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2025-05-12 01:51:01, 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 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
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