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2024-03-29 15:54:37, 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
//

Annotations:

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

by @meso_cacase at DBCLS
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