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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
  • CACNLG 3 4
  • Neuronal Dihydropyridine-Sensitive Calcium Channel Gamma Subunit 3
  • Voltage-Dependent Calcium Channel Gamma-1 Subunit 3
  • L-Type Calcium Channel Gamma Polypeptide 3

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 Cardiac conduction and NFAT and Cardiac Hypertrophy. 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 for CACNG1 Gene

  • This protein is a subunit of the dihydropyridine (DHP) sensitive calcium channel. Plays a role in excitation-contraction coupling. The skeletal muscle DHP-sensitive Ca(2+) channel may function only as a multiple subunit complex.

Gene Wiki entry for CACNG1 Gene

Additional gene information for CACNG1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNG1 Gene

Genomics for CACNG1 Gene

GeneHancer (GH) Regulatory Elements for CACNG1 Gene

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
GH17I067042 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 550.8 +0.8 825 5.8 HDGF BCOR CTCF PKNOX1 KLF1 FOXA2 EBF1 YBX1 RAD21 CTBP1 CACNG1 CACNG4 ENSG00000264421 GC17M067071
GH17I067243 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 5.6 +201.2 201193 4.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B HELZ LOC101928021 ENSG00000264421 PITPNC1 CACNG1
GH17I067053 Enhancer 1 ENCODE dbSUPER 7.7 +9.9 9869 2 HDGF PKNOX1 NFIB NFRKB ZSCAN4 PLRG1 BMI1 ZBTB7B TCF12 ZNF207 NOL11 HELZ BPTF CACNG1 GC17M067071
GH17I067110 Enhancer 0.8 ENCODE 9.4 +67.2 67153 2.4 HDAC1 ZBTB40 TCF12 ZNF766 SCRT2 ATF7 ZEB2 NR2F2 ATF4 SMARCA4 CACNG1 HELZ GC17M067096 GC17M067071
GH17I067094 Enhancer 1 Ensembl ENCODE 7.5 +51.0 51040 1.9 RARA SMARCC2 ATF7 FOS CEBPB ATF4 NFIC SMARCA4 RCOR2 CEBPA CACNG1 HELZ ENSG00000264421 GC17M067071 GC17M067096
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CACNG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNG1 gene promoter:

Genomic Locations for CACNG1 Gene

Genomic Locations for CACNG1 Gene
chr17:67,044,536-67,056,797
(GRCh38/hg38)
Size:
12,262 bases
Orientation:
Plus strand
chr17:65,040,652-65,052,913
(GRCh37/hg19)

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:
    • The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma.

neXtProt entry for CACNG1 Gene

Post-translational modifications for CACNG1 Gene

  • Glycosylation at posLast=4343 and Asn79

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

Suggested Antigen Peptide Sequences for CACNG1 Gene

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

GENATLAS Biochemistry:
calcium voltage-gated channel (VDCC),L type,dihydropyridine (DHP) sensitive,gamma regulatory subunit 1,30kDa,also expressed in skeletal muscle
UniProtKB/Swiss-Prot Function:
This protein is a subunit of the dihydropyridine (DHP) sensitive calcium channel. Plays a role in excitation-contraction coupling. The skeletal muscle DHP-sensitive Ca(2+) channel may function only as a multiple subunit complex.

Phenotypes From GWAS Catalog for CACNG1 Gene

Gene Ontology (GO) - Molecular Function for CACNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity IEA,TAS --
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:

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

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 CACNG1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CACNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IEA,TAS --
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

genes like me logo Genes that share pathways with CACNG1: view

Gene Ontology (GO) - Biological Process for CACNG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8387489
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006936 muscle contraction TAS 8387489
GO:0034765 regulation of ion transmembrane 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

(14) 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 12
Diltiazem Approved, Investigational Pharma Channel blocker, Target, inhibitor, blocker 78
Nitrendipine Approved, Investigational Pharma Inhibition, Pore Blocker, Target, inhibitor, blocker Calcium channel blocker 5
Ethanol Approved Pharma Target 2326
Fluspirilene Approved, Investigational Pharma Antagonist, Target, inhibitor 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

Transcripts for CACNG1 Gene

mRNA/cDNA for CACNG1 Gene

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

Unigene Clusters for CACNG1 Gene

Calcium channel, voltage-dependent, gamma subunit 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for CACNG1 Gene

GeneLoc Exon Structure for
CACNG1
ECgene alternative splicing isoforms for
CACNG1

Expression for CACNG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for CACNG1 Gene



Protein tissue co-expression partners for CACNG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CACNG1 Gene:

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

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 33 34
  • 99.85 (n)
dog
(Canis familiaris)
Mammalia CACNG1 33 34
  • 87.39 (n)
cow
(Bos Taurus)
Mammalia CACNG1 33 34
  • 83.63 (n)
rat
(Rattus norvegicus)
Mammalia Cacng1 33
  • 81.68 (n)
mouse
(Mus musculus)
Mammalia Cacng1 33 16 34
  • 80.93 (n)
oppossum
(Monodelphis domestica)
Mammalia CACNG1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNG1 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNG1 33 34 34
  • 75.68 (n)
lizard
(Anolis carolinensis)
Reptilia CACNG1 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacng1 33
  • 71.95 (n)
Str.8246 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15784 33
zebrafish
(Danio rerio)
Actinopterygii LOC571193 33
  • 73.15 (n)
CACNG1 (2 of 2) 34
  • 69 (a)
OneToMany
cacng1 34
  • 65 (a)
OneToMany
Dr.5411 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8319 33
Species where no ortholog for CACNG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 CACNG1 Gene

ENSEMBL:
Gene Tree for CACNG1 (if available)
TreeFam:
Gene Tree for CACNG1 (if available)

Paralogs for CACNG1 Gene

Paralogs for CACNG1 Gene

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

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

Variants for CACNG1 Gene

Sequence variations from dbSNP and Humsavar for CACNG1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000348210 -- 67,054,376(+) C/T intron_variant
rs1000676404 -- 67,049,264(+) C/T intron_variant
rs1000944843 -- 67,044,208(+) C/T upstream_transcript_variant
rs1000956594 -- 67,055,331(+) G/A intron_variant
rs1001113253 -- 67,049,921(+) T/G intron_variant

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

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

Disorders for CACNG1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CACNG1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
malignant hyperthermia
  • hyperpyrexia, malignant
malignant hyperthermia susceptibility
  • malignant hyperpyrexia due to anesthesia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CACNG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 58
  2. 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 58
  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 58
  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 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for CACNG1 Gene

Sources for CACNG1 Gene

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