LOCUS       NM_006539               1917 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit gamma
            3 (CACNG3), mRNA.
ACCESSION   NM_006539
VERSION     NM_006539.4
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 1917)
  AUTHORS   Shan,E., Cao,Y.N., Zhang,Y., Chen,W., Ren,X., Zhu,S., Xi,X., Mu,S.,
            Ma,M., Zhi,T. and Li,X.
  TITLE     Integrated profiling identifies CACNG3 as a prognostic biomarker
            for patients with glioma
  JOURNAL   BMC Cancer 23 (1), 846 (2023)
   PUBMED   37697240
  REMARK    GeneRIF: Integrated profiling identifies CACNG3 as a prognostic
            biomarker for patients with glioma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1917)
  AUTHORS   Spencer,K.L., Olson,L.M., Schnetz-Boutaud,N., Gallins,P., Wang,G.,
            Scott,W.K., Agarwal,A., Jakobsdottir,J., Conley,Y., Weeks,D.E.,
            Gorin,M.B., Pericak-Vance,M.A. and Haines,J.L.
  TITLE     Dissection of chromosome 16p12 linkage peak suggests a possible
            role for CACNG3 variants in age-related macular degeneration
            susceptibility
  JOURNAL   Invest Ophthalmol Vis Sci 52 (3), 1748-1754 (2011)
   PUBMED   21169531
  REMARK    GeneRIF: These results suggest that CACNG3 is the best candidate
            for an age-related macular degeneration risk gene within the 16p12
            linkage peak.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1917)
  AUTHORS   Kato,A.S., Gill,M.B., Yu,H., Nisenbaum,E.S. and Bredt,D.S.
  TITLE     TARPs differentially decorate AMPA receptors to specify
            neuropharmacology
  JOURNAL   Trends Neurosci 33 (5), 241-248 (2010)
   PUBMED   20219255
  REMARK    Review article
REFERENCE   4  (bases 1 to 1917)
  AUTHORS   Sager,C., Tapken,D., Kott,S. and Hollmann,M.
  TITLE     Functional modulation of AMPA receptors by transmembrane AMPA
            receptor regulatory proteins
  JOURNAL   Neuroscience 158 (1), 45-54 (2009)
   PUBMED   18304745
  REMARK    Review article
REFERENCE   5  (bases 1 to 1917)
  AUTHORS   Everett,K.V., Chioza,B., Aicardi,J., Aschauer,H., Brouwer,O.,
            Callenbach,P., Covanis,A., Dulac,O., Eeg-Olofsson,O., Feucht,M.,
            Friis,M., Goutieres,F., Guerrini,R., Heils,A., Kjeldsen,M.,
            Lehesjoki,A.E., Makoff,A., Nabbout,R., Olsson,I., Sander,T.,
            Siren,A., McKeigue,P., Robinson,R., Taske,N., Rees,M. and
            Gardiner,M.
  TITLE     Linkage and association analysis of CACNG3 in childhood absence
            epilepsy
  JOURNAL   Eur J Hum Genet 15 (4), 463-472 (2007)
   PUBMED   17264864
  REMARK    GeneRIF: CACNG3 on chromosome 16p12-p13.1 may represent
            susceptibility loci for CAE.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Eur J Hum Genet. 2008 May;16(5):659-60]
REFERENCE   6  (bases 1 to 1917)
  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   7  (bases 1 to 1917)
  AUTHORS   Moss,F.J., Dolphin,A.C. and Clare,J.J.
  TITLE     Human neuronal stargazin-like proteins, gamma2, gamma3 and gamma4;
            an investigation of their specific localization in human brain and
            their influence on CaV2.1 voltage-dependent calcium channels
            expressed in Xenopus oocytes
  JOURNAL   BMC Neurosci 4, 23 (2003)
   PUBMED   14505496
  REMARK    GeneRIF: examined distribution of the stargazin-like proteins
            gamma2, gamma3, and gamma4 in human CNS: gamma2 is expressed in
            cerebellum, cerebral cortex, hippocampus and thalamus, whereas
            gamma3 abounds in cerebral cortex & amygdala and gamma4 in basal
            ganglia
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1917)
  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
REFERENCE   9  (bases 1 to 1917)
  AUTHORS   Burgess,D.L., Davis,C.F., Gefrides,L.A. and Noebels,J.L.
  TITLE     Identification of three novel Ca(2+) channel gamma subunit genes
            reveals molecular diversification by tandem and chromosome
            duplication
  JOURNAL   Genome Res 9 (12), 1204-1213 (1999)
   PUBMED   10613843
REFERENCE   10 (bases 1 to 1917)
  AUTHORS   Black,J.L. 3rd and Lennon,V.A.
  TITLE     Identification and cloning of putative human neuronal voltage-gated
            calcium channel gamma-2 and gamma-3 subunits: neurologic
            implications
  JOURNAL   Mayo Clin Proc 74 (4), 357-361 (1999)
   PUBMED   10221464
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004125.1.
            
            On Aug 14, 2019 this sequence version replaced NM_006539.3.
            
            Summary: The protein encoded by this gene is a type I transmembrane
            AMPA receptor regulatory protein (TARP). TARPs regulate both
            trafficking and channel gating of the AMPA receptors. This gene is
            part of a functionally diverse eight-member protein subfamily of
            the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for
            childhood absence epilepsy. [provided by RefSeq, Dec 2010].
            
            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 :: AK095553.1, BC037899.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000005284.4/ ENSP00000005284.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-631               AC004125.1         11234-11864
            632-715             AC004125.1         101633-101716
            716-856             AC004125.1         109732-109872
            857-1917            AC004125.1         116251-117311
FEATURES             Location/Qualifiers
     source          1..1917
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.1"
     gene            1..1917
                     /gene="CACNG3"
                     /note="calcium voltage-gated channel auxiliary subunit
                     gamma 3"
                     /db_xref="GeneID:10368"
                     /db_xref="HGNC:HGNC:1407"
                     /db_xref="MIM:606403"
     exon            1..631
                     /gene="CACNG3"
                     /inference="alignment:Splign:2.1.0"
     CDS             421..1368
                     /gene="CACNG3"
                     /note="neuronal voltage-gated calcium channel gamma-3
                     subunit; voltage-gated calcium channel gamma subunit; TARP
                     gamma-3; transmembrane AMPAR regulatory protein gamma-3;
                     calcium channel, voltage-dependent, gamma subunit 3"
                     /codon_start=1
                     /product="voltage-dependent calcium channel gamma-3
                     subunit"
                     /protein_id="NP_006530.1"
                     /db_xref="CCDS:CCDS10620.1"
                     /db_xref="GeneID:10368"
                     /db_xref="HGNC:HGNC:1407"
                     /db_xref="MIM:606403"
                     /translation="MRMCDRGIQMLITTVGAFAAFSLMTIAVGTDYWLYSRGVCRTKS
                     TSDNETSRKNEEVMTHSGLWRTCCLEGAFRGVCKKIDHFPEDADYEQDTAEYLLRAVR
                     ASSVFPILSVTLLFFGGLCVAASEFHRSRHNVILSAGIFFVSAGLSNIIGIIVYISAN
                     AGDPGQRDSKKSYSYGWSFYFGAFSFIIAEIVGVVAVHIYIEKHQQLRAKSHSEFLKK
                     STFARLPPYRYRFRRRSSSRSTEPRSRDLSPISKGFHTIPSTDISMFTLSRDPSKITM
                     GTLLNSDRDHAFLQFHNSTPKEFKESLHNNPANRRTTPV"
     exon            632..715
                     /gene="CACNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            716..856
                     /gene="CACNG3"
                     /inference="alignment:Splign:2.1.0"
     exon            857..1917
                     /gene="CACNG3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1890..1895
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNG3"
                     /note="hexamer: ATTAAA"
     polyA_site      1917
                     /gene="CACNG3"
                     /note="major polyA site"
ORIGIN      
        1 acactcacac agagacctct ctgggtttct ttgccttgag tctcccgggg ctgtgagaag
       61 ccaggcgcat ctcaaaccga gctggcagct ccaggctccg gagccatgcc ctgcacggac
      121 cctcgtcttt accacgctcc tgaggaatga aaggaaccca gggaccctca gaaggcagca
      181 gtgatgcgga ccaacccccc ggagcctgca cccttccgag ggccataggc gacccaggga
      241 actggagaga gctccagaaa ggaaatccca gctttcccaa agtccctgtg gatgctgaca
      301 aaaggagacc tgaatttttg gaagagcctg tactaggtta cccggctgca gagtgatttt
      361 cccctccggc actgactctc cccctccaac ccccagccgt ccagagtacc atgaagaatt
      421 atgaggatgt gtgacagagg tatccagatg ttgatcacca ctgtaggagc ctttgccgct
      481 tttagtttaa tgaccattgc agtgggcacg gactactggt tatattccag aggtgtgtgc
      541 aggactaaat ctacaagtga taatgaaacc agcaggaaga atgaagaagt aatgacccat
      601 tcggggctgt ggaggacctg ctgcctagaa ggggctttcc gaggcgtgtg caagaaaatc
      661 gatcacttcc ctgaagatgc tgactacgaa caggacacag ccgaatatct cctgcgagct
      721 gtgagggcct ccagtgtctt ccccatcctc agtgtcacgc tgctgttctt cggcgggctc
      781 tgcgtggcag ccagtgagtt ccaccgcagc agacacaacg tcattctcag cgcgggcatc
      841 ttttttgtct ctgcagggtt aagcaacatc attggcatca tagtttatat atcagccaac
      901 gccggagacc ccgggcagcg tgactccaaa aaaagttact cctatggttg gtccttttat
      961 ttcggagcct tctctttcat catcgcagaa attgtaggag tggttgccgt gcacatctat
     1021 attgaaaaac atcagcagtt acgagccaaa tcccactcgg agttcctgaa gaaatctact
     1081 tttgcccgcc tcccacccta caggtatcga ttccggaggc ggtcaagttc tcgctccacc
     1141 gagcccagat cccgagacct gtcccccatc agcaaaggct tccacaccat cccttccact
     1201 gacatctcga tgttcaccct ctcccgggac ccctcaaaga tcaccatggg gaccctcctc
     1261 aactccgacc gggaccacgc ttttctacag ttccacaatt ccacacccaa agagttcaaa
     1321 gagtcactgc ataataatcc ggccaacagg cgcaccacgc ccgtctgaac tgacctctga
     1381 cctctgcccc acgcccagca cagccttggg ggaagtgtac agagatgtct ctgaggttgc
     1441 atggcatggt ccttgtgatg gtattacttt ttacaaagaa tgaaaccaaa tggactcagc
     1501 cctctcccac attttcccct caccctccaa gtcctaaccc ctccatcctc tctaactttt
     1561 caagccaatc ccttaatgtc attcctctct ctgtgtatct gtgccagatg ttttcctttc
     1621 ttccttcttt actggaagga cctccacatt cttccctcct tggaagagga ctttactaaa
     1681 agtcacaggt ggtggccagg ggggatttcc gaatctccat caggcgcgct catagttgtc
     1741 cccattgtct acccacacaa atcctcagga aaccaaccac cgcccaggtg gccctgaggg
     1801 aggcattcac ctttatgtgt tagaaaaaca tgaccagaaa tcaaagatgt cagagccccg
     1861 aagcagctaa tgtaataagc actcatgtta ttaaaggttt tgccttgtcg taaccaa
//
