
      901 cattcttcct gctgctcatc tccaagatcg tgccacccac ctccctcgat gtgcctctca
      961 tcggcaagta cctcatgttc accatggtgc tggtcacctt ctccatcgtc accagcgtct
     1021 gtgtgctcaa tgtgcaccac cgctcgccca gcacccacac catggcaccc tgggtcaagc
     1081 gctgcttcct gcacaagctg cctaccttcc tcttcatgaa gcgccctggc cccgacagca
     1141 gcccggccag agccttcccg cccagcaagt catgcgtgac caagcccgag gccaccgcca
     1201 cctccaccag cccctccaac ttctatggga actccatgta ctttgtgaac cccgcctctg
     1261 cagcttccaa gtctccagcc ggctctaccc cggtggctat ccccagggat ttctggctgc
     1321 ggtcctctgg gaggttccga caggatgtgc aggaggcatt agaaggtgtc agcttcatcg
     1381 cccagcacat gaagaatgac gatgaagacc agagtgtcgt tgaggactgg aagtacgtgg
     1441 ctatggtggt ggaccggctg ttcctgtggg tgttcatgtt tgtgtgcgtc ctgggcactg
     1501 tggggctctt cctaccgccc ctcttccaga cccatgcagc ttctgagggg ccctacgctg
     1561 cccagcgtga ctgagggccc cctgggttgt ggggtgagag gatgtgagtg gccgggtggg
     1621 cactttgctg cttctttctg ggttgtggct gatgaggccc taagtaaata tgtgagcatt
     1681 ggccatcaac cccatcaaac cagccacagc cgtggaacag gcaaggatgg gggcctgggc
     1741 tgtcctctct gaatgccttg gagggatccc aggaagcccc agtaggaggg agcttcagac
     1801 agttcaattc tggcctgtct tccttccctg caccgggcaa tggggataaa gatgacttcg
     1861 tagcagcacc tactatgctt caggcatggt gccggcctgc ctctccatca ccatctctct
     1921 ccacttcccc ttgtccagtt cctcacacac ttctagattc ttcccagctc agaggcttgg
     1981 catttgccat atcatcatct tttttttttt cttttaaacg gagtcttgct atatcgccca
     2041 ggctcaagtg attctcctgc ctcaacctcc caagtagctg ggattacaga aagccgccac
     2101 cgtgcccagc taatttttgt atttttgttg gccaggctga tttcgaactc ctgacctcaa
     2161 atgacccacc tgcctcggcc tcccaaagtg ctaggattac aagtgtgagc cactatgcct
     2221 ggccttccct atcttctacc tgaaccttct tcctcttccc ccagggcttc ccaagctctt
     2281 tccacagcca catcagtcag ggcatggctc caatccattc tttgctccaa tgtcacctcc
     2341 tctgagaggc cttccctaac cacccaatca ttctaaagca gcctccctac agtcacgtta
     2401 ccctgcctcc ttcctcgagc actcctgtgt acctgtcgct cttatctggt ggcatgtatg
     2461 tcatccacag ctcacccact agagtgtgag ctccatgaga acagggacct gctccttcac
     2521 attcgtggta gtatccccag ggcctaggac agagcttggc acacagtagg tgctcaataa
     2581 atgtttgttg aatgaa
//
