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 part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling... See more...

Aliases for CACNG1 Gene

Aliases for CACNG1 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 1 2 3 5
  • Dihydropyridine-Sensitive L-Type, Skeletal Muscle Calcium Channel Subunit Gamma 3 4
  • Calcium Channel, Voltage-Dependent, Gamma Subunit 1 2 3
  • Voltage-Dependent Calcium Channel Gamma-1 Subunit 3 4
  • CACNLG 3 4
  • Neuronal Dihydropyridine-Sensitive Calcium Channel Gamma Subunit 3
  • L-Type Calcium Channel Gamma Polypeptide 3
  • CACNG1 5

External Ids for CACNG1 Gene

Previous HGNC Symbols for CACNG1 Gene

  • CACNLG

Previous GeneCards Identifiers for CACNG1 Gene

  • GC17M063362
  • GC17M066427
  • GC17P065458
  • GC17P065590
  • GC17P062471
  • GC17P065040
  • GC17P060429

Summaries for CACNG1 Gene

Entrez Gene Summary for CACNG1 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 part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. 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). [provided by RefSeq, Dec 2010]

GeneCards Summary for CACNG1 Gene

CACNG1 (Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 1) is a Protein Coding gene. Diseases associated with CACNG1 include Malignant Hyperthermia and Malignant Hyperthermia Susceptibility. Among its related pathways are Presenilin-Mediated Signaling and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is CACNG6.

UniProtKB/Swiss-Prot Summary for CACNG1 Gene

  • Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Regulates channel inactivation kinetics.

Gene Wiki entry for CACNG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNG1 Gene

Genomics for CACNG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CACNG1 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
GH17J067042 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 250.7 +0.8 807 5.8 JUND ZNF217 MBD2 CTBP1 CUX1 EBF1 ZNF8 PKNOX1 FOXA1 NRF1 CACNG1 lnc-HELZ-1 CACNG4 ENSG00000264421 HSALNG0118273 HELZ
GH17J067243 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 5.6 +201.1 201087 4.9 ZNF207 IKZF1 ZNF600 JUND KLF9 POLR2A CEBPA ZIC2 ZBTB10 YY1 HELZ ENSG00000266473 ENSG00000285877 HELZ-AS1 lnc-PSMD12-2 ENSG00000264421 PITPNC1 CACNG1
GH17J067053 Enhancer 1 ENCODE dbSUPER 7.7 +9.9 9851 2 PLRG1 FOXA1 MCM7 ZBTB7B RAD51 HES1 CTBP1 NBN NONO SP1 BPTF NOL11 HELZ CACNG1 HSALNG0118273
GH17J067094 Enhancer 1 Ensembl ENCODE 7.5 +52.1 52149 4.2 CEBPA ATF3 NFIC HOMEZ RXRA SMAD4 SAP130 RARA GABPB1 TEAD3 piR-61945-223 BPTF CACNG1 HELZ ENSG00000264421 lnc-HELZ-4
GH17J067110 Enhancer 0.8 ENCODE 9.4 +67.1 67135 2.4 MYC NCOR1 HES1 NBN TAL1 STAT5A HDAC2 FOXK2 ZEB2 TCF12 CACNG1 HELZ HSALNG0118276 HSALNG0118275-001 HSALNG0118275-002 lnc-PSMD12-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNG1

Top Transcription factor binding sites by QIAGEN in the CACNG1 gene promoter:
  • AML1a
  • c-Myb
  • Egr-2
  • MZF-1
  • PPAR-alpha
  • RORalpha1
  • RORalpha2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for CACNG1 Gene

Latest Assembly
chr17:67,044,554-67,056,797
(GRCh38/hg38)
Size:
12,244 bases
Orientation:
Plus strand

Previous Assembly
chr17:65,040,670-65,052,913
(GRCh37/hg19 by Entrez Gene)
Size:
12,244 bases
Orientation:
Plus strand

chr17:65,040,706-65,052,909
(GRCh37/hg19 by Ensembl)
Size:
12,204 bases
Orientation:
Plus strand

Genomic View for CACNG1 Gene

Genes around CACNG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNG1 Gene

Proteins for CACNG1 Gene

  • Protein details for CACNG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06432-CCG1_HUMAN
    Recommended name:
    Voltage-dependent calcium channel gamma-1 subunit
    Protein Accession:
    Q06432
    Secondary Accessions:
    • B2R9N3
    • Q14D59

    Protein attributes for CACNG1 Gene

    Size:
    222 amino acids
    Molecular mass:
    25028 Da
    Quaternary structure:
    • Component of a calcium channel complex consisting of a pore-forming alpha subunit (CACNA1S) and the ancillary subunits CACNB1 or CACNB2, CACNG1 and CACNA2D1. The channel complex contains alpha, beta, gamma and delta subunits in a 1:1:1:1 ratio, i.e. it contains either CACNB1 or CACNB2.

neXtProt entry for CACNG1 Gene

Post-translational modifications for CACNG1 Gene

Other Protein References for CACNG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CACNG1 Gene

Domains & Families for CACNG1 Gene

Gene Families for CACNG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for CACNG1 Gene

InterPro:
Blocks:
  • Voltage-dependent calcium channel gamma-1 subunit signature

Suggested Antigen Peptide Sequences for CACNG1 Gene

GenScript: Design optimal peptide antigens:
  • Dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma (CCG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q06432

UniProtKB/Swiss-Prot:

CCG1_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 CACNG1: view

Function for CACNG1 Gene

Molecular function for CACNG1 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Regulates channel inactivation kinetics.
GENATLAS Biochemistry:
calcium voltage-gated channel (VDCC),L type,dihydropyridine (DHP) sensitive,gamma regulatory subunit 1,30kDa,also expressed in skeletal muscle

Phenotypes From GWAS Catalog for CACNG1 Gene

Gene Ontology (GO) - Molecular Function for CACNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IEA --
GO:0005246 calcium channel regulator activity ISS --
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CACNG1: view
genes like me logo Genes that share phenotypes with CACNG1: view

Animal Models for CACNG1 Gene

MGI Knock Outs for CACNG1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNG1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNG1 Gene

Localization for CACNG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNG1 Gene

Cell membrane, sarcolemma. 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 CACNG1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CACNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0005891 voltage-gated calcium channel complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CACNG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNG1 Gene

Pathways & Interactions for CACNG1 Gene

PathCards logo

SuperPathways for CACNG1 Gene

SuperPathway Contained pathways
1 DREAM Repression and Dynorphin Expression
.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 CACNG1: view

Pathways by source for CACNG1 Gene

1 GeneGo (Thomson Reuters) pathway for CACNG1 Gene
  • Transcription CREB pathway
38 Qiagen pathways for CACNG1 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 CACNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0061337 cardiac conduction TAS --
GO:0070296 sarcoplasmic reticulum calcium ion transport IEA --
genes like me logo Genes that share ontologies with CACNG1: view

No data available for SIGNOR curated interactions for CACNG1 Gene

Drugs & Compounds for CACNG1 Gene

(17) Drugs for CACNG1 Gene - From: DrugBank, ApexBio, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lercanidipine Approved, Investigational Pharma Target, inhibitor, blocker 13
Diltiazem Approved, Investigational Pharma Target, blocker 99
Ethanol Approved Pharma Target 3544
Fluspirilene Approved, Investigational Pharma Target, inhibitor 17
Ibutilide Approved Pharma Target, activator 9

(2) ApexBio Compounds for CACNG1 Gene

Compound Action Cas Number
Lercanidipine 100427-26-7
Lercanidipine hydrochloride 132866-11-6
genes like me logo Genes that share compounds with CACNG1: view

Drug products for research

Transcripts for CACNG1 Gene

mRNA/cDNA for CACNG1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNG1

Alternative Splicing Database (ASD) splice patterns (SP) for CACNG1 Gene

No ASD Table

Relevant External Links for CACNG1 Gene

GeneLoc Exon Structure for
CACNG1

Expression for CACNG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNG1 Gene

This gene is overexpressed in Muscle - Skeletal (x49.8).

Protein differential expression in normal tissues from HIPED for CACNG1 Gene

This gene is overexpressed in Tonsil (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNG1 Gene



Protein tissue co-expression partners for CACNG1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNG1

SOURCE GeneReport for Unigene cluster for CACNG1 Gene:

Hs.147989

mRNA Expression by UniProt/SwissProt for CACNG1 Gene:

Q06432-CCG1_HUMAN
Tissue specificity: Skeletal muscle.

Evidence on tissue expression from TISSUES for CACNG1 Gene

  • Muscle(4.6)
genes like me logo Genes that share expression patterns with CACNG1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNG1 Gene

Orthologs for CACNG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CACNG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CACNG1 29 30
  • 99.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CACNG1 29 30
  • 87.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CACNG1 29 30
  • 83.63 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cacng1 29
  • 81.68 (n)
Mouse
(Mus musculus)
Mammalia Cacng1 29 16 30
  • 80.93 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CACNG1 30
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CACNG1 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CACNG1 29 30 30
  • 75.68 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia CACNG1 30
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cacng1 29
  • 71.95 (n)
Str.8246 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.15784 29
Zebrafish
(Danio rerio)
Actinopterygii LOC571193 29
  • 73.15 (n)
CACNG1 (2 of 2) 30
  • 69 (a)
OneToMany
cacng1 30
  • 65 (a)
OneToMany
Dr.5411 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8319 29
Species where no ortholog for CACNG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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 CACNG1 Gene

ENSEMBL:
Gene Tree for CACNG1 (if available)
TreeFam:
Gene Tree for CACNG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNG1: view image
Alliance of Genome Resources:
Additional Orthologs for CACNG1

Paralogs for CACNG1 Gene

Paralogs for CACNG1 Gene

(1) SIMAP similar genes for CACNG1 Gene using alignment to 1 proteins:

  • CCG1_HUMAN
genes like me logo Genes that share paralogs with CACNG1: view

Variants for CACNG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNG1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1799938 -- p.Gly196Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CACNG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CACNG1 Gene

Variant ID Type Subtype PubMed ID
nsv1120054 OTHER inversion 24896259
nsv469731 CNV loss 16826518
nsv9586 CNV loss 18304495

Variation tolerance for CACNG1 Gene

Residual Variation Intolerance Score: 43.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.89; 74.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNG1 Gene

Human Gene Mutation Database (HGMD)
CACNG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNG1
Leiden Open Variation Database (LOVD)
CACNG1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNG1 Gene

Disorders for CACNG1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CACNG1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
malignant hyperthermia
  • anesthesia related hyperthermia
malignant hyperthermia susceptibility
  • malignant hyperpyrexia
cenani-lenz syndactyly syndrome
  • clss
hypokalemic periodic paralysis, type 1
  • hokpp1
dilated cardiomyopathy
  • congestive cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CACNG1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CACNG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACNG1 Gene

Publications for CACNG1 Gene

  1. Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG), cDNA sequence, gene structure, and chromosomal location. (PMID: 8387489) Powers PA … Gregg RG (The Journal of biological chemistry 1993) 3 4 22
  2. Localization of the gamma-subunit of the skeletal muscle L-type voltage-dependent calcium channel gene (CACNLG) to human chromosome band 17q24 by in situ hybridization and identification of a polymorphic repetitive DNA sequence at the gene locus. (PMID: 8404045) Iles DE … Wieringa B (Cytogenetics and cell genetics 1993) 3 4 22
  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
  4. Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. (PMID: 8395940) Iles DE … Stewart AD (Human molecular genetics 1993) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for CACNG1 Gene

Sources for CACNG1 Gene