LOCUS       NM_005140               3285 bp    mRNA    linear   PRI 05-AUG-2024
DEFINITION  Homo sapiens cyclic nucleotide gated channel subunit alpha 2
            (CNGA2), mRNA.
ACCESSION   NM_005140 XM_372263
VERSION     NM_005140.3
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 3285)
  AUTHORS   Sailani,M.R., Jingga,I., MirMazlomi,S.H., Bitarafan,F.,
            Bernstein,J.A., Snyder,M.P. and Garshasbi,M.
  TITLE     Isolated Congenital Anosmia and CNGA2 Mutation
  JOURNAL   Sci Rep 7 (1), 2667 (2017)
   PUBMED   28572688
  REMARK    GeneRIF: The studies findings provides strong support for role of
            CNGA2 gene with pathogenicity of isolated congenital anosmia in
            humans. Together, these results indicate that mutations in key
            olfactory signaling pathway genes are responsible for human
            disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3285)
  AUTHORS   Karstensen,H.G., Mang,Y., Fark,T., Hummel,T. and Tommerup,N.
  TITLE     The first mutation in CNGA2 in two brothers with anosmia
  JOURNAL   Clin Genet 88 (3), 293-296 (2015)
   PUBMED   25156905
  REMARK    GeneRIF: Identification of a novel X-linked stop mutation in CNGA2
            (c.634C>T, p.R212*) in two brothers with isolated congenital
            anosmia.
REFERENCE   3  (bases 1 to 3285)
  AUTHORS   Qu,W., Moorhouse,A.J., Chandra,M., Pierce,K.D., Lewis,T.M. and
            Barry,P.H.
  TITLE     A single P-loop glutamate point mutation to either lysine or
            arginine switches the cation-anion selectivity of the CNGA2 channel
  JOURNAL   J Gen Physiol 127 (4), 375-389 (2006)
   PUBMED   16533895
  REMARK    GeneRIF: The results showed that it is predominantly the charge of
            the E342 residue in the P-loop, rather than the pore helix dipoles,
            which controls the cation-anion selectivity of the CNGA2 channel.
REFERENCE   4  (bases 1 to 3285)
  AUTHORS   Hofmann,F., Biel,M. and Kaupp,U.B.
  TITLE     International Union of Pharmacology. LI. Nomenclature and
            structure-function relationships of cyclic nucleotide-regulated
            channels
  JOURNAL   Pharmacol Rev 57 (4), 455-462 (2005)
   PUBMED   16382102
  REMARK    Review article
REFERENCE   5  (bases 1 to 3285)
  AUTHORS   Yoo,D., Flagg,T.P., Olsen,O., Raghuram,V., Foskett,J.K. and
            Welling,P.A.
  TITLE     Assembly and trafficking of a multiprotein ROMK (Kir 1.1) channel
            complex by PDZ interactions
  JOURNAL   J Biol Chem 279 (8), 6863-6873 (2004)
   PUBMED   14604981
REFERENCE   6  (bases 1 to 3285)
  AUTHORS   Cheng,K.T., Chan,F.L., Huang,Y., Chan,W.Y. and Yao,X.
  TITLE     Expression of olfactory-type cyclic nucleotide-gated channel
            (CNGA2) in vascular tissues
  JOURNAL   Histochem Cell Biol 120 (6), 475-481 (2003)
   PUBMED   14618336
REFERENCE   7  (bases 1 to 3285)
  AUTHORS   Trudeau,M.C. and Zagotta,W.N.
  TITLE     Calcium/calmodulin modulation of olfactory and rod cyclic
            nucleotide-gated ion channels
  JOURNAL   J Biol Chem 278 (21), 18705-18708 (2003)
   PUBMED   12626507
  REMARK    Review article
REFERENCE   8  (bases 1 to 3285)
  AUTHORS   Sautter,A., Zong,X., Hofmann,F. and Biel,M.
  TITLE     An isoform of the rod photoreceptor cyclic nucleotide-gated channel
            beta subunit expressed in olfactory neurons
  JOURNAL   Proc Natl Acad Sci U S A 95 (8), 4696-4701 (1998)
   PUBMED   9539801
REFERENCE   9  (bases 1 to 3285)
  AUTHORS   Finn,J.T., Krautwurst,D., Schroeder,J.E., Chen,T.Y., Reed,R.R. and
            Yau,K.W.
  TITLE     Functional co-assembly among subunits of
            cyclic-nucleotide-activated, nonselective cation channels, and
            across species from nematode to human
  JOURNAL   Biophys J 74 (3), 1333-1345 (1998)
   PUBMED   9512030
REFERENCE   10 (bases 1 to 3285)
  AUTHORS   Distler,M., Biel,M., Flockerzi,V. and Hofmann,F.
  TITLE     Expression of cyclic nucleotide-gated cation channels in
            non-sensory tissues and cells
  JOURNAL   Neuropharmacology 33 (11), 1275-1282 (1994)
   PUBMED   7532814
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF002992.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 23, 2021 this sequence version replaced NM_005140.2.
            
            Summary: The protein encoded by this gene represents the alpha
            subunit of a cyclic nucleotide-gated olfactory channel. The encoded
            protein contains a carboxy-terminal leucine zipper that mediates
            channel formation. [provided by RefSeq, Jan 2010].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK128186.1, BC126304.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2148093 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329903.5/ ENSP00000328478.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-198               AF002992.2         28512-28709
            199-334             AF002992.2         32224-32359
            335-427             AF002992.2         32553-32645
            428-598             AF002992.2         33328-33498
            599-706             AF002992.2         34560-34667
            707-813             AF002992.2         36302-36408
            814-3285            AF002992.2         36859-39330
FEATURES             Location/Qualifiers
     source          1..3285
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3285
                     /gene="CNGA2"
                     /gene_synonym="CNCA; CNCA1; CNG2; OCNC1; OCNCa; OCNCALPHA"
                     /note="cyclic nucleotide gated channel subunit alpha 2"
                     /db_xref="GeneID:1260"
                     /db_xref="HGNC:HGNC:2149"
                     /db_xref="MIM:300338"
     exon            1..198
                     /gene="CNGA2"
                     /gene_synonym="CNCA; CNCA1; CNG2; OCNC1; OCNCa; OCNCALPHA"
                     /inference="alignment:Splign:2.1.0"
     exon            199..334
                     /gene="CNGA2"
                     /gene_synonym="CNCA; CNCA1; CNG2; OCNC1; OCNCa; OCNCALPHA"
                     /inference="alignment:Splign:2.1.0"
     CDS             225..2219
                     /gene="CNGA2"
                     /gene_synonym="CNCA; CNCA1; CNG2; OCNC1; OCNCa; OCNCALPHA"
                     /note="cyclic-nucleotide-gated cation channel 2; cyclic
                     nucleotide-gated olfactory channel; cyclic nucleotide
                     gated channel alpha 2; CNG channel alpha-2; olfactory
                     cyclic nucleotide-gated channel subunit 1"
                     /codon_start=1
                     /product="cyclic nucleotide-gated channel alpha-2"
                     /protein_id="NP_005131.1"
                     /db_xref="CCDS:CCDS14701.1"
                     /db_xref="GeneID:1260"
                     /db_xref="HGNC:HGNC:2149"
                     /db_xref="MIM:300338"
                     /translation="MTEKTNGVKSSPANNHNHHAPPAIKANGKDDHRTSSRPHSAADD
                     DTSSELQRLADVDAPQQGRSGFRRIVRLVGIIREWANKNFREEEPRPDSFLERFRGPE
                     LQTVTTQEGDGKGDKDGEDKGTKKKFELFVLDPAGDWYYCWLFVIAMPVLYNWCLLVA
                     RACFSDLQKGYYLVWLVLDYVSDVVYIADLFIRLRTGFLEQGLLVKDTKKLRDNYIHT
                     LQFKLDVASIIPTDLIYFAVDIHSPEVRFNRLLHFARMFEFFDRTETRTNYPNIFRIS
                     NLVLYILVIIHWNACIYYAISKSIGFGVDTWVYPNITDPEYGYLAREYIYCLYWSTLT
                     LTTIGETPPPVKDEEYLFVIFDFLIGVLIFATIVGNVGSMISNMNATRAEFQAKIDAV
                     KHYMQFRKVSKGMEAKVIRWFDYLWTNKKTVDEREILKNLPAKLRAEIAINVHLSTLK
                     KVRIFHDCEAGLLVELVLKLRPQVFSPGDYICRKGDIGKEMYIIKEGKLAVVADDGVT
                     QYALLSAGSCFGEISILNIKGSKMGNRRTANIRSLGYSDLFCLSKDDLMEAVTEYPDA
                     KKVLEERGREILMKEGLLDENEVATSMEVDVQEKLGQLETNMETLYTRFGRLLAEYTG
                     AQQKLKQRITVLETKMKQNNEDDYLSDGMNSPELAAADEP"
     exon            335..427
                     /gene="CNGA2"
                     /gene_synonym="CNCA; CNCA1; CNG2; OCNC1; OCNCa; OCNCALPHA"
                     /inference="alignment:Splign:2.1.0"
     exon            428..598
                     /gene="CNGA2"
                     /gene_synonym="CNCA; CNCA1; CNG2; OCNC1; OCNCa; OCNCALPHA"
                     /inference="alignment:Splign:2.1.0"
     exon            599..706
                     /gene="CNGA2"
                     /gene_synonym="CNCA; CNCA1; CNG2; OCNC1; OCNCa; OCNCALPHA"
                     /inference="alignment:Splign:2.1.0"
     exon            707..813
                     /gene="CNGA2"
                     /gene_synonym="CNCA; CNCA1; CNG2; OCNC1; OCNCa; OCNCALPHA"
                     /inference="alignment:Splign:2.1.0"
     exon            814..3285
                     /gene="CNGA2"
                     /gene_synonym="CNCA; CNCA1; CNG2; OCNC1; OCNCa; OCNCALPHA"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agtagactct attatttcaa gaaagatggc gtggataaac tgttagatgc tgctcagaaa
       61 cacaatagaa catggacaga gaagtgactt gggataaatc gtgttcctgt ctatctctta
      121 ctctgggacc accactgagc tcgagactgc cagacacttc tttctaaact cagcacccag
      181 caaaggacct ggcacataat aagtgctctg gttgtacatg gaggatgacc gaaaaaacca
      241 atggtgtgaa gagctcccca gccaataatc acaaccatca tgcacctcct gccatcaagg
      301 ccaatggcaa agatgaccac aggacaagca gcaggccaca ctctgcagct gacgatgaca
      361 cctcctcaga actgcagagg ctggcagacg tggatgcccc acagcaggga aggagtggct
      421 tccgcaggat agttcgcctg gtggggatca tcagagaatg ggccaacaag aatttccgag
      481 aggaggaacc taggcctgac tcattcctcg agcgttttcg tgggcctgaa ctccagactg
      541 tgaccacaca ggagggggat ggcaaaggcg acaaggatgg cgaggacaaa ggcaccaaga
      601 agaaatttga actatttgtc ttggacccag ctggggattg gtactactgc tggctatttg
      661 tcattgccat gcccgtcctt tacaactggt gcctgctggt ggccagagcc tgcttcagtg
      721 acctacagaa aggctactac ctggtgtggc tggtgctgga ttatgtctca gatgtggtct
      781 acattgcgga cctcttcatc cgattgcgca caggtttcct ggagcagggg ctgctggtca
      841 aagataccaa gaaactgcga gacaactaca tccacaccct gcagttcaag ctggatgtgg
      901 cttccatcat ccccactgac ctgatctatt ttgctgtgga catccacagc cctgaggtgc
      961 gcttcaaccg cctgctgcac tttgcccgca tgtttgagtt ctttgaccgg acagagacac
     1021 gcaccaacta ccctaacatc ttccgcatca gcaaccttgt cctctacatc ttggtcatca
     1081 tccactggaa tgcctgcatc tattatgcca tctccaaatc cataggcttt ggggtcgaca
     1141 cctgggttta cccaaacatc actgaccctg agtatggcta cctggctagg gaatacatct
     1201 attgccttta ctggtccaca ctgactctca ctaccattgg ggagacacca ccccctgtaa
     1261 aggatgagga gtacctattt gtcatctttg acttcctgat tggcgtcctc atctttgcca
     1321 ccatcgtggg aaatgtgggc tccatgatct ccaacatgaa tgccacccgg gcagagttcc
     1381 aggctaagat cgatgccgtg aaacactaca tgcagttccg aaaggtcagc aaggggatgg
     1441 aagccaaggt cattaggtgg tttgactact tgtggaccaa taagaagaca gtggatgagc
     1501 gagaaattct caagaatctg ccagccaagc tcagggctga gatagccatc aatgtccact
     1561 tgtccacact caagaaagtg cgcatcttcc atgattgtga ggctggcctg ctggtagagc
     1621 tggtactgaa actccgtcct caggtcttca gtcctgggga ttacatttgc cgcaaagggg
     1681 acatcggcaa ggagatgtac atcattaagg agggcaaact ggcagtggtg gctgatgatg
     1741 gtgtgactca gtatgctctg ctgtcggctg gaagctgctt tggcgagatc agtatcctta
     1801 acattaaggg cagtaaaatg ggcaatcgac gcacagctaa tatccgcagc ctgggctact
     1861 cagatctctt ctgcttgtcc aaggatgatc ttatggaagc tgtgactgag taccctgatg
     1921 ccaagaaagt cctagaagag aggggtcggg agatcctcat gaaggaggga ctgctggatg
     1981 agaacgaagt ggcaaccagc atggaggtcg acgtgcagga gaagctaggg cagctggaga
     2041 ccaacatgga aaccttgtac actcgctttg gccgcctgct ggctgagtac acgggggccc
     2101 agcagaagct caagcagcgc atcacagttc tggaaaccaa gatgaaacag aacaatgaag
     2161 atgactacct gtctgatggg atgaacagcc ctgagctggc tgctgctgac gagccataag
     2221 acctggggcc caactgcctc tccagcattg gccttggcct tgatcccaga agctagagga
     2281 gctatttaga tctccggatt tacatgcatt accctcatgt tccctgaatt ctcccaaaag
     2341 cctctctgac cctgggtttt tggcctaaac atccaagatt ccgcctccaa gtttagccca
     2401 agtttgtgga gagtacagac tgcgttggct gggcttccga gagcttcggc ctgcctaagt
     2461 ctgaggaagg gagaaggggg cagctgtctg ccaggagtct ggctcttttg ctcatagcga
     2521 cccctccctt ggttctggcc cccgcttttt ctaacatgtc ttctgaatgc ttcctttttc
     2581 cctgcacacg catgtacttc gagcaccgac tatagacatt tagatcaggt acccagtgtc
     2641 tgtctcccac gacaggccaa gggatgtgat agtgttgttg ggagggggta gaagggtgcc
     2701 cactcagggt tattcctccc ccatcagatg ctccagctcc tgctctgtag attgatctgt
     2761 ctgtctgcta gccaggatgg gatctctgca gtcttctgtg gaccaaggag atagacccgg
     2821 cttctggtcc attccagggc agggagtgag gagcaaggca actggcattt gtccacctgg
     2881 agacagaggt agctggcagc tctggccatc cctcccctat gaagagcatt cctaaagagg
     2941 ccctgaaaac tgctggtggt ggggagactc ttcaagttaa tatctgcatt agaggcacct
     3001 atgagttaaa aaattccttt gaactatctg tggttattgc tcaactctgc tgttcacatt
     3061 ctctccctcc cttcattaat ccctctcttt tcaccatatg gttgtccctc agtattcatc
     3121 agggattgct ttcaggagtc cccatggata ccaaaatttg tggatgttca agtccctgat
     3181 acaaaatgac gtcgtatttg aatataacct atgcacatcc tcccatactt taagtcatct
     3241 ctcgattatt tgtaacacct aatacaatgt cagtgctatg taaat
//
