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Aliases for CACNG6 Gene

Aliases for CACNG6 Gene

  • Calcium Channel, Voltage-Dependent, Gamma Subunit 6 2 3
  • Neuronal Voltage-Gated Calcium Channel Gamma-6 Subunit 4

External Ids for CACNG6 Gene

Previous GeneCards Identifiers for CACNG6 Gene

  • GC19P055141
  • GC19P054920
  • GC19P059170
  • GC19P059187
  • GC19P054495
  • GC19P050811

Summaries for CACNG6 Gene

Entrez Gene Summary for CACNG6 Gene

  • Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. 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 that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]

GeneCards Summary for CACNG6 Gene

CACNG6 (Calcium Channel, Voltage-Dependent, Gamma Subunit 6) is a Protein Coding gene. Diseases associated with CACNG6 include arrhythmogenic right ventricular cardiomyopathy and asthma. Among its related pathways are MAPK signaling pathway and ERK Signaling. GO annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is CACNG1.

UniProtKB/Swiss-Prot for CACNG6 Gene

  • 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 CACNG6 Gene

Genomics for CACNG6 Gene

Regulatory Elements for CACNG6 Gene

Genomic Location for CACNG6 Gene

Start:
53,991,149 bp from pter
End:
54,012,669 bp from pter
Size:
21,521 bases
Orientation:
Plus strand

Genomic View for CACNG6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CACNG6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNG6 Gene

Proteins for CACNG6 Gene

  • Protein details for CACNG6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXT2-CCG6_HUMAN
    Recommended name:
    Voltage-dependent calcium channel gamma-6 subunit
    Protein Accession:
    Q9BXT2
    Secondary Accessions:

    Protein attributes for CACNG6 Gene

    Size:
    260 amino acids
    Molecular mass:
    28129 Da
    Quaternary structure:
    • The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma

neXtProt entry for CACNG6 Gene

Proteomics data for CACNG6 Gene at MOPED

Post-translational modifications for CACNG6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CACNG6 Gene

No data available for DME Specific Peptides for CACNG6 Gene

Domains for CACNG6 Gene

Gene Families for CACNG6 Gene

HGNC:
  • CACN :Calcium channel subunits

Protein Domains for CACNG6 Gene

Suggested Antigen Peptide Sequences for CACNG6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXT2

UniProtKB/Swiss-Prot:

CCG6_HUMAN :
  • Q9BXT2
Family:
  • Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.
genes like me logo Genes that share domains with CACNG6: view

Function for CACNG6 Gene

Molecular function for CACNG6 Gene

UniProtKB/Swiss-Prot Function: Thought to stabilize the calcium channel in an inactivated (closed) state.

Gene Ontology (GO) - Molecular Function for CACNG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity --
GO:0005245 voltage-gated calcium channel activity NAS 11170751
GO:0005262 calcium channel activity --
genes like me logo Genes that share ontologies with CACNG6: view

Phenotypes for CACNG6 Gene

MGI mutant phenotypes for CACNG6:
inferred from 1 alleles
GenomeRNAi human phenotypes for CACNG6:
genes like me logo Genes that share phenotypes with CACNG6: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CACNG6 Gene

Localization for CACNG6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNG6 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNG6 Gene COMPARTMENTS Subcellular localization image for CACNG6 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CACNG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005891 voltage-gated calcium channel complex NAS 11170751
GO:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with CACNG6: view

Pathways for CACNG6 Gene

genes like me logo Genes that share pathways with CACNG6: view

Interacting Proteins for CACNG6 Gene

Gene Ontology (GO) - Biological Process for CACNG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006816 calcium ion transport NAS 11170751
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0070588 calcium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with CACNG6: view

Compounds for CACNG6 Gene

(1) HMDB Compounds for CACNG6 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with CACNG6: view

Transcripts for CACNG6 Gene

mRNA/cDNA for CACNG6 Gene

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

Unigene Clusters for CACNG6 Gene

Calcium channel, voltage-dependent, gamma subunit 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CACNG6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2: - -

Relevant External Links for CACNG6 Gene

GeneLoc Exon Structure for
CACNG6
ECgene alternative splicing isoforms for
CACNG6

Expression for CACNG6 Gene

mRNA expression in normal human tissues for CACNG6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNG6 Gene

This gene is overexpressed in Muscle - Skeletal (42.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CACNG6 Gene

SOURCE GeneReport for Unigene cluster for CACNG6 Gene Hs.631560

genes like me logo Genes that share expressions with CACNG6: view

No data available for mRNA Expression by UniProt/SwissProt for CACNG6 Gene

Orthologs for CACNG6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CACNG6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNG6 35
  • 99.36 (n)
  • 99.23 (a)
CACNG6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNG6 35
  • 88.16 (n)
  • 87.64 (a)
CACNG6 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNG6 35
  • 86.74 (n)
  • 87.64 (a)
CACNG6 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacng6 35
  • 83.46 (n)
  • 86.33 (a)
Cacng6 16
Cacng6 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNG6 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacng6 35
  • 83.98 (n)
  • 87.11 (a)
lizard
(Anolis carolinensis)
Reptilia CACNG6 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacng6 35
  • 61.52 (n)
  • 57.72 (a)
zebrafish
(Danio rerio)
Actinopterygii cacng6a 36
  • 41 (a)
OneToMany
cacng6b 35
  • 57.4 (n)
  • 49.79 (a)
cacng6b 36
  • 44 (a)
OneToMany
Species with no ortholog for CACNG6:
  • 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 CACNG6 Gene

ENSEMBL:
Gene Tree for CACNG6 (if available)
TreeFam:
Gene Tree for CACNG6 (if available)

Paralogs for CACNG6 Gene

Paralogs for CACNG6 Gene

Selected SIMAP similar genes for CACNG6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CACNG6: view

Variants for CACNG6 Gene

Sequence variations from dbSNP and Humsavar for CACNG6 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs158194 -- 53,993,721(+) CACCC(C/G)TAGAC intron-variant
rs158195 -- 53,996,581(+) agaga(C/T)ggggt intron-variant
rs158196 -- 53,997,358(+) ACCTG(A/G)CTTGA intron-variant
rs158197 -- 53,999,155(+) gccac(C/T)gcacc intron-variant
rs158198 -- 53,999,531(+) TCTCT(C/T)GTCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNG6 Gene

Variant ID Type Subtype PubMed ID
esv2718812 CNV Deletion 23290073
nsv833876 CNV Loss 17160897
nsv833877 CNV Loss 17160897
nsv458782 CNV Gain 19166990
nsv912391 CNV Loss 21882294
dgv4000n71 CNV Loss 21882294

Relevant External Links for CACNG6 Gene

HapMap Linkage Disequilibrium report
CACNG6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNG6 Gene

Disorders for CACNG6 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for CACNG6 Gene including...

Search for CACNG6 Gene in MalaCards »

Relevant External Links for CACNG6

Genetic Association Database (GAD)
CACNG6
Human Genome Epidemiology (HuGE) Navigator
CACNG6
genes like me logo Genes that share disorders with CACNG6: view

No data available for UniProtKB/Swiss-Prot for CACNG6 Gene

Publications for CACNG6 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
  2. 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
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Association of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population. (PMID: 20860846) Lee J.S. … Shin H.D. (BMC Med. Genet. 2010) 3 48
  5. Calcium channel gamma subunits: a functionally diverse protein family. (PMID: 17652770) Chen R.S. … Best P.M. (Cell Biochem. Biophys. 2007) 3

Products for CACNG6 Gene

Sources for CACNG6 Gene

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