LOCUS       NM_145814               2501 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit gamma
            6 (CACNG6), transcript variant 1, mRNA.
ACCESSION   NM_145814
VERSION     NM_145814.2
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 2501)
  AUTHORS   Guan,F., Zhang,T., Liu,X., Han,W., Lin,H., Li,L., Chen,G. and Li,T.
  TITLE     Evaluation of voltage-dependent calcium channel gamma gene families
            identified several novel potential susceptible genes to
            schizophrenia
  JOURNAL   Sci Rep 6, 24914 (2016)
   PUBMED   27102562
  REMARK    GeneRIF: These results indicate that CACNG4, CACNG5, CACNG6 and
            CACNG8 may contribute to the risk of SCZ. The statistical epistasis
            identified between CACNG5 and CACNG6 suggests that there may be an
            underlying biological interaction between the two genes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2501)
  AUTHORS   Yang,L., Katchman,A., Morrow,J.P., Doshi,D. and Marx,S.O.
  TITLE     Cardiac L-type calcium channel (Cav1.2) associates with gamma
            subunits
  JOURNAL   FASEB J 25 (3), 928-936 (2011)
   PUBMED   21127204
REFERENCE   3  (bases 1 to 2501)
  AUTHORS   Lee,J.S., Kim,J.H., Bae,J.S., Kim,J.Y., Park,T.J., Pasaje,C.F.,
            Park,B.L., Cheong,H.S., Uh,S.T., Park,J.S., Jang,A.S., Kim,M.K.,
            Choi,I.S., Park,C.S. and Shin,H.D.
  TITLE     Association of CACNG6 polymorphisms with aspirin-intolerance
            asthmatics in a Korean population
  JOURNAL   BMC Med Genet 11, 138 (2010)
   PUBMED   20860846
  REMARK    GeneRIF: CACNG6 variants might be associated with the risk of
            aspirin-intolerant asthma in a Korean population.
            GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2501)
  AUTHORS   Chen,R.S., Deng,T.C., Garcia,T., Sellers,Z.M. and Best,P.M.
  TITLE     Calcium channel gamma subunits: a functionally diverse protein
            family
  JOURNAL   Cell Biochem Biophys 47 (2), 178-186 (2007)
   PUBMED   17652770
  REMARK    Review article
REFERENCE   5  (bases 1 to 2501)
  AUTHORS   Chu,P.J., Robertson,H.M. and Best,P.M.
  TITLE     Calcium channel gamma subunits provide insights into the evolution
            of this gene family
  JOURNAL   Gene 280 (1-2), 37-48 (2001)
   PUBMED   11738816
REFERENCE   6  (bases 1 to 2501)
  AUTHORS   Burgess,D.L., Gefrides,L.A., Foreman,P.J. and Noebels,J.L.
  TITLE     A cluster of three novel Ca2+ channel gamma subunit genes on
            chromosome 19q13.4: evolution and expression profile of the gamma
            subunit gene family
  JOURNAL   Genomics 71 (3), 339-350 (2001)
   PUBMED   11170751
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008440.9 and BC021552.1.
            
            On Jun 26, 2020 this sequence version replaced NM_145814.1.
            
            Summary: Voltage-dependent calcium channels are composed of five
            subunits. The protein encoded by this gene represents one of these
            subunits, gamma, and is one of two known gamma subunit proteins.
            This particular gamma subunit is an integral membrane protein that
            is thought to stabilize the calcium channel in an inactive (closed)
            state. This gene is part of a functionally diverse eight-member
            protein subfamily of the PMP-22/EMP/MP20 family and is located in a
            cluster with two family members that function as transmembrane AMPA
            receptor regulatory proteins (TARPs). Alternative splicing results
            in multiple transcript variants. Variants in this gene have been
            associated with aspirin-intolerant asthma. [provided by RefSeq, Dec
            2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC021552.1, AF288386.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252729.7/ ENSP00000252729.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-651               AC008440.9         136001-136651
            652-1041            BC021552.1         1-390
            1042-1042           AC008440.9         137042-137042
            1043-2501           BC021552.1         392-1850
FEATURES             Location/Qualifiers
     source          1..2501
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..2501
                     /gene="CACNG6"
                     /note="calcium voltage-gated channel auxiliary subunit
                     gamma 6"
                     /db_xref="GeneID:59285"
                     /db_xref="HGNC:HGNC:13625"
                     /db_xref="MIM:606898"
     exon            1..1572
                     /gene="CACNG6"
                     /inference="alignment:Splign:2.1.0"
     CDS             1242..2024
                     /gene="CACNG6"
                     /note="isoform a is encoded by transcript variant 1;
                     neuronal voltage-gated calcium channel gamma-6 subunit;
                     voltage-dependent calcium channel gamma-6 subunit; calcium
                     channel, voltage-dependent, gamma subunit 6"
                     /codon_start=1
                     /product="voltage-dependent calcium channel gamma-6
                     subunit isoform a"
                     /protein_id="NP_665813.1"
                     /db_xref="CCDS:CCDS12870.1"
                     /db_xref="GeneID:59285"
                     /db_xref="HGNC:HGNC:13625"
                     /db_xref="MIM:606898"
                     /translation="MMWSNFFLQEENRRRGAAGRRRAHGQGRSGLTPEREGKVKLALL
                     LAAVGATLAVLSVGTEFWVELNTYKANGSAVCEAAHLGLWKACTKRLWQADVPVDRDT
                     CGPAELPGEANCTYFKFFTTGENARIFQRTTKKEVNLAAAVIAVLGLAVMALGCLCII
                     MVLSKGAEFLLRVGAVCFGLSGLLLLVSLEVFRHSVRALLQRVSPEPPPAPRLTYEYS
                     WSLGCGVGAGLILLLGAGCFLLLTLPSWPWGSLCPKRGHRAT"
     exon            1573..1647
                     /gene="CACNG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1648..1785
                     /gene="CACNG6"
                     /inference="alignment:Splign:2.1.0"
     exon            1786..2501
                     /gene="CACNG6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2481..2486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNG6"
                     /note="hexamer: ATTAAA"
     polyA_site      2501
                     /gene="CACNG6"
                     /note="major polyA site"
ORIGIN      
        1 aggccggtgg cggtggcggg cacagccgga cgcttcggag gcagcgcgga gctggggtcg
       61 gcgcggggcc gaggcaggag agcgagaggg gcccctgctc gggagtcggg ggtgggagcc
      121 ccgagggggg gccctggcct ggggctgagc ctggcgcgaa cccgaccggg aaggccctgg
      181 gagcccgggg gagggagacg gactgatccc gaaggggcgc agcgtctctt gcgggtcgcg
      241 gttggccttt gaaccctggg gggactcagt cctggttttc cgagccgcag tgcggaccac
      301 agccccatag tgtgagcccc aggagggccc ccggtcccat ctgccccagc cctcggggag
      361 gccccgtagc ctcccgcctc tggactccac tctgtcttcc ggccaccggc cccttttcca
      421 ggctcagtag agacctcgga tcttttctga atggcagggg agacccctat ccccttttcc
      481 tgaattccag cgaggcccag tcctcttctg agccccagcc agggctctgt tcttctcctt
      541 ctgtggatgc cggggtccta ctgcctctct tgagacccgg attgaattcc gacctcccct
      601 tgggagcttc ccgggacccc aggtcttcct tttccgaatc ccagagggtc cccaagtcct
      661 ctgttctcaa actctgagcc caagggaacc ccggccacat ctcctccaaa cacacacagg
      721 acctcaggtc ccttcctggg taccccaaac tcttagccct agtggggtgc tcagatctct
      781 caggaaaacc agtttccctt ttgttaaccc cccagcgggg accccaaagc agccccttgg
      841 agctgcaggg agcttcagcg ggcaccagtt ctcattcctc tggagctctt ggggggactc
      901 cctcctggga agccgaattc tatctctaaa cctcagggtg ggggccttgt ttttcctctg
      961 ggccccgtct tctttgccaa gttcttgagg gcaacctaga ccctcctctg aaccccagag
     1021 gcttccccag ccctggggat catttttctc ttctgaaccc cagaagcaat ctcgactttc
     1081 gcatttgaga ttccagacag gactcggctc tccctctttc atacccaggg gaaactgagt
     1141 ccctcacccc cttcaagacc ccaggccgct cctcgctccc gcccctcgag gcccttcgcc
     1201 ggctctgcct cctccccctt cccgacccca ccggccataa gatgatgtgg tccaacttct
     1261 tcctgcaaga ggagaaccgg cggcgggggg ccgcgggccg gcggcgggcg cacgggcagg
     1321 gcaggtcggg gctgacgccc gagcgcgagg ggaaggtgaa gctggcgctg ctgctggccg
     1381 ccgtgggcgc cacgctggcg gtgctgtccg tgggcaccga gttctgggtg gagctcaaca
     1441 cctacaaggc caacggcagc gccgtgtgcg aagcggccca cctggggctg tggaaggcgt
     1501 gcaccaagcg gctgtggcag gcggacgtgc ccgtggacag ggacacctgc ggccccgcgg
     1561 agctgcccgg agaagcaaac tgcacctatt ttaaattctt caccacgggg gagaatgcac
     1621 gcatctttca gagaaccaca aagaaagagg tgaatctggc agctgcggtg atagcagtgc
     1681 tgggcctggc agtcatggcc ttggggtgcc tctgtatcat catggtgctc agtaaaggtg
     1741 cagagttcct gctccgagtt ggagccgtct gctttggcct ctcaggcctg ctgctcttgg
     1801 tgagcctgga ggtgttccgg cattccgtga gggccctgct gcagagagtc agcccggagc
     1861 ctcccccggc cccacgcctc acctacgagt actcctggtc cctgggctgc ggcgtggggg
     1921 ccggcctgat cctgctgttg ggggccggct gctttctgct gctcacactg ccttcctggc
     1981 cctgggggtc cctctgtccc aagcgggggc accgggccac ctagagccac gcgtgagact
     2041 tctctaagca accaccgagc cctttgacct tctccattgt acccccaaga tctttttgcc
     2101 ccatctccta gagaaactgt gttctccctg ctcgggggcc catgtttttt tacacgcctg
     2161 cctcctgtcc ccttatcctt tctccctctg taaatacgtt tttctctgtg gctgtatgtg
     2221 ggttgcttgg gggtgggatg ggaagaggct ctttgcaaac gagggtcccc agagaagact
     2281 ggcggggacc tgatggggta gctggggtgt ggggttgggg gatgaggtca gggggtcttg
     2341 ggtgggagtt gggggcccct tcatttccca ggtctggatc gattcacttg ccgggagaga
     2401 ctttttacaa ctcatctgca gctccgggtg cggttggggg agatagcgaa gggtctggcc
     2461 tcgctgtgat ctgatttggg attaaaggtt tggaaattta a
//
