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2024-04-20 13:06:22, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006539 2710 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens calcium channel, voltage-dependent, gamma subunit 3
(CACNG3), mRNA.
ACCESSION NM_006539
VERSION NM_006539.3 GI:313482864
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 2710)
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 2 (bases 1 to 2710)
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 3 (bases 1 to 2710)
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 4 (bases 1 to 2710)
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 5 (bases 1 to 2710)
AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
Dunham,I., Hill,D.E. and Vidal,M.
TITLE hORFeome v3.1: a resource of human open reading frames representing
over 10,000 human genes
JOURNAL Genomics 89 (3), 307-315 (2007)
PUBMED 17207965
REFERENCE 6 (bases 1 to 2710)
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 2710)
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 2710)
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 2710)
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 2710)
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 BC037899.1, AC004125.1 and
H04803.1.
On Dec 3, 2010 this sequence version replaced gi:22027545.
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].
##Evidence-Data-START##
Transcript exon combination :: BC037899.1, AK095553.1 [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
1-100 BC037899.1 6-105
101-101 AC004125.1 10552-10552
102-435 BC037899.1 107-440
436-436 AC004125.1 10887-10887
437-2695 BC037899.1 442-2700
2696-2710 H04803.1 2-16 c
FEATURES Location/Qualifiers
source 1..2710
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p12.1"
gene 1..2710
/gene="CACNG3"
/note="calcium channel, voltage-dependent, gamma subunit
3"
/db_xref="GeneID:10368"
/db_xref="HGNC:1407"
/db_xref="HPRD:05910"
/db_xref="MIM:606403"
exon 1..1413
/gene="CACNG3"
/inference="alignment:Splign:1.39.8"
variation 2
/gene="CACNG3"
/replace="a"
/replace="c"
/db_xref="dbSNP:78772635"
variation 12
/gene="CACNG3"
/replace="a"
/replace="g"
/db_xref="dbSNP:16973461"
variation 28
/gene="CACNG3"
/replace="c"
/replace="g"
/db_xref="dbSNP:150822254"
variation 75
/gene="CACNG3"
/replace="g"
/replace="t"
/db_xref="dbSNP:138418408"
variation 192
/gene="CACNG3"
/replace="c"
/replace="t"
/db_xref="dbSNP:185915130"
variation 206
/gene="CACNG3"
/replace="a"
/replace="g"
/db_xref="dbSNP:143905141"
variation 348
/gene="CACNG3"
/replace="c"
/replace="g"
/db_xref="dbSNP:116450476"
variation 359
/gene="CACNG3"
/replace="a"
/replace="g"
/db_xref="dbSNP:147303074"
variation 381
/gene="CACNG3"
/replace="c"
/replace="g"
/db_xref="dbSNP:374896764"
variation 436
/gene="CACNG3"
/replace="a"
/replace="c"
/db_xref="dbSNP:11646957"
variation 538
/gene="CACNG3"
/replace="c"
/replace="t"
/db_xref="dbSNP:7186210"
variation 603
/gene="CACNG3"
/replace=""
/replace="t"
/db_xref="dbSNP:138438483"
variation 653
/gene="CACNG3"
/replace="c"
/replace="t"
/db_xref="dbSNP:372369248"
STS 665..826
/gene="CACNG3"
/standard_name="URB036"
/db_xref="UniSTS:250803"
variation 766..767
/gene="CACNG3"
/replace=""
/replace="ca"
/db_xref="dbSNP:5816246"
variation 785..786
/gene="CACNG3"
/replace=""
/replace="ac"
/db_xref="dbSNP:3060116"
variation 830
/gene="CACNG3"
/replace="a"
/replace="g"
/db_xref="dbSNP:116166933"
variation 892
/gene="CACNG3"
/replace="c"
/replace="g"
/db_xref="dbSNP:373928384"
variation 979
/gene="CACNG3"
/replace="c"
/replace="t"
/db_xref="dbSNP:140890083"
variation 982..983
/gene="CACNG3"
/replace=""
/replace="cc"
/db_xref="dbSNP:34370555"
variation 983
/gene="CACNG3"
/replace="c"
/replace="g"
/db_xref="dbSNP:149431324"
variation 1093
/gene="CACNG3"
/replace="a"
/replace="t"
/db_xref="dbSNP:368009855"
variation 1156
/gene="CACNG3"
/replace="g"
/replace="t"
/db_xref="dbSNP:368874081"
variation 1160
/gene="CACNG3"
/replace="c"
/replace="t"
/db_xref="dbSNP:371728578"
misc_feature 1194..1196
/gene="CACNG3"
/note="upstream in-frame stop codon"
CDS 1203..2150
/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"
/codon_start=1
/product="voltage-dependent calcium channel gamma-3
subunit"
/protein_id="NP_006530.1"
/db_xref="GI:5729756"
/db_xref="CCDS:CCDS10620.1"
/db_xref="GeneID:10368"
/db_xref="HGNC:1407"
/db_xref="HPRD:05910"
/db_xref="MIM:606403"
/translation="
MRMCDRGIQMLITTVGAFAAFSLMTIAVGTDYWLYSRGVCRTKSTSDNETSRKNEEVMTHSGLWRTCCLEGAFRGVCKKIDHFPEDADYEQDTAEYLLRAVRASSVFPILSVTLLFFGGLCVAASEFHRSRHNVILSAGIFFVSAGLSNIIGIIVYISANAGDPGQRDSKKSYSYGWSFYFGAFSFIIAEIVGVVAVHIYIEKHQQLRAKSHSEFLKKSTFARLPPYRYRFRRRSSSRSTEPRSRDLSPISKGFHTIPSTDISMFTLSRDPSKITMGTLLNSDRDHAFLQFHNSTPKEFKESLHNNPANRRTTPV
" misc_feature 1218..1790 /gene="CACNG3" /note="PMP-22/EMP/MP20/Claudin family; Region: PMP22_Claudin; pfam00822" /db_xref="CDD:109862" misc_feature 1224..1286 /gene="CACNG3" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O60359.1); transmembrane region" misc_feature 1512..1574 /gene="CACNG3" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O60359.1); transmembrane region" misc_feature 1605..1667 /gene="CACNG3" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O60359.1); transmembrane region" misc_feature 1743..1805 /gene="CACNG3" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (O60359.1); transmembrane region" variation 1342 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:147926451" STS 1391..1454 /gene="CACNG3" /standard_name="Cacng3" /db_xref="UniSTS:495980" variation 1391 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:140223850" variation 1400 /gene="CACNG3" /replace="c" /replace="g" /db_xref="dbSNP:145675691" exon 1414..1497 /gene="CACNG3" /inference="alignment:Splign:1.39.8" variation 1423 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:375344869" variation 1427 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:140855664" variation 1428 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:150135113" variation 1434 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:111513623" variation 1469 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:368528326" variation 1497 /gene="CACNG3" /replace="a" /replace="c" /db_xref="dbSNP:200755015" exon 1498..1638 /gene="CACNG3" /inference="alignment:Splign:1.39.8" variation 1566 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:199880368" variation 1601 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:147734423" variation 1613 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:376566755" exon 1639..2703 /gene="CACNG3" /inference="alignment:Splign:1.39.8" variation 1683 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:140935639" variation 1685 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:371160374" variation 1702 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:150191653" variation 1739 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:200040220" variation 1745 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:201012526" variation 1790 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:201337869" variation 1922 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:192667852" variation 1952 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:148951012" variation 1961 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:369770246" variation 1973 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:144805488" variation 2069 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:201697296" variation 2123 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:12928078" variation 2144 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:201263434" variation 2148 /gene="CACNG3" /replace="a" /replace="t" /db_xref="dbSNP:183390886" variation 2169 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:111975365" variation 2174 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:368106492" variation 2187 /gene="CACNG3" /replace="c" /replace="g" /db_xref="dbSNP:371528746" variation 2354..2355 /gene="CACNG3" /replace="" /replace="t" /db_xref="dbSNP:61695823" variation 2435 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:374427047" variation 2480 /gene="CACNG3" /replace="" /replace="a" /db_xref="dbSNP:369851908" variation 2485 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:28671632" variation 2508 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:137859960" STS 2533..2657 /gene="CACNG3" /standard_name="SHGC-60568" /db_xref="UniSTS:76678" variation 2592 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:1043774" variation 2608 /gene="CACNG3" /replace="a" /replace="g" /db_xref="dbSNP:142339736" variation 2641 /gene="CACNG3" /replace="c" /replace="t" /db_xref="dbSNP:186790670" polyA_signal 2672..2677 /gene="CACNG3" polyA_site 2695 /gene="CACNG3" polyA_site 2703 /gene="CACNG3" ORIGIN
actttttgcccgcctaagcgagccatagagccgtctccagagctgccggtgcctttaagaagactcggtctttcgggtcttctttttccccaatgggctccagtggtgcccgcagcaaaaggcaaacttgcctggctcatggggtgaaagggaggattgaagaatgccgcgttgggtgggtgctgagggagcgccagagtgcgctacgggcttcgctccccttcccctttccttaacccttcctagagcggaggaaccgggtcgtgctgcagcgcccaggagccagggcgctgactgtcctcggctccagaaactttgcgcggagagtgggcttgactgggcagagccgagccggctggctgacccgggaaggaacgggggaagggcggggtgagggaagaaagaccctttagcaccccgggtttctagcccgggcggcggtgtgcagctgcatgagggagctgtcccttcggcaccacggaccttaaagcctaggcgttaagacgacggaggcggggcaacaggcggggagctgtcccttcagcaccacggaccttggcgcccccagggaaaccagccggcccccgccccaggactctgtcttttctccagtttgagcgggggtgtcgggagcaggcggagagctttcctgcgaggctgtggaagcagtgaacactcttctcagcggctcgcctcccagcagtgctattttttgccatccgccctcacccccagcacacgcgctcgcacacacacgcacgcacgcacacacacacacacacacactcacacagagacctctctgggtttctttgccttgagtctcccggggctgtgagaagccaggcgcatctcaaaccgagctggcagctccaggctccggagccatgccctgcacggaccctcgtctttaccacgctcctgaggaatgaaaggaacccagggaccctcagaaggcagcagtgatgcggaccaaccccccggagcctgcacccttccgagggccataggcgacccagggaactggagagagctccagaaaggaaatcccagctttcccaaagtccctgtggatgctgacaaaaggagacctgaatttttggaagagcctgtactaggttacccggctgcagagtgattttcccctccggcactgactctccccctccaacccccagccgtccagagtaccatgaagaattatgaggatgtgtgacagaggtatccagatgttgatcaccactgtaggagcctttgccgcttttagtttaatgaccattgcagtgggcacggactactggttatattccagaggtgtgtgcaggactaaatctacaagtgataatgaaaccagcaggaagaatgaagaagtaatgacccattcggggctgtggaggacctgctgcctagaaggggctttccgaggcgtgtgcaagaaaatcgatcacttccctgaagatgctgactacgaacaggacacagccgaatatctcctgcgagctgtgagggcctccagtgtcttccccatcctcagtgtcacgctgctgttcttcggcgggctctgcgtggcagccagtgagttccaccgcagcagacacaacgtcattctcagcgcgggcatcttttttgtctctgcagggttaagcaacatcattggcatcatagtttatatatcagccaacgccggagaccccgggcagcgtgactccaaaaaaagttactcctatggttggtccttttatttcggagccttctctttcatcatcgcagaaattgtaggagtggttgccgtgcacatctatattgaaaaacatcagcagttacgagccaaatcccactcggagttcctgaagaaatctacttttgcccgcctcccaccctacaggtatcgattccggaggcggtcaagttctcgctccaccgagcccagatcccgagacctgtcccccatcagcaaaggcttccacaccatcccttccactgacatctcgatgttcaccctctcccgggacccctcaaagatcaccatggggaccctcctcaactccgaccgggaccacgcttttctacagttccacaattccacacccaaagagttcaaagagtcactgcataataatccggccaacaggcgcaccacgcccgtctgaactgacctctgacctctgccccacgcccagcacagccttgggggaagtgtacagagatgtctctgaggttgcatggcatggtccttgtgatggtattactttttacaaagaatgaaaccaaatggactcagccctctcccacattttcccctcaccctccaagtcctaacccctccatcctctctaacttttcaagccaatcccttaatgtcattcctctctctgtgtatctgtgccagatgttttcctttcttccttctttactggaaggacctccacattcttccctccttggaagaggactttactaaaagtcacaggtggtggccaggggggatttccgaatctccatcaggcgcgctcatagttgtccccattgtctacccacacaaatcctcaggaaaccaaccaccgcccaggtggccctgagggaggcattcacctttatgtgttagaaaaacatgaccagaaatcaaagatgtcagagccccgaagcagctaatgtaataagcactcatgttattaaaggttttgccttgtcgtaaccaaccgaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10368 -> Molecular function: GO:0005245 [voltage-gated calcium channel activity] evidence: NAS
GeneID:10368 -> Biological process: GO:0006816 [calcium ion transport] evidence: NAS
GeneID:10368 -> Biological process: GO:0007268 [synaptic transmission] evidence: TAS
GeneID:10368 -> Biological process: GO:2000311 [regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity] evidence: ISS
GeneID:10368 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:10368 -> Cellular component: GO:0005891 [voltage-gated calcium channel complex] evidence: NAS
GeneID:10368 -> Cellular component: GO:0030666 [endocytic vesicle membrane] evidence: TAS
GeneID:10368 -> Cellular component: GO:0032281 [alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex] evidence: ISS
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