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    CACNG7 calcium voltage-gated channel auxiliary subunit gamma 7 [ Homo sapiens (human) ]

    Gene ID: 59284, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CACNG7provided by HGNC
    Official Full Name
    calcium voltage-gated channel auxiliary subunit gamma 7provided by HGNC
    Primary source
    HGNC:HGNC:13626
    See related
    Ensembl:ENSG00000105605 MIM:606899; AllianceGenome:HGNC:13626
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Restricted expression toward brain (RPKM 18.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See CACNG7 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (53909278..53943950)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (56988984..57022442)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54412532..54447204)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MYADM antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54369942-54370917 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54372027-54372940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54372941-54373854 Neighboring gene myeloid associated differentiation marker Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54385903-54386454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54395841-54396380 Neighboring gene protein kinase C gamma Neighboring gene Sharpr-MPRA regulatory region 4174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54410617-54411158 Neighboring gene MPRA-validated peak3551 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:54460576-54461110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54463321-54464221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54465032-54465552 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54483237-54483769 Neighboring gene microRNA 935 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The novel product of a five-exon stargazin-related gene abolishes Ca(V)2.2 calcium channel expression. Moss FJ, et al. EMBO J, 2002 Apr 2. PMID 11927536, Free PMC Article
    2. Cardiac L-type calcium channel (Cav1.2) associates with gamma subunits. Yang L, et al. FASEB J, 2011 Mar. PMID 21127204, Free PMC Article
    3. Calcium channel gamma subunits: a functionally diverse protein family. Chen RS, et al. Cell Biochem Biophys, 2007. PMID 17652770
    4. A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family. Burgess DL, et al. Genomics, 2001 Feb 1. PMID 11170751
    5. Hippocampal AMPA receptor gating controlled by both TARP and cornichon proteins. Kato AS, et al. Neuron, 2010 Dec 22. PMID 21172611, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables voltage-gated calcium channel activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium ion transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in neurotransmitter receptor internalization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neurotransmitter receptor localization to postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neurotransmitter receptor transport, postsynaptic endosome to lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of dendrite extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in postsynaptic neurotransmitter receptor diffusion trapping IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of AMPA receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mRNA stability IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmission of nerve impulse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of AMPA glutamate receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of AMPA glutamate receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of L-type voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cerebellar mossy fiber IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in postsynaptic density membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of voltage-gated calcium channel complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    voltage-dependent calcium channel gamma-7 subunit
    Names
    TARP gamma-7
    calcium channel, voltage-dependent, gamma subunit 7
    neuronal voltage-gated calcium channel gamma-7 subunit
    transmembrane AMPAR regulatory protein gamma-7

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001384801.1 → NP_001371730.1  voltage-dependent calcium channel gamma-7 subunit isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the allele encoded by the GRCh38 reference genome and encodes isoform (2).
      Source sequence(s)
      AC008440
      Conserved Domains (2) summary
      PHA03378
      Location:162 → 291
      PHA03378; EBNA-3B; Provisional
      cl21598
      Location:18 → 143
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. NM_001412134.1 → NP_001399063.1  voltage-dependent calcium channel gamma-7 subunit isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses the same exon combination as variant 2 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (3) has a frameshifted C-terminus compared to isoform 2.
      Source sequence(s)
      CP068259

    3. NM_031896.5 → NP_114102.2  voltage-dependent calcium channel gamma-7 subunit isoform 1

      See identical proteins and their annotated locations for NP_114102.2

      Status: REVIEWED

      Source sequence(s)
      AC008440
      Consensus CDS
      CCDS12868.1
      UniProtKB/Swiss-Prot
      P62955, Q52LL8, Q8VBX3, Q8WXS6, Q9BXT1
      Related
      ENSP00000375647.1, ENST00000391767.6
      Conserved Domains (1) summary
      cl21598
      Location:16 → 195
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      53909278..53943950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      56988984..57022442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P62955.1 GenPept UniProtKB/Swiss-Prot:P62955

    Gene LinkOut

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