LOCUS       NM_006078               5642 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens calcium voltage-gated channel auxiliary subunit gamma
            2 (CACNG2), transcript variant 1, mRNA.
ACCESSION   NM_006078 XR_017893
VERSION     NM_006078.5
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 5642)
  AUTHORS   Stincic,T., Gayet-Primo,J., Taylor,W.R. and Puthussery,T.
  TITLE     TARPgamma2 Is Required for Normal AMPA Receptor Expression and
            Function in Direction-Selective Circuits of the Mammalian Retina
  JOURNAL   eNeuro 10 (8) (2023)
   PUBMED   37491367
  REMARK    GeneRIF: TARPgamma2 Is Required for Normal AMPA Receptor Expression
            and Function in Direction-Selective Circuits of the Mammalian
            Retina.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5642)
  AUTHORS   Mejia-Terrazas,G.E., Lopez-Munoz,E., Hidalgo-Bravo,A.,
            Santamaria-Olmedo,M.G. and Valdes-Flores,M.
  TITLE     Association between CACNG2 polymorphisms (rs4820242, rs2284015 and
            rs2284017) and chronic peripheral neuropathic pain risk in a
            Mexican population
  JOURNAL   Eur Rev Med Pharmacol Sci 26 (12), 4354-4366 (2022)
   PUBMED   35776036
  REMARK    GeneRIF: Association between CACNG2 polymorphisms (rs4820242,
            rs2284015 and rs2284017) and chronic peripheral neuropathic pain
            risk in a Mexican population.
REFERENCE   3  (bases 1 to 5642)
  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   4  (bases 1 to 5642)
  AUTHORS   Miranda,A., Shekhtman,T., McCarthy,M., DeModena,A., Leckband,S.G.
            and Kelsoe,J.R.
  TITLE     Study of 45 candidate genes suggests CACNG2 may be associated with
            lithium response in bipolar disorder
  JOURNAL   J Affect Disord 248, 175-179 (2019)
   PUBMED   30738251
  REMARK    GeneRIF: Lithium response in Bipolar Disorder was significantly
            associated with single nucleotide polymorphism in CACNG2 in both
            the prospective and retrospective cohorts.
REFERENCE   5  (bases 1 to 5642)
  AUTHORS   Bortsov,A.V., Devor,M., Kaunisto,M.A., Kalso,E., Brufsky,A.,
            Kehlet,H., Aasvang,E., Bittner,R., Diatchenko,L. and Belfer,I.
  TITLE     CACNG2 polymorphisms associate with chronic pain after mastectomy
  JOURNAL   Pain 160 (3), 561-568 (2019)
   PUBMED   30371558
  REMARK    GeneRIF: The results of this study conclude that the A-C-C
            haplotype at the 3 single-nucleotide polymorphisms (rs4820242,
            rs2284015, and rs2284017) in the CACNG2 gene is associated with
            increased risk of developing Chronic postmastectomy pain.
REFERENCE   6  (bases 1 to 5642)
  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   7  (bases 1 to 5642)
  AUTHORS   Chen,L., Chetkovich,D.M., Petralia,R.S., Sweeney,N.T., Kawasaki,Y.,
            Wenthold,R.J., Bredt,D.S. and Nicoll,R.A.
  TITLE     Stargazin regulates synaptic targeting of AMPA receptors by two
            distinct mechanisms
  JOURNAL   Nature 408 (6815), 936-943 (2000)
   PUBMED   11140673
REFERENCE   8  (bases 1 to 5642)
  AUTHORS   Burgess,D.L., Matsuura,T., Ashizawa,T. and Noebels,J.L.
  TITLE     Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on
            chromosome 22q13
  JOURNAL   Epilepsia 41 (1), 24-27 (2000)
   PUBMED   10643919
REFERENCE   9  (bases 1 to 5642)
  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
REFERENCE   10 (bases 1 to 5642)
  AUTHORS   Letts,V.A., Felix,R., Biddlecome,G.H., Arikkath,J., Mahaffey,C.L.,
            Valenzuela,A., Bartlett,F.S. 2nd, Mori,Y., Campbell,K.P. and
            Frankel,W.N.
  TITLE     The mouse stargazer gene encodes a neuronal Ca2+-channel gamma
            subunit
  JOURNAL   Nat Genet 19 (4), 340-347 (1998)
   PUBMED   9697694
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Laure Lemmens. The reference sequence was
            derived from AL049749.2, AL031845.7 and AL022313.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 19, 2020 this sequence version replaced NM_006078.4.
            
            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. The AMPA
            subtype of ionotropic glutamate receptors are ligand gated ion
            channels that are typically activated by glutamate released from
            presynaptic neuron terminals and mediate fast neurotransmission in
            excitatory synapses. TARPs thus play an important role in synaptic
            plasticity, learning and memory. Mutations in this gene cause an
            autosomal dominant form of cognitive disability. [provided by
            RefSeq, Jul 2017].
            
            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 :: BC112299.1, CR456414.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300105.7/ ENSP00000300105.6
            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
            1-1387              AL049749.2         48847-50233         c
            1388-1471           AL031845.7         14618-14701         c
            1472-1612           AL022313.1         118651-118791       c
            1613-5642           AL022313.1         113155-117184       c
FEATURES             Location/Qualifiers
     source          1..5642
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..5642
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /note="calcium voltage-gated channel auxiliary subunit
                     gamma 2"
                     /db_xref="GeneID:10369"
                     /db_xref="HGNC:HGNC:1406"
                     /db_xref="MIM:602911"
     exon            1..1387
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /inference="alignment:Splign:2.1.0"
     CDS             1177..2148
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neuronal voltage-gated calcium channel gamma-2 subunit;
                     stargazin; TARP gamma-2; transmembrane AMPAR regulatory
                     protein gamma-2"
                     /codon_start=1
                     /product="voltage-dependent calcium channel gamma-2
                     subunit isoform 1"
                     /protein_id="NP_006069.1"
                     /db_xref="CCDS:CCDS13931.1"
                     /db_xref="GeneID:10369"
                     /db_xref="HGNC:HGNC:1406"
                     /db_xref="MIM:602911"
                     /translation="MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKS
                     VSENETSKKNEEVMTHSGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVR
                     ASSIFPILSVILLFMGGLCIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISAN
                     AGDPSKSDSKKNSYSYGWSFYFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYL
                     QASAITRIPSYRYRYQRRSRSSSRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRD
                     PLKAATTPTATYNSDRDNSFLQVHNCIQKENKDSLHSNTANRRTTPV"
     exon            1388..1471
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1612
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..5642
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2249
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /note="major polyA site"
     regulatory      2365..2370
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /note="hexamer: AACAAA"
     polyA_site      2399
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /note="major polyA site"
     regulatory      2443..2448
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /note="hexamer: GATAAA"
     regulatory      2464..2469
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /note="hexamer: AATAAA"
     polyA_site      2465
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /note="major polyA site"
     polyA_site      2485
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
     regulatory      5608..5613
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
                     /note="hexamer: AATAAA"
     polyA_site      5630
                     /gene="CACNG2"
                     /gene_synonym="MRD10"
ORIGIN      
        1 atctctagct acgccttcct ctaagctccg ggagcccagg agagcgctca ttttaggatt
       61 tgggagaggg gtaaaaagag gaaaggcggc ccccgctctg cgctggcctt gctgccccgg
      121 ggagggagga ctctggccag cgcccccctc ctggcgggcg gccctgggag ccagccgggg
      181 agcgcgcgga gcgggcggcg cagggagctg tccggttcag caccacccgt aatgcagtag
      241 gtgggagcgc ctccgcgggc gcccagccgg tagcgagtgg ggggcaggcg cgcggcccac
      301 cctgcagcaa gacgccggct ccctcgtttc caggagcttt gcagataggg ggagggaaat
      361 ccgcctcgat tctccaggag aaaccccctc tctcccccac ttcgccaaca ctacccccgc
      421 caccaacaac aataaccgcc gccgctgctc gtcctgctgc cgccgccgcc gccgcgcctg
      481 cccgccctgc cgccgccgcc gccgccgccg ccgctgcccg ggcaaaacca tggaaagcga
      541 gacccccgca cctgtgcagc tgagctcaag ggcttacaga atactgggaa gtctggtctg
      601 aaacgaaagc gccgagaccc cccaaggaag agaactggcg aagcaaagga ttttcatggc
      661 gcaggccgca gagccgagaa cgaagaccga aggttgcatc tcggctctca cagtctctaa
      721 ctgtctaggt cccgaccatg agaaatggtg ttgagaattc ggctgttccc tggttcactg
      781 tggaagccat ctccaaatta actatcacat atggaaactg gagaccagaa ttttagaaaa
      841 agagattaag gcatctcact tgggggggtg gggggtgtct ttttattttt tttttccttt
      901 tctttttaaa aaaaaaacac tgcaactgga acagtttctg atctcaaaag gcaagcctct
      961 tcccgtgtga tctttataat ttacactctt ttccgtgagc tttcttacct cccttttttt
     1021 ataactctcc atattctcta ttcatacata tatccattat attagtagtg gaataatttt
     1081 tatttttatt tatttttttt ggctttagta cttgcaccct cacacacact ctcccgagaa
     1141 ccagaagtcg gttgggtgtt tatataatga agaattatgg ggctgtttga tcgaggtgtt
     1201 caaatgcttt taaccaccgt tggtgctttc gctgccttca gcctgatgac catagctgtg
     1261 ggaaccgact attggctcta ctccagaggg gtttgcaaga ccaaaagtgt cagtgagaat
     1321 gaaaccagca aaaagaacga ggaagttatg acccattccg gattatggag aacctgctgc
     1381 ctagaaggga atttcaaagg tctgtgcaag caaattgatc acttcccaga ggatgcagat
     1441 tacgaagctg acacagcaga atatttcctc cgggccgtga gggcctccag cattttccca
     1501 atcctgagtg tgattctgct tttcatgggt ggcctctgca tcgcagccag cgagttctac
     1561 aaaactcgac acaacatcat cctgagtgcc ggcatcttct tcgtgtctgc aggtctgagt
     1621 aacatcattg gcatcatagt gtacatatct gccaatgccg gagacccctc caagagcgac
     1681 tccaaaaaga atagttactc atacggctgg tccttctact tcggggccct gtccttcatc
     1741 atcgccgaga tggtcggggt gctggcggtg cacatgttta tcgaccggca caaacagctg
     1801 cgggccacgg cccgcgccac ggactacctc caggcctctg ccatcacccg catccccagc
     1861 taccgctacc gctaccagcg ccgcagccgc tccagctcgc gctccacgga gccctcacac
     1921 tccagggacg cctcccccgt gggcatcaag ggcttcaaca ccctgccgtc cacggagatc
     1981 tccatgtaca cgctcagcag ggaccccctg aaggccgcca ccacgcccac cgccacctac
     2041 aactccgaca gggataacag cttcctccag gttcacaact gtatccagaa ggagaacaag
     2101 gactctctcc actccaacac agccaaccgc cggaccaccc ccgtataaag accgcgggcc
     2161 tcgccagaag accgcgggag gagggcgcgg tccccggggg cggggcgggg cggggagacc
     2221 cagaccctcc gctgggagac cttccaaaag caaaaacaaa aaacaaaaaa aacaaaaaaa
     2281 caaaaaacaa aaaaacacac acacacaaaa aaagagaaaa aacataacaa gtaaatttta
     2341 aaaaaaagaa caaaatataa gaggaacaaa gaagcaaaac aacaggaaat gtgggaaaat
     2401 ataaacgagg gaagaaaaca aactttaaaa aaaagcgaga gggataaaaa attaaaaata
     2461 gaaaataaat ctaaaagaaa atgcatgatt tcccatgtac cattatttta acatttaata
     2521 aaaatcaatt taaatgaaaa aataaaaggg aaccaagata acattaaagc aaaaaaaaaa
     2581 aaaatgagaa cagaaaggaa aggggatgtc ctttgtattt ttcagggttt atgttacttt
     2641 tttttttttt ttttaactcg gggagagtta cttttctgtt ccctttaacc cccagcgggc
     2701 cctgcctccc tgggagattg gggggcgaga ctcaggggcc ctggggccag gtgagcctgc
     2761 agtcactgcc aggtccctgg agcccctggg tgggtgcccc aggaactcca ggaaggctca
     2821 gagctcgagc cggctccgcc cagcattgat ggggcaatcg taggcctcca ggtgaccgag
     2881 cccttgtccc tcctctccgt tagggtgcct ggaggggggt acacttgggg cttgcctggc
     2941 cccaggttcc cagtccttaa tgctccttaa cccactgtga tgacttccta ggccttgagg
     3001 aaagggaagg agaggggagg ctgccggtgg cttaccaaga tgccggaaac cccggaatcc
     3061 tcagggtgag cctcttgggg tcatgtcccc aagctcctgt ccttggggtc aggagatgcc
     3121 accccccccc ccgggggaca tgaaacagct ctccctcctc acccctcacc tcagggccac
     3181 ctgatgaccc tggggcgatg gtggaccccc tgactcataa gccccccagt cccctgggaa
     3241 gggggttcat tgaccctttg ggggtccttg gactcactga tgcccccttg gggcccagcg
     3301 ggttcaacaa tgacactgca aaaaggcttc tttttacaaa agaaaaagga aaaacaagtg
     3361 gtgatttttt tttaataaaa aaaccacaga ctataaataa atgtaaatac aaaataagtg
     3421 gatttacttg caagaaaatc agatagtatt tttcttttaa ttcttttcca gctttaaact
     3481 gtgaaaacaa aaaatggggc ggggtggggg acttaaactt tagcagggaa cttgtaaaga
     3541 aaaaaaaaac agaaaacgaa tatacaaatc catttacaaa aacaaagcaa aaccgttgtg
     3601 agaggtgaga gctgggcttg aaggttggag ggagtagcgg aaggtcccag tgagctgcag
     3661 ggggtctctg tgatggaaag gtggcttcct cagacaagga aggtgctgcg aatgggggaa
     3721 gacagaatcc aacaaagaaa gagaccacac accccacacg cacacaggca cgttcacaca
     3781 cacatacaca gtccacttag cccagcactg cagtcactca cagggacaca ctcagtctca
     3841 acccttccat cccatacacg gccaggggcg tggctcaaag gaaattgact catgccctcc
     3901 aaagccatgg acgacaacaa ctccacactg gcctttgtgt tcattcacaa cctcccaaca
     3961 gagcatacac atgaacacac acatgcacac atacccacac acgcacacat acccacacac
     4021 acacacacac cactcgcatg catgggaagg gcacccgtct agaatccagg actggattcc
     4081 ggaattcctt gctgcatggc ctctctgggc cttaattttc cccccatgta agcatgtgga
     4141 ttgacccaga gaagcactaa aggcccattc ttgctctatg tatctgtgac ttaagatctg
     4201 ccacctgccc cgaggatatg ccagggatga ccaggacagc tgccaccaag cccccaggct
     4261 catcatcagt cagcctctca gacacacaca cacacacaca ccatatacct cctcactgtg
     4321 ctccccgaac acctgccccc acatccaatg tcaaagcaaa aatacacaca tgtgagcaaa
     4381 cataaagctg ttcaggcaaa gaggggaaag acgcaggggt ccccaaagcc cttcttcact
     4441 ttgtgtcccc ttgctgcgat catggagagt taaagaggct tccttgggag aagagctctg
     4501 ccaccagggc ttccccagtg tctttggggg tctgtgaaaa agaggatcct ctgaggttta
     4561 ctgggagggc tcaaggctga gggaatggag aggaaaattt tagcagttcc atcccagtgt
     4621 aaggaccaac cccaaaagtt aaacttgcac cacagactaa aggtcaaggg catcctgtgt
     4681 ttctcccctt tcttccccag agtgacaagg gccagttcag actgacagaa atccaacagc
     4741 tttcctgagc tggaaatttc agaacagtct gcaagttact cccaggtgac tgaaggtcaa
     4801 ggtgaggccc ccctgcctct gcctgcgagt ctcccccggt ttgcattttt cttgacaccg
     4861 gcatttcctg aggttgagct ctctggggag ttctagagaa tggctagtaa ggctttttga
     4921 gcttgcacat ctcacctgcc tttcctgtct tttgcctggg aaaggaaagt tattttccca
     4981 ggtcagcaag gggcagaaca tcggccagcc cagcccagaa gtacaggggg aggtcatggg
     5041 ccctggggca gaacaatggg agacaattca aggtgtggta acaacaacca agttgccctc
     5101 agtctgggca gaaactgaac tctacccctc tcccacccca atcttgcccg ccatcccacc
     5161 agattccaga cctaaaggga tcaaggatga gagcgaaggg agaagggagg gtccccaaga
     5221 aaaccgcacc caagcgagca ctgtctgaag agaaaaacta gctccagttc tccgaattct
     5281 ggcagagcgt ctgggaaggc gatcagtgct tctttccatg gcgcaaggcc tgggttctgg
     5341 gtgtgcttga agaaagccac tggggtgtgg ggtgacatcg ccatggctga gaaggggcta
     5401 gggggtccgg agggaaggag ccaggaccgg aactgcaagg gcgttgctgc ccaggggtgt
     5461 ggatgattgc tcatgtccag ctcagaccag ttcaagaaac taacctccat ttattttctt
     5521 ggtgagtcct tttttttttt ttcagactgt taacagaaaa aaaattttaa aaagcagaaa
     5581 actgaaaaaa aaaatcctgg tacatgaaat aaagattttt tttttttata gcttggtcct
     5641 ca
//
