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    CACNG5 calcium voltage-gated channel auxiliary subunit gamma 5 [ Homo sapiens (human) ]

    Gene ID: 27091, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CACNG5provided by HGNC
    Official Full Name
    calcium voltage-gated channel auxiliary subunit gamma 5provided by HGNC
    Primary source
    HGNC:HGNC:1409
    See related
    Ensembl:ENSG00000075429 MIM:606405; AllianceGenome:HGNC:1409
    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. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See CACNG5 in Genome Data Viewer
    Location:
    17q24.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (66835117..66894751)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (67710939..67770522)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (64831235..64890868)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene protein kinase C alpha Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:64640965-64642164 Neighboring gene Sharpr-MPRA regulatory region 6976 Neighboring gene RNA, 5S ribosomal pseudogene 445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64672313-64673082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64710611-64711307 Neighboring gene NANOG hESC enhancer GRCh37_chr17:64718354-64718855 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:64726459-64727144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64743608-64744108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64778583-64779084 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:64803038-64803887 Neighboring gene VISTA enhancer hs2613 Neighboring gene microRNA 634 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:64874747-64874957 Neighboring gene RNA, 5S ribosomal pseudogene 446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64971595-64972549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64972550-64973503 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:64974248-64974825 and GRCh37_chr17:64974826-64975402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:64979083-64979584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65001812-65002312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65002313-65002813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12617 Neighboring gene MPRA-validated peak2947 silencer Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 4

    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
    • 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. Evaluation of voltage-dependent calcium channel γ gene families identified several novel potential susceptible genes to schizophrenia. Guan F, et al. Sci Rep, 2016 Apr 22. PMID 27102562, Free PMC Article
    2. 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
    3. Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes. Curtis D, et al. Psychiatr Genet, 2011 Feb. PMID 21057379, Free PMC Article
    4. AMPA receptor subunit-specific regulation by a distinct family of type II TARPs. Kato AS, et al. Neuron, 2008 Sep 25. PMID 18817736
    5. Calcium channel gamma subunits: a functionally diverse protein family. Chen RS, et al. Cell Biochem Biophys, 2007. PMID 17652770

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results indicate that CACNG4, CACNG5, CACNG6 and CACNG8 may contribute to the risk of SCZ. The statistical epistasis identified between CACNG5 and CACNG6 suggests that there may be an underlying biological interaction between the two genes.
      Title: Evaluation of voltage-dependent calcium channel γ gene families identified several novel potential susceptible genes to schizophrenia.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • MGC126656, MGC126682

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables monoatomic ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neurotransmitter receptor internalization IBA
    Inferred from Biological aspect of Ancestor
    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 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 ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in postsynaptic density membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    voltage-dependent calcium channel gamma-5 subunit
    Names
    TARP gamma-5
    calcium channel, voltage-dependent, gamma subunit 5
    neuronal voltage-gated calcium channel gamma-5 subunit
    transmembrane AMPAR regulatory protein gamma-5

    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_001371476.1 → NP_001358405.1  voltage-dependent calcium channel gamma-5 subunit isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005988, KF511234
      Consensus CDS
      CCDS92382.1
      UniProtKB/TrEMBL
      A0A669KBF6
      Related
      ENSP00000501267.1, ENST00000673855.1
      Conserved Domains (1) summary
      cl21598
      Location:18 → 151
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. NM_145811.3 → NP_665810.1  voltage-dependent calcium channel gamma-5 subunit isoform 1

      See identical proteins and their annotated locations for NP_665810.1

      Status: REVIEWED

      Source sequence(s)
      AC005988, KF511234
      Consensus CDS
      CCDS11665.1
      UniProtKB/Swiss-Prot
      A8K2A6, Q547R3, Q8WXS7, Q9UF02, Q9UHM3
      Related
      ENSP00000436836.1, ENST00000533854.6
      Conserved Domains (1) summary
      cl21598
      Location:18 → 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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      66835117..66894751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      67710939..67770522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014404.1: Suppressed sequence

      Description
      NM_014404.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UF02.2 GenPept UniProtKB/Swiss-Prot:Q9UF02

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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