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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 4
  • Calcium Channel, Voltage-Dependent, Gamma Subunit 8 2
  • Transmembrane AMPAR Regulatory Protein Gamma-8 4
  • TARP Gamma-8 4
  • CACNG6 4

External Ids for CACNG8 Gene

Previous GeneCards Identifiers for CACNG8 Gene

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

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 DREAM Repression and Dynorphin Expression and Sweet Taste Signaling. GO annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is CACNG4.

UniProtKB/Swiss-Prot for CACNG8 Gene

  • 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. Thought to stabilize the calcium channel in an inactivated (closed) state.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNG8 Gene

Genomics for CACNG8 Gene

Regulatory Elements for CACNG8 Gene

Enhancers for CACNG8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F053977 0.6 ENCODE 18.5 +16.9 16926 5.8 PKNOX1 CREB3L1 SIN3A FEZF1 ZNF2 ZNF143 ZNF263 SP3 NFYC REST PRPF31 ZNF347 ZNF665 ERVV-2 CACNG8 CDC42EP5 MIR519A2 BIRC8 FAM90A28P ENSG00000269758
GH19F053989 0.5 ENCODE 15.9 +27.9 27926 3.3 KLF1 PKNOX1 SIN3A MAX CHD7 HIC1 POLR2A PATZ1 SCRT2 ZBTB20 CACNG6 CACNG8 GC19P053987
GH19F053941 1.2 Ensembl ENCODE 12.4 -20.4 -20354 1.9 CTCF SP3 NRF1 REST ZBTB7A NR2F2 RARA SP1 POLR2A IKZF1 CACNG8 MIR935 LOC105372457 PRKCG ENSG00000232220 PIR36356
GH19F054011 0.5 Ensembl 10.9 +48.7 48665 0.2 ZFHX2 HLF EGR2 CACNG8 ENSG00000276206 CACNG6
GH19F054007 0.9 Ensembl ENCODE 9.3 +45.7 45656 2.0 JUN CHD4 SIN3A NR3C1 JUND ZFHX2 GATA3 POLR2A ZNF341 STAT3 CACNG8 CACNG6 ENSG00000276206
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CACNG8 on UCSC Golden Path with GeneCards custom track

Genomic Location for CACNG8 Gene

Chromosome:
19
Start:
53,963,036 bp from pter
End:
53,990,215 bp from pter
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:
    • The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. 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 (By similarity).
    • The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. 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 (By similarity).
    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; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for CACNG8 Gene

Post-translational modifications for CACNG8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CACNG8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CACNG8

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

Suggested Antigen Peptide Sequences for CACNG8 Gene

GenScript: Design optimal peptide antigens:

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 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. Thought to stabilize the calcium channel in an inactivated (closed) state.

Gene Ontology (GO) - Molecular Function for CACNG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity NAS 11170751
GO:0005262 calcium channel activity IEA --
GO:0016247 channel regulator activity IBA --
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

miRNA for CACNG8 Gene

miRTarBase miRNAs that target CACNG8

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNG8 Gene COMPARTMENTS Subcellular localization image for CACNG8 gene
Compartment Confidence
plasma membrane 5

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

Pathways & Interactions for CACNG8 Gene

genes like me logo Genes that share pathways with CACNG8: view

Gene Ontology (GO) - Biological Process for CACNG8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport NAS 11170751
GO:0019226 transmission of nerve impulse IBA --
GO:0034765 regulation of ion transmembrane transport IEA --
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

(2) Drugs for CACNG8 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aniracetam Experimental Pharma Positive, Allosteric regulator Nootropic drug for senile dementia 0
calcium Nutra 0

(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

Transcripts for CACNG8 Gene

mRNA/cDNA for CACNG8 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CACNG8 Gene

Calcium channel, voltage-dependent, gamma subunit 8:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CACNG8 Gene

GeneLoc Exon Structure for
CACNG8
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for CACNG8 Gene



Protein tissue co-expression partners for CACNG8 Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNG8 Gene:

CACNG8

SOURCE GeneReport for Unigene cluster for CACNG8 Gene:

Hs.631595
genes like me logo Genes that share expression patterns with CACNG8: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99 (a)
OneToOne
CACNG8 34
  • 98.9 (n)
cow
(Bos Taurus)
Mammalia bta-mir-935 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNG8 34 35
  • 93.47 (n)
rat
(Rattus norvegicus)
Mammalia Cacng8 34
  • 85.95 (n)
mouse
(Mus musculus)
Mammalia Cacng8 34 16 35
  • 85.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACNG8 35
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNG8 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacng8 34
  • 69.03 (n)
zebrafish
(Danio rerio)
Actinopterygii cacng8b 34 35
  • 73.51 (n)
cacng8a 35
  • 58 (a)
OneToMany
Dr.14582 34
Species where no ortholog for CACNG8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CACNG8 Gene

Paralogs for CACNG8 Gene

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

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

Variants for CACNG8 Gene

Sequence variations from dbSNP and Humsavar for CACNG8 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10402220 -- 53,975,757(+) aatac(A/G)gtgtc intron-variant
rs10412355 -- 53,986,388(+) GAAAC(A/T)CACTG utr-variant-3-prime
rs10412501 -- 53,986,249(+) GCAGC(A/G)TCAAG utr-variant-3-prime
rs10412581 -- 53,986,500(+) ttggg(A/G)ggccg utr-variant-3-prime
rs10412765 -- 53,986,493(+) cagca(C/T)tttgg utr-variant-3-prime

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)

Relevant External Links for CACNG8 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
  • congestive cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CACNG8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNG8
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 Ca(2+) channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family. (PMID: 11170751) Burgess D.L. … Noebels J.L. (Genomics 2001) 2 3 4 22 64
  2. Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating. (PMID: 20805473) Shi Y. … Nicoll R.A. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4 64
  3. Hippocampal AMPA receptor gating controlled by both TARP and cornichon proteins. (PMID: 21172611) Kato A.S. … Bredt D.S. (Neuron 2010) 3 4 64
  4. Calcium channel gamma subunits provide insights into the evolution of this gene family. (PMID: 11738816) Chu P.-J. … Best P.M. (Gene 2001) 3 4 64
  5. Patients with Dilated Cardiomyopathy and Sustained Monomorphic Ventricular Tachycardia Show Up-Regulation of KCNN3 and KCNJ2 Genes and CACNG8-Linked Left Ventricular Dysfunction. (PMID: 26710323) Ortega A. … Rivera M. (PLoS ONE 2015) 3 64

Products for CACNG8 Gene

Sources for CACNG8 Gene

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