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2024-04-20 13:56:21, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006078 4523 bp mRNA linear PRI 12-MAY-2013
DEFINITION Homo sapiens calcium channel, voltage-dependent, gamma subunit 2
(CACNG2), mRNA.
ACCESSION NM_006078 XR_017893
VERSION NM_006078.3 GI:313482781
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 4523)
AUTHORS Semenov,A., Moykkynen,T., Coleman,S.K., Korpi,E.R. and Keinanen,K.
TITLE Autoinactivation of the stargazin-AMPA receptor complex:
subunit-dependency and independence from physical dissociation
JOURNAL PLoS ONE 7 (11), E49282 (2012)
PUBMED 23166629
REMARK GeneRIF: Autoinactivation is a subunit and splice form dependent
property of AMPA receptor-stargazin complexes, which involves
structural rearrangements within the complex rather than any
physical dissociation.
REFERENCE 2 (bases 1 to 4523)
AUTHORS Nissenbaum,J., Devor,M., Seltzer,Z., Gebauer,M., Michaelis,M.,
Tal,M., Dorfman,R., Abitbul-Yarkoni,M., Lu,Y., Elahipanah,T.,
delCanho,S., Minert,A., Fried,K., Persson,A.K., Shpigler,H.,
Shabo,E., Yakir,B., Pisante,A. and Darvasi,A.
TITLE Susceptibility to chronic pain following nerve injury is
genetically affected by CACNG2
JOURNAL Genome Res. 20 (9), 1180-1190 (2010)
PUBMED 20688780
REMARK GeneRIF: Susceptibility to chronic pain following nerve injury is
genetically affected by CACNG2
REFERENCE 3 (bases 1 to 4523)
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 4523)
AUTHORS Selvakumar,B., Huganir,R.L. and Snyder,S.H.
TITLE S-nitrosylation of stargazin regulates surface expression of
AMPA-glutamate neurotransmitter receptors
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 106 (38), 16440-16445 (2009)
PUBMED 19805317
REMARK GeneRIF: Data show that S-nitrosylation of stargazin increases
binding to the AMPAR subunit GluR1, causing increased surface
expression of the AMPAR.
REFERENCE 5 (bases 1 to 4523)
AUTHORS Kessels,H.W., Kopec,C.D., Klein,M.E. and Malinow,R.
TITLE Roles of stargazin and phosphorylation in the control of AMPA
receptor subcellular distribution
JOURNAL Nat. Neurosci. 12 (7), 888-896 (2009)
PUBMED 19543281
REMARK GeneRIF: findings show stargazin demonstrates differential control
of AMPA receptor subunit stability
REFERENCE 6 (bases 1 to 4523)
AUTHORS Choi,J., Ko,J., Park,E., Lee,J.R., Yoon,J., Lim,S. and Kim,E.
TITLE Phosphorylation of stargazin by protein kinase A regulates its
interaction with PSD-95
JOURNAL J. Biol. Chem. 277 (14), 12359-12363 (2002)
PUBMED 11805122
REFERENCE 7 (bases 1 to 4523)
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 8 (bases 1 to 4523)
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 9 (bases 1 to 4523)
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 10 (bases 1 to 4523)
AUTHORS Black,J.L. III 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 BC069612.1 and AL022313.1.
This sequence is a reference standard in the RefSeqGene project.
On Dec 3, 2010 this sequence version replaced gi:22027543.
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
schizophrenia. [provided by RefSeq, Dec 2010].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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 :: BC069612.1, BC112297.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1079 BC069612.1 1-1079
1080-4523 AL022313.1 113167-116610 c
FEATURES Location/Qualifiers
source 1..4523
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q13.1"
gene 1..4523
/gene="CACNG2"
/gene_synonym="MRD10"
/note="calcium channel, voltage-dependent, gamma subunit
2"
/db_xref="GeneID:10369"
/db_xref="HGNC:1406"
/db_xref="HPRD:04220"
/db_xref="MIM:602911"
STS 1..1091
/gene="CACNG2"
/gene_synonym="MRD10"
/db_xref="UniSTS:480746"
exon 1..280
/gene="CACNG2"
/gene_synonym="MRD10"
/inference="alignment:Splign:1.39.8"
STS 10..1142
/gene="CACNG2"
/gene_synonym="MRD10"
/db_xref="UniSTS:489640"
STS 35..1076
/gene="CACNG2"
/gene_synonym="MRD10"
/db_xref="UniSTS:482038"
misc_feature 61..63
/gene="CACNG2"
/gene_synonym="MRD10"
/note="upstream in-frame stop codon"
CDS 70..1041
/gene="CACNG2"
/gene_synonym="MRD10"
/note="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"
/protein_id="NP_006069.1"
/db_xref="GI:5174405"
/db_xref="CCDS:CCDS13931.1"
/db_xref="GeneID:10369"
/db_xref="HGNC:1406"
/db_xref="HPRD:04220"
/db_xref="MIM:602911"
/translation="
MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTHSGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGLCIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISANAGDPSKSDSKKNSYSYGWSFYFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSSSRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVHNCIQKENKDSLHSNTANRRTTPV
" misc_feature 85..660 /gene="CACNG2" /gene_synonym="MRD10" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; pfam00822" /db_xref="CDD:216137" misc_feature 97..159 /gene="CACNG2" /gene_synonym="MRD10" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9Y698.1); transmembrane region" misc_feature 379..441 /gene="CACNG2" /gene_synonym="MRD10" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9Y698.1); transmembrane region" misc_feature 469..531 /gene="CACNG2" /gene_synonym="MRD10" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9Y698.1); transmembrane region" misc_feature 613..675 /gene="CACNG2" /gene_synonym="MRD10" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9Y698.1); transmembrane region" misc_feature 1030..1032 /gene="CACNG2" /gene_synonym="MRD10" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /citation=[6] /db_xref="HPRD:03382" exon 281..364 /gene="CACNG2" /gene_synonym="MRD10" /inference="alignment:Splign:1.39.8" exon 365..505 /gene="CACNG2" /gene_synonym="MRD10" /inference="alignment:Splign:1.39.8" exon 506..4523 /gene="CACNG2" /gene_synonym="MRD10" /inference="alignment:Splign:1.39.8" variation 816 /gene="CACNG2" /gene_synonym="MRD10" /replace="a" /replace="c" /db_xref="dbSNP:1065089" polyA_signal 4501..4506 /gene="CACNG2" /gene_synonym="MRD10" polyA_site 4523 /gene="CACNG2" /gene_synonym="MRD10" ORIGIN
gtacttgcaccctcacacacactctcccgagaaccagaagtcggttgggtgtttatataatgaagaattatggggctgtttgatcgaggtgttcaaatgcttttaaccaccgttggtgctttcgctgccttcagcctgatgaccatagctgtgggaaccgactattggctctactccagaggggtttgcaagaccaaaagtgtcagtgagaatgaaaccagcaaaaagaacgaggaagttatgacccattccggattatggagaacctgctgcctagaagggaatttcaaaggtctgtgcaagcaaattgatcacttcccagaggatgcagattacgaagctgacacagcagaatatttcctccgggccgtgagggcctccagcattttcccaatcctgagtgtgattctgcttttcatgggtggcctctgcatcgcagccagcgagttctacaaaactcgacacaacatcatcctgagtgccggcatcttcttcgtgtctgcaggtctgagtaacatcattggcatcatagtgtacatatctgccaatgccggagacccctccaagagcgactccaaaaagaatagttactcatacggctggtccttctacttcggggccctgtccttcatcatcgccgagatggtcggggtgctggcggtgcacatgtttatcgaccggcacaaacagctgcgggccacggcccgcgccacggactacctccaggcctctgccatcacccgcatccccagctaccgctaccgctaccagcgccgcagccgctccagctcgcgctccacggagccctcacactccagggacgcctcccccgtgggcatcaagggcttcaacaccctgccgtccacggagatctccatgtacacgctcagcagggaccccctgaaggccgccaccacgcccaccgccacctacaactccgacagggataacagcttcctccaggttcacaactgtatccagaaggagaacaaggactctctccactccaacacagccaaccgccggaccacccccgtataaagaccgcgggcctcgccagaagaccgcgggaggagggcgcggtccccgggggcggggcggggcggggagacccagaccctccgctgggagaccttccaaaagcaaaaacaaaaaacaaaaaaaacaaaaaaacaaaaaacaaaaaaacacacacacacaaaaaaagagaaaaaacataacaagtaaattttaaaaaaaagaacaaaatataagaggaacaaagaagcaaaacaacaggaaatgtgggaaaatataaacgagggaagaaaacaaactttaaaaaaaagcgagagggataaaaaattaaaaatagaaaataaatctaaaagaaaatgcatgatttcccatgtaccattattttaacatttaataaaaatcaatttaaatgaaaaaataaaagggaaccaagataacattaaagcaaaaaaaaaaaaaatgagaacagaaaggaaaggggatgtcctttgtatttttcagggtttatgttactttttttttttttttttaactcggggagagttacttttctgttccctttaacccccagcgggccctgcctccctgggagattggggggcgagactcaggggccctggggccaggtgagcctgcagtcactgccaggtccctggagcccctgggtgggtgccccaggaactccaggaaggctcagagctcgagccggctccgcccagcattgatggggcaatcgtaggcctccaggtgaccgagcccttgtccctcctctccgttagggtgcctggaggggggtacacttggggcttgcctggccccaggttcccagtccttaatgctccttaacccactgtgatgacttcctaggccttgaggaaagggaaggagaggggaggctgccggtggcttaccaagatgccggaaaccccggaatcctcagggtgagcctcttggggtcatgtccccaagctcctgtccttggggtcaggagatgccacccccccccccgggggacatgaaacagctctccctcctcacccctcacctcagggccacctgatgaccctggggcgatggtggaccccctgactcataagccccccagtcccctgggaagggggttcattgaccctttgggggtccttggactcactgatgcccccttggggcccagcgggttcaacaatgacactgcaaaaaggcttctttttacaaaagaaaaaggaaaaacaagtggtgatttttttttaataaaaaaaccacagactataaataaatgtaaatacaaaataagtggatttacttgcaagaaaatcagatagtatttttcttttaattcttttccagctttaaactgtgaaaacaaaaaatggggcggggtgggggacttaaactttagcagggaacttgtaaagaaaaaaaaaacagaaaacgaatatacaaatccatttacaaaaacaaagcaaaaccgttgtgagaggtgagagctgggcttgaaggttggagggagtagcggaaggtcccagtgagctgcagggggtctctgtgatggaaaggtggcttcctcagacaaggaaggtgctgcgaatgggggaagacagaatccaacaaagaaagagaccacacaccccacacgcacacaggcacgttcacacacacatacacagtccacttagcccagcactgcagtcactcacagggacacactcagtctcaacccttccatcccatacacggccaggggcgtggctcaaaggaaattgactcatgccctccaaagccatggacgacaacaactccacactggcctttgtgttcattcacaacctcccaacagagcatacacatgaacacacacatgcacacatacccacacacgcacacatacccacacacacacacacaccactcgcatgcatgggaagggcacccgtctagaatccaggactggattccggaattccttgctgcatggcctctctgggccttaattttccccccatgtaagcatgtggattgacccagagaagcactaaaggcccattcttgctctatgtatctgtgacttaagatctgccacctgccccgaggatatgccagggatgaccaggacagctgccaccaagcccccaggctcatcatcagtcagcctctcagacacacacacacacacacaccatatacctcctcactgtgctccccgaacacctgcccccacatccaatgtcaaagcaaaaatacacacatgtgagcaaacataaagctgttcaggcaaagaggggaaagacgcaggggtccccaaagcccttcttcactttgtgtccccttgctgcgatcatggagagttaaagaggcttccttgggagaagagctctgccaccagggcttccccagtgtctttgggggtctgtgaaaaagaggatcctctgaggtttactgggagggctcaaggctgagggaatggagaggaaaattttagcagttccatcccagtgtaaggaccaaccccaaaagttaaacttgcaccacagactaaaggtcaagggcatcctgtgtttctcccctttcttccccagagtgacaagggccagttcagactgacagaaatccaacagctttcctgagctggaaatttcagaacagtctgcaagttactcccaggtgactgaaggtcaaggtgaggcccccctgcctctgcctgcgagtctcccccggtttgcatttttcttgacaccggcatttcctgaggttgagctctctggggagttctagagaatggctagtaaggctttttgagcttgcacatctcacctgcctttcctgtcttttgcctgggaaaggaaagttattttcccaggtcagcaaggggcagaacatcggccagcccagcccagaagtacagggggaggtcatgggccctggggcagaacaatgggagacaattcaaggtgtggtaacaacaaccaagttgccctcagtctgggcagaaactgaactctacccctctcccaccccaatcttgcccgccatcccaccagattccagacctaaagggatcaaggatgagagcgaagggagaagggagggtccccaagaaaaccgcacccaagcgagcactgtctgaagagaaaaactagctccagttctccgaattctggcagagcgtctgggaaggcgatcagtgcttctttccatggcgcaaggcctgggttctgggtgtgcttgaagaaagccactggggtgtggggtgacatcgccatggctgagaaggggctagggggtccggagggaaggagccaggaccggaactgcaagggcgttgctgcccaggggtgtggatgattgctcatgtccagctcagaccagttcaagaaactaacctccatttattttcttggtgagtcctttttttttttttcagactgttaacagaaaaaaaattttaaaaagcagaaaactgaaaaaaaaaatcctggtacatgaaataaagattttttttttttata
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10369 -> Molecular function: GO:0005245 [voltage-gated calcium channel activity] evidence: IEA
GeneID:10369 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:10369 -> Molecular function: GO:0035255 [ionotropic glutamate receptor binding] evidence: IEA
GeneID:10369 -> Biological process: GO:0006810 [transport] evidence: TAS
GeneID:10369 -> Biological process: GO:0007268 [synaptic transmission] evidence: TAS
GeneID:10369 -> Biological process: GO:0007528 [neuromuscular junction development] evidence: IEA
GeneID:10369 -> Biological process: GO:0051899 [membrane depolarization] evidence: TAS
GeneID:10369 -> Biological process: GO:0060081 [membrane hyperpolarization] evidence: IEA
GeneID:10369 -> Biological process: GO:2000311 [regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity] evidence: ISS
GeneID:10369 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:10369 -> Cellular component: GO:0005891 [voltage-gated calcium channel complex] evidence: IEA
GeneID:10369 -> Cellular component: GO:0030666 [endocytic vesicle membrane] evidence: TAS
GeneID:10369 -> Cellular component: GO:0032281 [alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex] evidence: ISS
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