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    CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 [ Homo sapiens (human) ]

    Gene ID: 10368, updated on 27-Nov-2024

    Summary

    Official Symbol
    CACNG3provided by HGNC
    Official Full Name
    calcium voltage-gated channel auxiliary subunit gamma 3provided by HGNC
    Primary source
    HGNC:HGNC:1407
    See related
    Ensembl:ENSG00000006116 MIM:606403; AllianceGenome:HGNC:1407
    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 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]
    Expression
    Restricted expression toward brain (RPKM 19.9) See more
    Orthologs
    NEW
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    Genomic context

    See CACNG3 in Genome Data Viewer
    Location:
    16p12.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (24256335..24362412)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (24532831..24639260)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (24267656..24373733)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene protein kinase C beta Neighboring gene NANOG hESC enhancer GRCh37_chr16:24219906-24220465 Neighboring gene microRNA 1273h Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:24257631-24258830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:24267404-24268131 Neighboring gene long intergenic non-protein coding RNA 2194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:24327354-24327854 Neighboring gene small nucleolar RNA SNORA1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:24354853-24355354 Neighboring gene NANOG hESC enhancer GRCh37_chr16:24368887-24369391 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:24392929-24394128 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:24394102-24394791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10599 Neighboring gene RNA, U7 small nuclear 24 pseudogene Neighboring gene uncharacterized LOC105371143 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr16:24493839-24494713

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ionotropic glutamate receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein targeting ISS
    Inferred from Sequence or Structural Similarity
    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
     
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in excitatory synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse 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
     
    located_in somatodendritic compartment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of voltage-gated calcium channel complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    voltage-dependent calcium channel gamma-3 subunit
    Names
    TARP gamma-3
    calcium channel, voltage-dependent, gamma subunit 3
    neuronal voltage-gated calcium channel gamma-3 subunit
    transmembrane AMPAR regulatory protein gamma-3
    voltage-gated calcium channel gamma subunit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_006539.4NP_006530.1  voltage-dependent calcium channel gamma-3 subunit

      See identical proteins and their annotated locations for NP_006530.1

      Status: REVIEWED

      Source sequence(s)
      AC004125
      Consensus CDS
      CCDS10620.1
      UniProtKB/Swiss-Prot
      O60359
      UniProtKB/TrEMBL
      B2RCK1, B3KP08, B3KTH0
      Related
      ENSP00000005284.4, ENST00000005284.4
      Conserved Domains (1) summary
      cl21598
      Location:6196
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      24256335..24362412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      24532831..24639260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)