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 subun... See more...

Aliases for CACNG8 Gene

Aliases for CACNG8 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 8 2 3 5
  • Neuronal Voltage-Gated Calcium Channel Gamma-8 Subunit 3 4
  • Calcium Channel, Voltage-Dependent, Gamma Subunit 8 2 3
  • Voltage-Dependent Calcium Channel Gamma-8 Subunit 3 4
  • Transmembrane AMPAR Regulatory Protein Gamma-8 3 4
  • TARP Gamma-8 3 4
  • CACNG8 5
  • CACNG6 4

External Ids for CACNG8 Gene

Previous GeneCards Identifiers for CACNG8 Gene

  • GC19P055111
  • GC19P054890
  • GC19P059142
  • GC19P059158
  • GC19P054466
  • GC19P050783
  • GC19P053963

Summaries for CACNG8 Gene

Entrez Gene Summary for CACNG8 Gene

  • 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]

GeneCards Summary for CACNG8 Gene

CACNG8 (Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 8) is a Protein Coding gene. Diseases associated with CACNG8 include Dilated Cardiomyopathy. Among its related pathways are Integrin Pathway and Phase 0 - rapid depolarisation. Gene Ontology (GO) annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is CACNG4.

UniProtKB/Swiss-Prot Summary for CACNG8 Gene

  • Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits.

Additional gene information for CACNG8 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNG8 Gene

Genomics for CACNG8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CACNG8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J053961 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 605 -0.6 -637 1.8 PRDM10 ZIC2 PATZ1 REST EZH2 ZNF600 ZNF561 ZBTB20 ZXDB ZBTB11 CACNG8 NONHSAG026482.2 ZNF347 ZNF702P ENSG00000267838 ZNF665 CACNG6 TFPT NDUFA3 CACNG7
GH19J053960 Enhancer 0.3 ENCODE 600.7 -1.9 -1895 0.2 EZH2 CACNG8 lnc-VSTM1-3 CACNG7
GH19J053977 Promoter/Enhancer 1.3 Ensembl ENCODE 18.5 +17.3 17307 6.3 CREB1 ATF7 PRDM10 ZNF629 ZNF512 SIX5 IKZF1 RFX5 KDM1A ZNF692 PRPF31 ZNF525 LENG8-AS1 ZNF160 ZNF845 ZNF665 ZNF761 ZNF347 LENG8 ENSG00000235681
GH19J053989 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 15.9 +28.2 28217 3.7 ZNF692 RFX1 PATZ1 REST EZH2 SCRT2 ZBTB20 SP2 SP1 ATF3 CACNG6 NONHSAG026484.2 CACNG8 lnc-CACNG6-2 piR-61945-265 VSTM1
GH19J054018 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 8.8 +58.2 58180 6.8 CREB1 CTCF REST ZNF512 LEF1 IKZF1 JUND ETV6 RFX1 PKNOX1 LILRB3 VSTM1 LILRA5 OSCAR MYADM LILRB2 NLRP12 LAIR1 CACNG8 LILRA6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNG8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNG8

Top Transcription factor binding sites by QIAGEN in the CACNG8 gene promoter:
  • c-Myb
  • CUTL1
  • E47
  • GATA-1
  • IRF-1
  • Max1
  • MyoD
  • RP58
  • Sox9
  • Tal-1

Genomic Locations for CACNG8 Gene

Genomic Locations for CACNG8 Gene
chr19:53,962,937-53,990,215
(GRCh38/hg38)
Size:
27,279 bases
Orientation:
Plus strand
chr19:54,466,290-54,493,469
(GRCh37/hg19)
Size:
27,180 bases
Orientation:
Plus strand

Genomic View for CACNG8 Gene

Genes around CACNG8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNG8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNG8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNG8 Gene

Proteins for CACNG8 Gene

  • Protein details for CACNG8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXS5-CCG8_HUMAN
    Recommended name:
    Voltage-dependent calcium channel gamma-8 subunit
    Protein Accession:
    Q8WXS5
    Secondary Accessions:
    • Q9BXT0
    • Q9BY23

    Protein attributes for CACNG8 Gene

    Size:
    425 amino acids
    Molecular mass:
    43313 Da
    Quaternary structure:
    • Interacts with CACNA1C. Identified in a complex with the L-type calcium channel subunits CACNA1C, CACNA2D1 and either CACNB1 or CACNB2. Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5 and CACNG7. Interacts with CNIH2.
    SequenceCaution:
    • Sequence=AAK15019.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=AAL50049.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for CACNG8 Gene

Post-translational modifications for CACNG8 Gene

  • Palmitoylated. Probably palmitoylated by ZDHHC3 and ZDHHC7.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CACNG8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CACNG8 Gene

Domains & Families for CACNG8 Gene

Gene Families for CACNG8 Gene

Protein Domains for CACNG8 Gene

InterPro:
Blocks:
  • Claudin family signature
ProtoNet:

Suggested Antigen Peptide Sequences for CACNG8 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane AMPAR regulatory protein gamma-8 (CCG8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXS5

UniProtKB/Swiss-Prot:

CCG8_HUMAN :
  • Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.
Family:
  • Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.
genes like me logo Genes that share domains with CACNG8: view

Function for CACNG8 Gene

Molecular function for CACNG8 Gene

UniProtKB/Swiss-Prot Function:
Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits.

Gene Ontology (GO) - Molecular Function for CACNG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IBA, NAS 11170751
GO:0005246 calcium channel regulator activity ISS --
GO:0005262 calcium channel activity IEA --
GO:0016247 channel regulator activity IBA 21873635
genes like me logo Genes that share ontologies with CACNG8: view
genes like me logo Genes that share phenotypes with CACNG8: view

Animal Models for CACNG8 Gene

MGI Knock Outs for CACNG8:

Animal Model Products

CRISPR Products

miRNA for CACNG8 Gene

miRTarBase miRNAs that target CACNG8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNG8

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNG8 Gene

Localization for CACNG8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNG8 Gene

Cell membrane. Multi-pass membrane protein. Cell junction, synapse, postsynaptic density membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNG8 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CACNG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex NAS 11170751
GO:0014069 postsynaptic density ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CACNG8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNG8 Gene

Pathways & Interactions for CACNG8 Gene

PathCards logo

SuperPathways for CACNG8 Gene

SuperPathway Contained pathways
1 nNOS Signaling in Skeletal Muscle
.44
.44
.37
.36
.31
2 TCR Signaling (Qiagen)
.68
.68
.54
.49
.39
3 Activation of cAMP-Dependent PKA
.77
.77
.56
4 CCR5 Pathway in Macrophages
.52
.52
.33
5 Sweet Taste Signaling
.72
.72
.46
genes like me logo Genes that share pathways with CACNG8: view

Pathways by source for CACNG8 Gene

1 GeneGo (Thomson Reuters) pathway for CACNG8 Gene
  • Transcription CREB pathway
37 Qiagen pathways for CACNG8 Gene
  • Activation of cAMP-Dependent PKA
  • all-trans-Retinoic Acid Signaling in Brain
  • Androgen Signaling
  • BMP Pathway
  • Calpain Protease Regulates Cellular Mechanics

Gene Ontology (GO) - Biological Process for CACNG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA,NAS 11170751
GO:0019226 transmission of nerve impulse IBA 21873635
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051968 positive regulation of synaptic transmission, glutamatergic IBA 21873635
genes like me logo Genes that share ontologies with CACNG8: view

No data available for SIGNOR curated interactions for CACNG8 Gene

Drugs & Compounds for CACNG8 Gene

(7) Drugs for CACNG8 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bioallethrin Approved, Experimental Pharma Target, agonist 0
Butamben Approved, Withdrawn Pharma Target, inhibitor 0
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor, activator 2
Spironolactone Approved Pharma Antagonist, Target, inhibitor Mineralocorticoid receptor antagonist 222
Ergocalciferol Approved Nutra Target, inducer 415

(1) ApexBio Compounds for CACNG8 Gene

Compound Action Cas Number
Aniracetam Nootropic drug for senile dementia 72432-10-1
genes like me logo Genes that share compounds with CACNG8: view

Drug Products

Transcripts for CACNG8 Gene

mRNA/cDNA for CACNG8 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNG8

Alternative Splicing Database (ASD) splice patterns (SP) for CACNG8 Gene

No ASD Table

Relevant External Links for CACNG8 Gene

GeneLoc Exon Structure for
CACNG8

Expression for CACNG8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNG8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNG8 Gene

This gene is overexpressed in Brain - Hippocampus (x10.8), Brain - Frontal Cortex (BA9) (x7.3), Brain - Cortex (x6.2), Brain - Anterior cingulate cortex (BA24) (x6.2), and Brain - Amygdala (x4.9).

Protein differential expression in normal tissues from HIPED for CACNG8 Gene

This gene is overexpressed in Brain (52.2) and Cervix (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNG8 Gene



Protein tissue co-expression partners for CACNG8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNG8

SOURCE GeneReport for Unigene cluster for CACNG8 Gene:

Hs.631595

mRNA Expression by UniProt/SwissProt for CACNG8 Gene:

Q8WXS5-CCG8_HUMAN
Tissue specificity: Detected in heart left ventricle.

Evidence on tissue expression from TISSUES for CACNG8 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with CACNG8: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNG8 Gene

Orthologs for CACNG8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CACNG8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ptr-mir-935 31
  • 99 (a)
OneToOne
CACNG8 30
  • 98.9 (n)
Cow
(Bos Taurus)
Mammalia bta-mir-935 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CACNG8 30 31
  • 93.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cacng8 30
  • 85.95 (n)
Mouse
(Mus musculus)
Mammalia Cacng8 30 17 31
  • 85.08 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CACNG8 31
  • 79 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CACNG8 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cacng8 30
  • 69.03 (n)
Zebrafish
(Danio rerio)
Actinopterygii cacng8b 30 31
  • 73.51 (n)
OneToMany
cacng8a 31
  • 58 (a)
OneToMany
Dr.14582 30
Species where no ortholog for CACNG8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CACNG8 Gene

ENSEMBL:
Gene Tree for CACNG8 (if available)
TreeFam:
Gene Tree for CACNG8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNG8: view image

Paralogs for CACNG8 Gene

Paralogs for CACNG8 Gene

(4) SIMAP similar genes for CACNG8 Gene using alignment to 1 proteins:

  • CCG8_HUMAN
genes like me logo Genes that share paralogs with CACNG8: view

Variants for CACNG8 Gene

Additional dbSNP identifiers (rs#s) for CACNG8 Gene

Structural Variations from Database of Genomic Variants (DGV) for CACNG8 Gene

Variant ID Type Subtype PubMed ID
dgv1815n106 CNV deletion 24896259
dgv662e199 CNV deletion 23128226
esv21442 CNV loss 19812545
esv2718812 CNV deletion 23290073
nsv1057516 CNV gain 25217958
nsv1063127 CNV gain 25217958
nsv1071548 CNV deletion 25765185
nsv1071549 CNV deletion 25765185
nsv458782 CNV gain 19166990
nsv580110 CNV gain 21841781
nsv580111 CNV loss 21841781
nsv820406 CNV deletion 20802225
nsv828624 CNV loss 20364138
nsv833876 CNV loss 17160897
nsv833877 CNV loss 17160897
nsv953611 CNV deletion 24416366
nsv953612 CNV deletion 24416366

Variation tolerance for CACNG8 Gene

Residual Variation Intolerance Score: 41.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNG8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNG8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNG8 Gene

Disorders for CACNG8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CACNG8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CACNG8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACNG8 Gene

Publications for CACNG8 Gene

  1. A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family. (PMID: 11170751) Burgess DL … Noebels JL (Genomics 2001) 2 3 4 23
  2. Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating. (PMID: 20805473) Shi Y … Nicoll RA (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
  3. Hippocampal AMPA receptor gating controlled by both TARP and cornichon proteins. (PMID: 21172611) Kato AS … Bredt DS (Neuron 2010) 3 4
  4. Calcium channel gamma subunits provide insights into the evolution of this gene family. (PMID: 11738816) Chu PJ … Best PM (Gene 2001) 3 4
  5. Evaluation of voltage-dependent calcium channel γ gene families identified several novel potential susceptible genes to schizophrenia. (PMID: 27102562) Guan F … Li T (Scientific reports 2016) 3

Products for CACNG8 Gene

Sources for CACNG8 Gene