LOCUS       NM_005199               4009 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cholinergic receptor nicotinic gamma subunit (CHRNG),
            mRNA.
ACCESSION   NM_005199
VERSION     NM_005199.5
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 4009)
  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   2  (bases 1 to 4009)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4009)
  AUTHORS   Carrera-Garcia,L., Natera-de Benito,D., Dieterich,K., de la
            Banda,M.G.G., Felter,A., Inarejos,E., Codina,A., Jou,C., Roldan,M.,
            Palau,F., Hoenicka,J., Pijuan,J., Ortez,C., Exposito-Escudero,J.,
            Durand,C., Nugues,F., Jimenez-Mallebrera,C., Colomer,J.,
            Carlier,R.Y., Lochmuller,H., Quijano-Roy,S. and Nascimento,A.
  TITLE     CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging
            pattern and clinical, histopathological, and molecular genetic
            findings
  JOURNAL   Am J Med Genet A 179 (6), 915-926 (2019)
   PUBMED   30868735
  REMARK    GeneRIF: Our study contributes to further define the phenotypic
            spectrum of CHRNG-related nonlethal MPS, including muscle imaging
            features, which may be useful in distinguishing it from other
            diffuse arthrogryposis entities.
            Review article
REFERENCE   4  (bases 1 to 4009)
  AUTHORS   Sher,G. and Naeem,M.
  TITLE     Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in
            a Consanguineous Pakistani Family
  JOURNAL   Genet Test Mol Biomarkers 22 (12), 714-718 (2018)
   PUBMED   30461311
  REMARK    GeneRIF: A homozygous nonsense CHRNG variant c.136C>T (p.R46*),
            predicted to produce a truncated protein that leads to
            acetylcholine receptor deficiency was detected in a consanguineous
            Pakistani family with Escobar syndrome.
REFERENCE   5  (bases 1 to 4009)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 4009)
  AUTHORS   Kreienkamp,H.J., Maeda,R.K., Sine,S.M. and Taylor,P.
  TITLE     Intersubunit contacts governing assembly of the mammalian nicotinic
            acetylcholine receptor
  JOURNAL   Neuron 14 (3), 635-644 (1995)
   PUBMED   7695910
REFERENCE   7  (bases 1 to 4009)
  AUTHORS   Beeson,D., Brydson,M., Betty,M., Jeremiah,S., Povey,S., Vincent,A.
            and Newsom-Davis,J.
  TITLE     Primary structure of the human muscle acetylcholine receptor. cDNA
            cloning of the gamma and epsilon subunits
  JOURNAL   Eur J Biochem 215 (2), 229-238 (1993)
   PUBMED   7688301
REFERENCE   8  (bases 1 to 4009)
  AUTHORS   Schurr,E., Skamene,E., Morgan,K., Chu,M.L. and Gros,P.
  TITLE     Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1
            identifies conserved linkage of structural protein genes between
            murine chromosome 1 and human chromosome 2q
  JOURNAL   Genomics 8 (3), 477-486 (1990)
   PUBMED   1981051
REFERENCE   9  (bases 1 to 4009)
  AUTHORS   Cohen-Haguenauer,O., Barton,P.J., Buonanno,A., Cong,N.V.,
            Masset,M., de Tand,M.F., Merlie,J. and Frezal,J.
  TITLE     Localization of the acetylcholine receptor gamma subunit gene to
            human chromosome 2q32----qter
  JOURNAL   Cytogenet Cell Genet 52 (3-4), 124-127 (1989)
   PUBMED   2630182
REFERENCE   10 (bases 1 to 4009)
  AUTHORS   Shibahara,S., Kubo,T., Perski,H.J., Takahashi,H., Noda,M. and
            Numa,S.
  TITLE     Cloning and sequence analysis of human genomic DNA encoding gamma
            subunit precursor of muscle acetylcholine receptor
  JOURNAL   Eur J Biochem 146 (1), 15-22 (1985)
   PUBMED   3967651
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092165.4 and AK125362.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 3, 2018 this sequence version replaced NM_005199.4.
            
            Summary: The mammalian muscle-type acetylcholine receptor is a
            transmembrane pentameric glycoprotein with two alpha subunits, one
            beta, one delta, and one epsilon (in adult skeletal muscle) or
            gamma (in fetal and denervated muscle) subunit. This gene, which
            encodes the gamma subunit, is expressed prior to the thirty-third
            week of gestation in humans. The gamma subunit of the acetylcholine
            receptor plays a role in neuromuscular organogenesis and ligand
            binding and disruption of gamma subunit expression prevents the
            correct localization of the receptor in cell membranes. Mutations
            in this gene cause Escobar syndrome and a lethal form of multiple
            pterygium syndrome. Muscle-type acetylcholine receptor is the major
            antigen in the autoimmune disease myasthenia gravis.[provided by
            RefSeq, Sep 2009].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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##
            RNAseq introns :: single sample supports all introns SAMEA2162946
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000651502.1/ ENSP00000498757.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                AC092165.4         68759-68793
            36-2222             AK125362.1         1-2187
            2223-4009           AC092165.4         75396-77182
FEATURES             Location/Qualifiers
     source          1..4009
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..4009
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /note="cholinergic receptor nicotinic gamma subunit"
                     /db_xref="GeneID:1146"
                     /db_xref="HGNC:HGNC:1967"
                     /db_xref="MIM:100730"
     exon            1..111
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..1610
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /note="cholinergic receptor, nicotinic, gamma polypeptide;
                     acetylcholine receptor subunit gamma; acetylcholine
                     receptor, muscle, gamma subunit; acetylcholine receptor,
                     nicotinic, gamma (muscle); cholinergic receptor,
                     nicotinic, gamma (muscle); cholinergic receptor, nicotinic
                     gamma"
                     /codon_start=1
                     /product="acetylcholine receptor subunit gamma precursor"
                     /protein_id="NP_005190.4"
                     /db_xref="CCDS:CCDS33400.1"
                     /db_xref="GeneID:1146"
                     /db_xref="HGNC:HGNC:1967"
                     /db_xref="MIM:100730"
                     /translation="MHGGQGPLLLLLLLAVCLGAQGRNQEERLLADLMQNYDPNLRPA
                     ERDSDVVNVSLKLTLTNLISLNEREEALTTNVWIEMQWCDYRLRWDPRDYEGLWVLRV
                     PSTMVWRPDIVLENNVDGVFEVALYCNVLVSPDGCIYWLPPAIFRSACSISVTYFPFD
                     WQNCSLIFQSQTYSTNEIDLQLSQEDGQTIEWIFIDPEAFTENGEWAIQHRPAKMLLD
                     PAAPAQEAGHQKVVFYLLIQRKPLFYVINIIAPCVLISSVAILIHFLPAKAGGQKCTV
                     AINVLLAQTVFLFLVAKKVPETSQAVPLISKYLTFLLVVTILIVVNAVVVLNVSLRSP
                     HTHSMARGVRKVFLRLLPQLLRMHVRPLAPAAVQDTQSRLQNGSSGWSITTGEEVALC
                     LPRSELLFQQWQRQGLVAAALEKLEKGPELGLSQFCGSLKQAAPAIQACVEACNLIAC
                     ARHQQSHFDNGNEEWFLVGRVLDRVCFLAMLSLFICGTAGIFLMAHYNRVPALPFPGD
                     PRPYLPSPD"
     exon            112..251
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     exon            252..296
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     exon            297..406
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     exon            407..562
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     exon            563..660
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     exon            661..861
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     exon            862..976
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1091
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1305
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     exon            1306..1436
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     exon            1437..4009
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3713..3718
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /note="hexamer: AATAAA"
     polyA_site      3737
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
     regulatory      3942..3947
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /note="hexamer: AATAAA"
     polyA_site      3965
                     /gene="CHRNG"
                     /gene_synonym="ACHRG"
                     /note="major polyA site"
ORIGIN      
        1 gccccagacc ttggagctgt tgtcccaccc ctgtcactgc agagagctga ggcaccatgc
       61 atgggggcca ggggccgctg ctcctcctgc tgctgctggc tgtctgcctg ggggcccagg
      121 gccggaacca ggaggagcgc ctgctcgcag acctgatgca aaactacgac cccaacctgc
      181 ggcccgcgga acgagactcg gatgtggtca atgtcagcct gaagctaacc ctcaccaacc
      241 tcatctccct gaacgagcga gaggaagccc tcaccaccaa tgtctggata gagatgcagt
      301 ggtgcgacta tcgcctgcgc tgggatccgc gagactacga aggcctgtgg gtgctgaggg
      361 tgccgtccac catggtgtgg cggccggata tcgtgctgga gaacaacgtg gacggtgtct
      421 tcgaggtggc cctctactgc aatgtgctcg tgtcccctga cggctgtatc tactggctgc
      481 cgcctgccat cttccgttcc gcctgctcta tctcagtcac ctacttcccc ttcgactggc
      541 agaactgctc ccttatcttc cagtcccaga cttacagcac caatgagatt gatctgcagc
      601 tgagtcagga agatggccag accatcgagt ggattttcat tgaccctgag gccttcacag
      661 agaatgggga gtgggccatc cagcaccgac cagccaagat gctcctggac ccagcggcgc
      721 cagcccagga agcaggccac cagaaggtgg tgttctacct gctcatccag cgcaagcccc
      781 tcttctacgt catcaacatc atcgccccct gtgtgctcat ctcctctgtc gccatcctca
      841 tccacttcct tcctgccaag gctgggggcc agaagtgtac cgtcgccatc aacgtgctcc
      901 tggcccagac tgtcttcctc ttccttgtgg ccaagaaggt gcctgaaacc tcccaggcgg
      961 tgccactcat cagcaagtac ctgaccttcc tcctggtggt gaccatcctc attgtcgtga
     1021 atgctgtggt tgtgctcaat gtctccttgc ggtctccaca cacacactcc atggcccgag
     1081 gggtccgcaa ggtgttcctg aggctcttgc cccagctgct gaggatgcac gttcgcccgc
     1141 tggccccggc agctgtgcag gacacccagt cccggctaca gaatggctcc tcgggatggt
     1201 cgatcacaac tggggaggag gtggccctct gcctgcctcg cagtgaactc ctcttccagc
     1261 agtggcagcg gcaagggctg gtggcggcag cgctggagaa gctagagaaa ggcccggagt
     1321 tagggctgag ccagttctgt ggcagcctga agcaggctgc cccagccatc caggcctgtg
     1381 tggaagcctg caacctcatt gcctgtgccc ggcaccagca gagtcacttt gacaatggga
     1441 atgaggagtg gttcctggtg ggccgagtgc tggaccgcgt ctgcttcctg gccatgctct
     1501 cgctcttcat ctgtggcaca gctggcatct tcctcatggc ccactacaac cgggtgccgg
     1561 ccctgccatt ccctggagat ccacgcccct acctgccctc accagactga gccaaccaac
     1621 cactgtgggg catgtgggag tcacacacgt gggtcacact gagtcttatc agccacgttc
     1681 tcctactgag gtcctaagtg tgctctttgg gaagtgccct tcaggactgt gtgagccaaa
     1741 cagccctgag aaaagctggg gaaacagtct gagctggagt ccgagagtgg ttgggggtgg
     1801 gccgtggcta gtgtcctgct gcagtcagca cacacgtggg attggctagc tcatcctggc
     1861 accagccacc cctccactca gtgcactccc ctcacttagg caaagcatta ttcattccca
     1921 tcagtctgaa gcccgaagga ctgttttgta taataccttc ggacttggga ctggctcccc
     1981 ttttacaagt tctccctgaa agagggcagt cacaagaggt gtgaagagta gcagccgatg
     2041 ctctctccaa agcagggcag cagcccatac cagctggcat ctcccccccg tgccttctgg
     2101 gtacaataag cacccaattc tcaacagccc cagtggcctt tccattcatg tgcatttttc
     2161 tgccactgac cacaagacga tttcctgagt tttgtaatcc tctttttttt tttttttttt
     2221 ttagtttttg atgtgttgtt gttgttttgt ttagttttga gatagagcct cactcttgtc
     2281 atgcaagttg gagtggagtg gcatgatcat ggctcactgc agcctcaacc tccagggctc
     2341 aagcaatgct cctgcctcag cctcccaagt agctggcacc acaggcatgc accactacac
     2401 ccagctactt ttaaattttt agtagagatg aggttttgct atgttgccta ggttggtctt
     2461 gaactcctga gctcaagtga tcctcccact tgagtcttgg gattacaggc ataagccact
     2521 gtacctggcc tcctttttaa ttaagagctc ctcacagcag tatggataag caagagtcat
     2581 tattccccat gttatatagg caaattgagc ctagagtaag cgggactcca cacaacagtg
     2641 gtggttaaac aaggtttgaa gtccagaatt cctgactctg acccaatctg acactctaag
     2701 attctacggc ctgaaaaaca ggcccttctt cccaaaggat ggttaagaca aggaagagct
     2761 aggcaagagg aggtgtggag ttaacagaga gccactgagc tcttcattcc aggaggagac
     2821 tttgactggc ctcccttgac cccactaatc aggtagtaag gctggggtct tcctggggga
     2881 gaggcaaggt cctgctctga gattacagcc ggcacacgag tttggctggt aaccagggga
     2941 cacccttggg caagtcacct atgctccctg aggctgttcc ctcatctgta aataaggtgc
     3001 aaaaaataat ccattcctgg ccaggtgtgg tggctcacac ctgcaatccc agcaccttgg
     3061 gaggacaagg tgggtggact gcttgagctc aggagcccac gaacccagga acccagcctg
     3121 ggcaacatgg ggacacccgg cctctaccaa aaaatacaaa acttagctgg gcgtggtgat
     3181 gcatgcctgt agtcccagtt actcgggagg ctgaggtggg aggatcgctt gagcccagga
     3241 ggtctaggct gcagtgagct gtgatcatgt gactgcactc cagcctgatg acacagtaag
     3301 accctgtctc aaaaaaaata aaaaaattac aaaactgaaa aaagaaaagt gaaagtgcca
     3361 cataaaggcc tgacgacagg atatgctggc aggaggggac cttggaaata tgccctccct
     3421 ccaagcacag gattgctgtc tttgggattc aatcaccagc aagttcgtat tatttactcc
     3481 agtgtgagtc tgtgtctgtg catgcacagt gtgtttgaag caagagcaga gtcagagcta
     3541 tagagaacta gaggagttag ggagagtggg ggagaacttc aatcagggag ggaatctgat
     3601 gacagtgggg ccatttccgg ttcccaccag ccccttacta gttgtgtatc tggcacaagt
     3661 ctctcaacct ctctgaaagc ctcagagggc agaggattag ctccttgtac acaataaaca
     3721 ctcaaatgtt aacattagct gccattacta taagttactg tctcatggga tccatacagc
     3781 aacctaagga ggtaggtcga ggcatacctc aaagacattg caggttcagt tccagaccaa
     3841 cacaagaaag caagtcacat gaatgttttt ggtttcccaa tgcatataaa agttatgttt
     3901 acactatact gtagaccagc aagagtgcaa tagcattgtc taataaaaca atatacatac
     3961 ctaaatttaa aaatacttta ttgctaaaaa atgctgatta tcaatctga
//
