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Aliases for CACNG6 Gene

Aliases for CACNG6 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 6 2 3 5
  • Neuronal Voltage-Gated Calcium Channel Gamma-6 Subunit 4
  • Calcium Channel, Voltage-Dependent, Gamma Subunit 6 2

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 Voltage-Gated Channel Auxiliary Subunit Gamma 6) is a Protein Coding gene. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Fc-GammaR Pathway. GO annotations related to this gene include calcium channel activity and voltage-gated ion 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.

Additional gene information for CACNG6 Gene

No data available for CIViC summary , 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

Enhancers for CACNG6 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
GH19H053989 1 ENCODE dbSUPER 30.2 -0.2 -188 3 PKNOX1 KLF1 MAX CHD7 HIC1 POLR2A PATZ1 SCRT2 ZBTB20 EZH2 CACNG6 CACNG8 GC19P053987
GH19H053851 1.2 FANTOM5 Ensembl ENCODE 11.2 -139.3 -139309 1 NFIC NFIA POLR2A NFIB MAX MYC ENSG00000232220 PRKCG CACNG6 MIR935 MYADM VSTM1 LILRA5 OSCAR NLRP12 LILRB2
GH19H053840 1.2 Ensembl ENCODE 11.2 -149.0 -149021 2 PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF143 FOS ATF7 SP3 REST LOC105372457 ENSG00000232220 PRKCG CACNG6 MIR935 MIR520A MIR1283-1 MIR519C MIR515-2 MIR519E
GH19H054034 1.1 FANTOM5 Ensembl ENCODE 12.1 +44.6 44554 2 JUND JUN STAT3 MAX FOS MYC CACNG6 MIR935 ENSG00000232220 PRKCG LOC105372457 ENSG00000276206 VSTM1
GH19H053844 1.1 FANTOM5 Ensembl ENCODE 11.2 -146.1 -146056 0 ZNF121 HLF CEBPB CEBPG ATF2 LOC105372457 PRKCG ENSG00000232220 MIR935 CACNG6 MIR520A MIR1283-1 MIR519C MIR515-1 MIR519E
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CACNG6 on UCSC Golden Path with GeneCards custom track

Promoters for CACNG6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000111435 351 601 PKNOX1 MAZ SP3 KLF1 RFX1 SP2 NR3C1 ZNF398 HIC1 POLR2A

Genomic Location for CACNG6 Gene

Chromosome:
19
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

Genes around CACNG6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNG6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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

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 & Families for CACNG6 Gene

Gene Families for CACNG6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

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 :
  • 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 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:0005245 voltage-gated calcium channel activity NAS 11170751
GO:0005262 calcium channel activity IEA --
genes like me logo Genes that share ontologies with CACNG6: view
genes like me logo Genes that share phenotypes with CACNG6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CACNG6

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CACNG6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
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 CACNG6 gene
Compartment Confidence
plasma membrane 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CACNG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex NAS 11170751
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CACNG6: view

Pathways & Interactions for CACNG6 Gene

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

Gene Ontology (GO) - Biological Process for CACNG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport NAS,IEA 11170751
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0061337 cardiac conduction TAS --
genes like me logo Genes that share ontologies with CACNG6: view

No data available for SIGNOR curated interactions for CACNG6 Gene

Drugs & Compounds for CACNG6 Gene

(1) Drugs for CACNG6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with CACNG6: view

Transcripts for CACNG6 Gene

mRNA/cDNA for CACNG6 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(13) Selected AceView cDNA 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CACNG6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x42.2).

Protein differential expression in normal tissues from HIPED for CACNG6 Gene

This gene is overexpressed in Lymph node (9.0), Oral epithelium (6.7), Uterus (6.5), Monocytes (6.2), and Fetal gut (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNG6 Gene



Protein tissue co-expression partners for CACNG6 Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNG6 Gene:

CACNG6

SOURCE GeneReport for Unigene cluster for CACNG6 Gene:

Hs.631560

Evidence on tissue expression from TISSUES for CACNG6 Gene

  • Eye(4.1)
genes like me logo Genes that share expression patterns with CACNG6: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.36 (n)
cow
(Bos Taurus)
Mammalia CACNG6 33 34
  • 88.16 (n)
dog
(Canis familiaris)
Mammalia CACNG6 33 34
  • 86.74 (n)
rat
(Rattus norvegicus)
Mammalia Cacng6 33
  • 83.98 (n)
mouse
(Mus musculus)
Mammalia Cacng6 33 16 34
  • 83.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACNG6 34
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNG6 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacng6 33
  • 61.52 (n)
zebrafish
(Danio rerio)
Actinopterygii cacng6b 33 34
  • 57.4 (n)
cacng6a 34
  • 41 (a)
OneToMany
Species where no ortholog for CACNG6 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 CACNG6 Gene

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

Paralogs for CACNG6 Gene

Paralogs for CACNG6 Gene

(1) 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
rs1000047377 -- 53,999,673(+) GGGCC(C/T)GGCAG intron-variant, reference, missense
rs1000190008 -- 54,006,620(+) CCTCC(C/T)CCTCC intron-variant
rs1000201341 -- 54,006,233(+) CATTT(C/G)CCAGG intron-variant
rs1000240971 -- 53,991,552(+) TTACG(G/T)GTCAA intron-variant, upstream-variant-2KB
rs1000355786 -- 54,012,557(+) CTTGC(C/T)GGGAG nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2718812 CNV deletion 23290073
esv3417726 CNV insertion 20981092
esv3644778 CNV loss 21293372
nsv1057516 CNV gain 25217958
nsv1063127 CNV gain 25217958
nsv458782 CNV gain 19166990
nsv580110 CNV gain 21841781
nsv833876 CNV loss 17160897
nsv833877 CNV loss 17160897
nsv953612 CNV deletion 24416366

Variation tolerance for CACNG6 Gene

Residual Variation Intolerance Score: 81.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNG6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNG6

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

Disorders for CACNG6 Gene

Relevant External Links for CACNG6

Genetic Association Database (GAD)
CACNG6
Human Genome Epidemiology (HuGE) Navigator
CACNG6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNG6

No disorders were found for CACNG6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CACNG6 Gene

Publications for CACNG6 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 60
  2. Association of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population. (PMID: 20860846) Lee JS … Shin HD (BMC medical genetics 2010) 3 45 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Calcium channel gamma subunits provide insights into the evolution of this gene family. (PMID: 11738816) Chu PJ … Best PM (Gene 2001) 3 4 60
  5. A critical GxxxA motif in the gamma6 calcium channel subunit mediates its inhibitory effect on Cav3.1 calcium current. (PMID: 18818244) Lin Z … Best PM (The Journal of physiology 2008) 22 60

Products for CACNG6 Gene

Sources for CACNG6 Gene

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