2025-05-12 01:40:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_031896 2345 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA. ACCESSION NM_031896 VERSION NM_031896.4 GI:313482784 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 2345) 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 2 (bases 1 to 2345) 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 3 (bases 1 to 2345) 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 4 (bases 1 to 2345) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC113503.1 and AC008440.9. On Dec 3, 2010 this sequence version replaced gi:22027498. 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. [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. ##Evidence-Data-START## Transcript exon combination :: BC113503.1, BC069332.1 [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 1-975 BC113503.1 1-975 976-2345 AC008440.9 86710-88079 FEATURES Location/Qualifiers source 1..2345 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="19" /map="19q13.4" gene 1..2345 /gene="CACNG7" /note="calcium channel, voltage-dependent, gamma subunit 7" /db_xref="GeneID:59284" /db_xref="HGNC:13626" /db_xref="HPRD:06062" /db_xref="MIM:606899" STS 1..1016 /gene="CACNG7" /db_xref="UniSTS:483765" exon 1..291 /gene="CACNG7" /inference="alignment:Splign:1.39.8" variation 69 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:368968771" variation 72 /gene="CACNG7" /replace="c" /replace="g" /db_xref="dbSNP:112884264" variation 78 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:371463632" STS 81..973 /gene="CACNG7" /db_xref="UniSTS:480582" variation 94 /gene="CACNG7" /replace="a" /replace="g" /db_xref="dbSNP:199725346" CDS 96..923 /gene="CACNG7" /note="neuronal voltage-gated calcium channel gamma-7 subunit; TARP gamma-7; transmembrane AMPAR regulatory protein gamma-7" /codon_start=1 /product="voltage-dependent calcium channel gamma-7 subunit" /protein_id="NP_114102.2" /db_xref="GI:21361975" /db_xref="CCDS:CCDS12868.1" /db_xref="GeneID:59284" /db_xref="HGNC:13626" /db_xref="HPRD:06062" /db_xref="MIM:606899" /translation="
MSHCSSRALTLLSSVFGACGLLLVGIAVSTDYWLYMEEGTVLPQNQTTEVKMALHAGLWRVCFFAGREKGRCVASEYFLEPEINLVTENTENILKTVRTATPFPMVSLFLVFTAFVISNIGHIRPQRTILAFVSGIFFILSGLSLVVGLVLYISSINDEVMNRPSSSEQYFHYRYGWSFAFAASSFLLKEGAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQFLQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHISTSPC
" misc_feature 117..179 /gene="CACNG7" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P62955.1); transmembrane region" misc_feature 147..689 /gene="CACNG7" /note="PMP-22/EMP/MP20/Claudin tight junction; Region: Claudin_2; pfam13903" /db_xref="CDD:222446" misc_feature 402..464 /gene="CACNG7" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P62955.1); transmembrane region" misc_feature 480..542 /gene="CACNG7" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P62955.1); transmembrane region" misc_feature 630..692 /gene="CACNG7" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P62955.1); transmembrane region" variation 174 /gene="CACNG7" /replace="a" /replace="g" /db_xref="dbSNP:370720912" variation 195 /gene="CACNG7" /replace="c" /replace="g" /db_xref="dbSNP:185024703" variation 197 /gene="CACNG7" /replace="g" /replace="t" /db_xref="dbSNP:200628435" variation 212 /gene="CACNG7" /replace="a" /replace="c" /db_xref="dbSNP:374421569" variation 224 /gene="CACNG7" /replace="a" /replace="g" /db_xref="dbSNP:376239971" variation 239 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:370400432" variation 240 /gene="CACNG7" /replace="a" /replace="g" /db_xref="dbSNP:189778120" variation 260 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:374846922" variation 263 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:367634340" variation 290 /gene="CACNG7" /replace="a" /replace="c" /db_xref="dbSNP:73937618" exon 292..378 /gene="CACNG7" /inference="alignment:Splign:1.39.8" variation 293 /gene="CACNG7" /replace="g" /replace="t" /db_xref="dbSNP:376990952" variation 321 /gene="CACNG7" /replace="a" /replace="g" /db_xref="dbSNP:199845626" variation 337 /gene="CACNG7" /replace="c" /replace="g" /db_xref="dbSNP:369839062" variation 338 /gene="CACNG7" /replace="a" /replace="g" /db_xref="dbSNP:139711961" variation 356 /gene="CACNG7" /replace="a" /replace="g" /db_xref="dbSNP:149797266" variation 365 /gene="CACNG7" /replace="a" /replace="g" /db_xref="dbSNP:371625954" exon 379..519 /gene="CACNG7" /inference="alignment:Splign:1.39.8" variation 440 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:147913695" variation 455..456 /gene="CACNG7" /replace="" /replace="g" /db_xref="dbSNP:34480556" variation 479 /gene="CACNG7" /replace="c" /replace="g" /db_xref="dbSNP:139985451" variation 504 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:376155498" variation 515 /gene="CACNG7" /replace="a" /replace="c" /db_xref="dbSNP:371290517" exon 520..665 /gene="CACNG7" /inference="alignment:Splign:1.39.8" variation 522 /gene="CACNG7" /replace="c" /replace="g" /db_xref="dbSNP:370188701" variation 641 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:374671812" exon 666..2345 /gene="CACNG7" /inference="alignment:Splign:1.39.8" variation 729 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:145186506" variation 744 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:147620570" variation 789 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:149102515" variation 848 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:143202757" variation 874 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:376228325" variation 891 /gene="CACNG7" /replace="g" /replace="t" /db_xref="dbSNP:374568149" variation 910 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:368312328" variation 930 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:199780966" variation 944 /gene="CACNG7" /replace="c" /replace="g" /db_xref="dbSNP:201657701" variation 964 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:375229360" variation 970..971 /gene="CACNG7" /replace="" /replace="g" /db_xref="dbSNP:376023795" variation 970 /gene="CACNG7" /replace="" /replace="a" /db_xref="dbSNP:201079599" variation 971 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:201585165" variation 971 /gene="CACNG7" /replace="" /replace="g" /db_xref="dbSNP:11324363" variation 977 /gene="CACNG7" /replace="" /replace="t" /db_xref="dbSNP:200965310" variation 1028 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:59451715" variation 1090 /gene="CACNG7" /replace="a" /replace="c" /db_xref="dbSNP:146929758" variation 1181 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:79548883" variation 1218 /gene="CACNG7" /replace="" /replace="c" /db_xref="dbSNP:368969641" variation 1350 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:113745456" STS 1352..1935 /gene="CACNG7" /standard_name="ECD11069" /db_xref="UniSTS:292105" variation 1361 /gene="CACNG7" /replace="a" /replace="g" /db_xref="dbSNP:376216018" variation 1402 /gene="CACNG7" /replace="c" /replace="g" /db_xref="dbSNP:370182341" variation 1438 /gene="CACNG7" /replace="a" /replace="g" /db_xref="dbSNP:376233729" variation 1536 /gene="CACNG7" /replace="a" /replace="c" /db_xref="dbSNP:76557265" variation 1655 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:150918276" variation 1771 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:189530565" variation 1816 /gene="CACNG7" /replace="a" /replace="t" /db_xref="dbSNP:140716007" variation 1844 /gene="CACNG7" /replace="a" /replace="c" /db_xref="dbSNP:372009713" variation 1905 /gene="CACNG7" /replace="c" /replace="t" /db_xref="dbSNP:11881669" variation 2045 /gene="CACNG7" /replace="" /replace="c" /db_xref="dbSNP:376574720" variation 2311 /gene="CACNG7" /replace="a" /replace="t" /db_xref="dbSNP:150105963" polyA_signal 2326..2331 /gene="CACNG7" polyA_site 2345 /gene="CACNG7" ORIGIN
tgctgcatggggtcaagcactctggtcggtcccatggagctctgcactgtagcttcccttccacaggccccgcagggcgccccctgcctctgaggatgagtcactgcagcagccgcgccctgaccctgctgagcagcgtgtttggtgcgtgtggcctgctcctggtaggcatcgcggtcagcactgactactggctgtacatggaagaaggcacagtgctaccgcagaaccagaccaccgaggtcaagatggccctgcacgccggcctctggcgagtctgcttctttgcaggtcgggagaaaggtcgctgtgtggcctcagaatattttcttgaaccggagatcaatttggtgacggaaaacacggagaatattctgaagacagtgcgcacggccacccccttccccatggtcagcctcttcctcgtgttcacggccttcgtcatcagcaacatcggccacatccgcccgcagaggaccattctggcttttgtctctggcatcttcttcatactatcgggcctctccttggtggtgggcttggttctttacatctccagcatcaacgacgaggtcatgaacaggcccagcagctctgagcagtattttcattatcgctacgggtggtcttttgccttcgccgcttcctccttcctactcaaagagggggccggcgtgatgtccgtgtacctgttcaccaagcgctacgcggaggaggagatgtaccgtccacacccggccttctaccgcccgcgtctcagcgactgctccgactactcgggccagttcctgcagcccgaggcgtggcgccgcggccggagcccctccgacatctccagcgacgtgtccatccaaatgacgcagaactaccctcccgccatcaagtacccggaccacctgcacatctccacctcgccctgctgaggcccgcccctcggagctccccctgcctcctcctcctcctcgtcttaggggggtctccctgcaatgcagcgcccccttccgtcctcgggactcctcgctcccacccggaggaggctgcgccagctttaggccccgccctcctcccaatggctccgcccacagactcccttatttcaatggccgcgccctcttttcccgacctctccttttcattggtccctctcactcccaaatgactcctccccttcgttggcccgcccctttcctctggcccctcctctccaagaaaattagctcctccctcgttctccacctgctctgagctgggagcagccagaggcggtgcaagcgcccagctccccagagctccccaacctcggacctcaccgcaggggcgctgggctggagagcaggttcgggcagccgtcgggaataccgaccatcctcttctcccttctaacctgggcttcctttttccctgcctaatctcacctcctgacctgctgggtcctccggtgcagtgggagggccggcttgctccacccgcagccccggggtggcgtagggaagggggctggaagccacgggtacggttaacctggcccttccctccccatctcccctacttccctggaaggtcccattctttctcaccggctgggctcttttctgcttcctgaaggttacctgccttttagggggctcttgtctaaaggatcttcttgctttctcagctatccttggcttctttttcgtcttcctcctcctttaactctttctctcctttcctcccttcacccgttcgtcccaagcccttgggtgcatcccgccctaggcgcacaccagacggccagaatggggaccctagggtggagggaattcccccacgccatctccgcacctgtgcccgcctctcccccctcgaggccccgtcgagggagggaggggcagtagcgggggtcgacaccccccccaaacctctaagtcttccattttctggctctcctcctcattgacgtccctcttcccccctcagaaccccaactctggcctctttcaagggcccgtccgccccgttggacagattttggggggagaggaggtcaccaggaactcgcccacccccccttattagggaaagaggggcgaggtagcacagtgctgtacacggaaccagaatggcccccggggtggggggaggggggcaggggagggacgggggcttttagtttgcatcttaggtgggaggggggaggggggacccgccgcagttaacctgactttacgcagcgatttttaacgaggctggggggaggggggcactggggtggggacagggtggggtggggggcctggctctgttatttaccgtgtatcatatgtaaatatcgacagaaacttcaataaactttatttcaaaca
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:59284 -> Molecular function: GO:0005245 [voltage-gated calcium channel activity] evidence: NAS GeneID:59284 -> Biological process: GO:0006816 [calcium ion transport] evidence: NAS GeneID:59284 -> Biological process: GO:2000311 [regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity] evidence: IDA GeneID:59284 -> Cellular component: GO:0005891 [voltage-gated calcium channel complex] evidence: NAS GeneID:59284 -> Cellular component: GO:0032281 [alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex] evidence: ISS
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