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-... See more...

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 3 4
  • Calcium Channel, Voltage-Dependent, Gamma Subunit 6 2 3
  • Voltage-Dependent Calcium Channel Gamma-6 Subunit 3 4
  • CACNG6 5

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 Integrin Pathway and Phase 0 - rapid depolarisation. Gene Ontology (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 Summary for CACNG6 Gene

  • Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit.

Additional gene information for CACNG6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNG6 Gene

Genomics for CACNG6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CACNG6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNG6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNG6

Top Transcription factor binding sites by QIAGEN in the CACNG6 gene promoter:
  • AhR
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • ATF6
  • C/EBPalpha
  • CBF(2)
  • CBF-A
  • YY1

Genomic Locations for CACNG6 Gene

Genomic Locations for CACNG6 Gene
chr19:53,991,149-54,012,669
(GRCh38/hg38)
Size:
21,521 bases
Orientation:
Plus strand
chr19:54,495,542-54,515,923
(GRCh37/hg19)
Size:
20,382 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:
    • Interacts with CACNA1C. Identified in a complex with the L-type calcium channel subunits CACNA1C, CACNA2D1 and either CACNB1 or CACNB2.

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

InterPro:
Blocks:
  • Claudin family signature
ProtoNet:

Suggested Antigen Peptide Sequences for CACNG6 Gene

GenScript: Design optimal peptide antigens:
  • Neuronal voltage-gated calcium channel gamma-6 subunit (CCG6_HUMAN)

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:
Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit.

Gene Ontology (GO) - Molecular Function for CACNG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity NAS 11170751
GO:0005246 calcium channel regulator activity IDA 21127204
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNG6

Clone Products

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

Cell 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 --
GO:1990454 L-type voltage-gated calcium channel complex IDA 21127204
genes like me logo Genes that share ontologies with CACNG6: view

Pathways & Interactions for CACNG6 Gene

PathCards logo

SuperPathways for CACNG6 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 CACNG6: view

Pathways by source for CACNG6 Gene

1 GeneGo (Thomson Reuters) pathway for CACNG6 Gene
  • Transcription CREB pathway
37 Qiagen pathways for CACNG6 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 CACNG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA,NAS 11170751
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0061337 cardiac conduction TAS --
GO:0070588 calcium ion transmembrane transport IEA --
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

(6) Drugs for CACNG6 Gene - From: DrugBank 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
genes like me logo Genes that share compounds with CACNG6: view

Transcripts for CACNG6 Gene

mRNA/cDNA for CACNG6 Gene

3 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 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 CACNG6

Clone Products

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

Expression for CACNG6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for CACNG6 Gene



Protein tissue co-expression partners for CACNG6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNG6

SOURCE GeneReport for Unigene cluster for CACNG6 Gene:

Hs.631560

mRNA Expression by UniProt/SwissProt for CACNG6 Gene:

Q9BXT2-CCG6_HUMAN
Tissue specificity: Detected in heart left ventricle.

Evidence on tissue expression from TISSUES for CACNG6 Gene

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

No data available for 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 30 31
  • 99.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CACNG6 30 31
  • 88.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CACNG6 30 31
  • 86.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cacng6 30
  • 83.98 (n)
Mouse
(Mus musculus)
Mammalia Cacng6 30 17 31
  • 83.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CACNG6 31
  • 68 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CACNG6 31
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cacng6 30
  • 61.52 (n)
Zebrafish
(Danio rerio)
Actinopterygii cacng6b 30 31
  • 57.4 (n)
OneToMany
cacng6a 31
  • 41 (a)
OneToMany
Species where no ortholog for CACNG6 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 CACNG6 Gene

ENSEMBL:
Gene Tree for CACNG6 (if available)
TreeFam:
Gene Tree for CACNG6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNG6: view image

Paralogs for CACNG6 Gene

Paralogs for CACNG6 Gene

(1) SIMAP similar genes for CACNG6 Gene using alignment to 3 proteins:

  • CCG6_HUMAN
  • A6NFR2_HUMAN
  • A6NP74_HUMAN
genes like me logo Genes that share paralogs with CACNG6: view

Variants for CACNG6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNG6 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs12980121 - p.Cys252Ser

Additional dbSNP identifiers (rs#s) for CACNG6 Gene

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)

Additional Variant Information 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

Additional Disease Information for CACNG6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

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
  2. Cardiac L-type calcium channel (Cav1.2) associates with gamma subunits. (PMID: 21127204) Yang L … Marx SO (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011) 3 4
  3. Association of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population. (PMID: 20860846) Lee JS … Shin HD (BMC medical genetics 2010) 3 41
  4. 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
  5. Calcium channel gamma subunits provide insights into the evolution of this gene family. (PMID: 11738816) Chu PJ … Best PM (Gene 2001) 3 4

Products for CACNG6 Gene

  • Signalway ELISA kits for CACNG6

Sources for CACNG6 Gene