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CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 [ Homo sapiens (human) ]

Gene ID: 59283, updated on 2-Oct-2018

Summary

Official Symbol
CACNG8provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit gamma 8provided by HGNC
Primary source
HGNC:HGNC:13628
See related
Ensembl:ENSG00000142408 MIM:606900; Vega:OTTHUMG00000064908
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 and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]
Expression
Restricted expression toward brain (RPKM 9.1) See more
Orthologs

Genomic context

See CACNG8 in Genome Data Viewer
Location:
19q13.42
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (53963036..53990215)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54466290..54493469)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene protein kinase C gamma Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 7 Neighboring gene microRNA 935 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 6 Neighboring gene V-set and transmembrane domain containing 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
    Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Cardiac muscle contraction, conserved biosystem (from KEGG)
    Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystem (from REACTOME)
    Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystemExcitatory synaptic transmission in the brain is carried out by glutamate receptors through the activation of both ionotropic and metabotropic receptors. Ionotropic glutamate receptors are of three ...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • LGI-ADAM interactions, organism-specific biosystem (from REACTOME)
    LGI-ADAM interactions, organism-specific biosystemSynapse formation and maturation require multiple interactions between presynaptic and postsynaptic neurons. These interactions are mediated by a diverse set of synaptogenic proteins (Kegel et al. 20...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
  • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
    Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Oxytocin signaling pathway, conserved biosystem (from KEGG)
    Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
    Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
  • Phase 2 - plateau phase, organism-specific biosystem (from REACTOME)
    Phase 2 - plateau phase, organism-specific biosystemPhase 2 of the cardiac action potential is the plateau phase which is sustained by a balance of Ca2+ influx through L-type Ca2+ channels (LTCCs) and K+ efflux through the slow delayed rectifier K+ ch...
  • Trafficking of AMPA receptors, organism-specific biosystem (from REACTOME)
    Trafficking of AMPA receptors, organism-specific biosystemRepetitive presynaptic activity causes long lasting changes in the postsynaptic transmission by changing the type and the number of AMPA receptors. These changes are brought about by trafficking mec...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

General gene information

Markers

Homology

Clone Names

  • FLJ16240, FLJ30598

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel regulator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated calcium channel activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
calcium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
neurotransmitter receptor internalization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter receptor transport, postsynaptic endosome to lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic neurotransmitter receptor diffusion trapping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of AMPA receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of AMPA receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
transmission of nerve impulse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
AMPA glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AMPA glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
L-type voltage-gated calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated calcium channel complex NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
voltage-dependent calcium channel gamma-8 subunit
Names
TARP gamma-8
calcium channel, voltage-dependent, gamma subunit 8
neuronal voltage-gated calcium channel gamma-8 subunit
transmembrane AMPAR regulatory protein gamma-8

NCBI Reference Sequences (RefSeq)

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_031895.5NP_114101.4  voltage-dependent calcium channel gamma-8 subunit

    See identical proteins and their annotated locations for NP_114101.4

    Status: REVIEWED

    Source sequence(s)
    AC008440, AF288388
    Consensus CDS
    CCDS33104.1
    UniProtKB/Swiss-Prot
    Q8WXS5
    Related
    ENSP00000270458.2, OTTHUMP00000067377, ENST00000270458.2, OTTHUMT00000139361
    Conserved Domains (1) summary
    cl21598
    Location:17223
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    53963036..53990215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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