GGRNA Home | Help | Advanced search

2024-03-28 20:08:03, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_145811                926 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens calcium channel, voltage-dependent, gamma subunit 5
            (CACNG5), mRNA.
ACCESSION   NM_145811
VERSION     NM_145811.2  GI:313661578
KEYWORDS    RefSeq.
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 926)
  AUTHORS   Curtis,D., Vine,A.E., McQuillin,A., Bass,N.J., Pereira,A.,
            Kandaswamy,R., Lawrence,J., Anjorin,A., Choudhury,K., Datta,S.R.,
            Puri,V., Krasucki,R., Pimm,J., Thirumalai,S., Quested,D. and
            Gurling,H.M.
  TITLE     Case-case genome-wide association analysis shows markers
            differentially associated with schizophrenia and bipolar disorder
            and implicates calcium channel genes
  JOURNAL   Psychiatr. Genet. 21 (1), 1-4 (2011)
   PUBMED   21057379
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   2  (bases 1 to 926)
  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   3  (bases 1 to 926)
  AUTHORS   Moss,F.J., Viard,P., Davies,A., Bertaso,F., Page,K.M., Graham,A.,
            Canti,C., Plumpton,M., Plumpton,C., Clare,J.J. and Dolphin,A.C.
  TITLE     The novel product of a five-exon stargazin-related gene abolishes
            Ca(V)2.2 calcium channel expression
  JOURNAL   EMBO J. 21 (7), 1514-1523 (2002)
   PUBMED   11927536
REFERENCE   4  (bases 1 to 926)
  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   5  (bases 1 to 926)
  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   6  (bases 1 to 926)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC101633.1.
            On Dec 7, 2010 this sequence version replaced gi:22027550.
            
            Summary: The protein encoded by this gene is a type II
            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 and is located in a cluster
            with two family members, a type I TARP and a calcium channel gamma
            subunit. This gene is a susceptibility locus for schizophrenia and
            bipolar disorder. [provided by RefSeq, Dec 2010].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC101633.1, AF361351.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025082, ERS025084 [ECO:0000350]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-926               BC101633.1         1-926
FEATURES             Location/Qualifiers
     source          1..926
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24"
     gene            1..926
                     /gene="CACNG5"
                     /note="calcium channel, voltage-dependent, gamma subunit
                     5"
                     /db_xref="GeneID:27091"
                     /db_xref="HGNC:1409"
                     /db_xref="MIM:606405"
     STS             1..926
                     /gene="CACNG5"
                     /db_xref="UniSTS:483187"
     exon            1..256
                     /gene="CACNG5"
                     /inference="alignment:Splign:1.39.8"
     variation       12
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189220145"
     variation       26
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371856563"
     variation       30
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143212476"
     variation       32
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375463562"
     variation       49
                     /gene="CACNG5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:199942223"
     CDS             61..888
                     /gene="CACNG5"
                     /note="neuronal voltage-gated calcium channel gamma-5
                     subunit; TARP gamma-5; transmembrane AMPAR regulatory
                     protein gamma-5"
                     /codon_start=1
                     /product="voltage-dependent calcium channel gamma-5
                     subunit"
                     /protein_id="NP_665810.1"
                     /db_xref="GI:22027551"
                     /db_xref="CCDS:CCDS11665.1"
                     /db_xref="GeneID:27091"
                     /db_xref="HGNC:1409"
                     /db_xref="MIM:606405"
                     /translation="
MSACGRKALTLLSSVFAVCGLGLLGIAVSTDYWLYLEEGVIVPQNQSTEIKMSLHSGLWRVCFLAGEERGRCFTIEYVMPMNTQLTSESTVNVLKMIRSATPFPLVSLFFMFIGFILNNIGHIRPHRTILAFVSGIFFILSGLSLVVGLVLYISSINDEMLNRTKDAETYFNYKYGWSFAFAAISFLLTESAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQFLHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSSSPC
"
     misc_feature    82..144
                     /gene="CACNG5"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UF02.2);
                     transmembrane region"
     misc_feature    112..654
                     /gene="CACNG5"
                     /note="PMP-22/EMP/MP20/Claudin tight junction; Region:
                     Claudin_2; pfam13903"
                     /db_xref="CDD:206074"
     misc_feature    367..429
                     /gene="CACNG5"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UF02.2);
                     transmembrane region"
     misc_feature    445..507
                     /gene="CACNG5"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UF02.2);
                     transmembrane region"
     misc_feature    586..648
                     /gene="CACNG5"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UF02.2);
                     transmembrane region"
     variation       72
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138908277"
     variation       73
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149430161"
     variation       81
                     /gene="CACNG5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:180896668"
     variation       110
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147124881"
     variation       117
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146874664"
     variation       123
                     /gene="CACNG5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:78444633"
     variation       126
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143372369"
     variation       141
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:71379998"
     variation       151
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186020432"
     variation       162
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11652480"
     variation       178
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369495372"
     variation       207
                     /gene="CACNG5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:372742824"
     variation       238
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141219015"
     variation       241
                     /gene="CACNG5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:150770823"
     variation       249
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142311207"
     exon            257..343
                     /gene="CACNG5"
                     /inference="alignment:Splign:1.39.8"
     variation       265
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201854089"
     variation       321
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:117599246"
     variation       322
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377716365"
     variation       330
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144101002"
     variation       335
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146501310"
     exon            344..484
                     /gene="CACNG5"
                     /inference="alignment:Splign:1.39.8"
     variation       352
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201075450"
     variation       353
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138881080"
     variation       359
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144185092"
     variation       374
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:111413662"
     variation       390
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201193956"
     variation       420
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368963780"
     variation       421
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201783473"
     variation       431
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145214481"
     variation       439
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376464596"
     variation       440
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142916987"
     variation       443
                     /gene="CACNG5"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149159754"
     variation       478
                     /gene="CACNG5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200151881"
     exon            485..630
                     /gene="CACNG5"
                     /inference="alignment:Splign:1.39.8"
     variation       511
                     /gene="CACNG5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201816822"
     variation       526
                     /gene="CACNG5"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:143315434"
     variation       532
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372953328"
     variation       559
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151297907"
     variation       582
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376431191"
     variation       585
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141709912"
     variation       592
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370362411"
     variation       604
                     /gene="CACNG5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:187075595"
     variation       607
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147089270"
     exon            631..926
                     /gene="CACNG5"
                     /inference="alignment:Splign:1.39.8"
     variation       636
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150614966"
     variation       637
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200209024"
     variation       654
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139714730"
     variation       667
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142426129"
     variation       677
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149774604"
     variation       679
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145737408"
     variation       685
                     /gene="CACNG5"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201800034"
     variation       712
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141669982"
     variation       713
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145536558"
     variation       757
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:41280112"
     variation       765
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376605267"
     variation       782
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368673542"
     variation       795
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373980014"
     variation       810
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377044985"
     variation       813
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142634808"
     variation       826
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143414497"
     variation       838
                     /gene="CACNG5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:375809079"
     variation       846
                     /gene="CACNG5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:148378368"
     variation       855
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:73335104"
     variation       872
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150302406"
     variation       898
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374049579"
     variation       901
                     /gene="CACNG5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199784553"
     variation       918
                     /gene="CACNG5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2286679"
ORIGIN      
agagcgcagtccgtgctggtgggagcgtggcgactagttgcacagcaacggtccaggaagatgagtgcctgcgggaggaaggccctgaccctgctgagcagtgtctttgctgtctgtggcttgggcctcctgggtatcgcggtcagcaccgactactggctgtacctggaggagggtgtgattgtgccccagaaccagagcaccgagatcaagatgtccctgcactcaggcctctggcgggtctgcttccttgcaggtgaggagcgggggcgttgcttcaccatagaatatgtgatgcccatgaacacccagctgacatccgagtccacggtcaatgttctaaagatgatccgctcagccacaccattccctctggtcagcctcttcttcatgttcattgggtttatcctgaacaacatcggacacatccgtccccaccggacgatactggcctttgtctctggcatcttctttatcctctcaggcctctctctcgtggtgggcctggtgctctacatctccagcatcaacgatgagatgctcaacaggaccaaggatgcagagacctacttcaactacaagtatgggtggtcgtttgccttcgccgccatctccttccttttaacggagagtgccggggtgatgtctgtgtacctgtttatgaagcggtacaccgcggaggacatgtacaggccccaccctggcttctaccgccctcggctgagcaactgctccgattactcaggccagttcctacacccagacgcctgggtcaggggccgcagcccctccgacatctccagcgaggcctccctgcagatgaacagcaactaccccgccttgctcaagtgccccgactatgatcagatgtcctcttcaccctgctgagcctcggccgcccccatccctggactgtgggtggccag
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:27091 -> Molecular function: GO:0005245 [voltage-gated calcium channel activity] evidence: TAS
            GeneID:27091 -> Molecular function: GO:0015075 [ion transmembrane transporter activity] evidence: TAS
            GeneID:27091 -> Biological process: GO:0006810 [transport] evidence: TAS
            GeneID:27091 -> Biological process: GO:2000311 [regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity] evidence: ISS
            GeneID:27091 -> Cellular component: GO:0014069 [postsynaptic density] evidence: ISS
            GeneID:27091 -> Cellular component: GO:0030054 [cell junction] evidence: IEA
            GeneID:27091 -> Cellular component: GO:0032281 [alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex] evidence: ISS
            GeneID:27091 -> Cellular component: GO:0045211 [postsynaptic membrane] evidence: IEA

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.