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Aliases for CACNG4 Gene

Aliases for CACNG4 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 4 2 3 5
  • Neuronal Voltage-Gated Calcium Channel Gamma-4 Subunit 4
  • Calcium Channel, Voltage-Dependent, Gamma Subunit 4 2
  • Transmembrane AMPAR Regulatory Protein Gamma-4 4
  • TARP Gamma-4 4

External Ids for CACNG4 Gene

Previous GeneCards Identifiers for CACNG4 Gene

  • GC17M063387
  • GC17M066451
  • GC17P065378
  • GC17P065511
  • GC17P062391
  • GC17P064961
  • GC17P060402

Summaries for CACNG4 Gene

Entrez Gene Summary for CACNG4 Gene

  • The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. 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, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]

GeneCards Summary for CACNG4 Gene

CACNG4 (Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 4) is a Protein Coding gene. 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 CACNG8.

UniProtKB/Swiss-Prot for CACNG4 Gene

  • Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.

Gene Wiki entry for CACNG4 Gene

Additional gene information for CACNG4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNG4 Gene

Genomics for CACNG4 Gene

GeneHancer (GH) Regulatory Elements for CACNG4 Gene

Promoters and enhancers for CACNG4 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
GH17I066964 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.2 -181 0.6 GTF2F1 ZNF777 ZNF335 E2F1 POLR2A ZNF366 ZNF444 EZH2 EGR2 MAZ CACNG4 GC17P066938
GH17I066966 Promoter/Enhancer 1.5 FANTOM5 Ensembl dbSUPER 559.7 +0.7 747 0.4 MXI1 ZNF777 ZSCAN4 SIN3A EBF1 BMI1 ZBTB7B ZFHX2 CTBP1 GLIS2 CACNG4 GC17P066973
GH17I066963 Enhancer 0.9 ENCODE dbSUPER 550.8 -1.1 -1124 0.2 NCOA3 CLOCK NFIB KLF17 CEBPG BMI1 ZIC2 CTBP1 ZNF444 ZNF600 CACNG4 NOL11 HELZ GC17P066938
GH17I066965 Enhancer 0.9 ENCODE dbSUPER 550.8 -0.8 -804 0.2 KLF1 SIN3A CEBPG E2F1 ZNF366 ZNF600 KLF8 EZH2 EGR2 ZNF687 CACNG4 GC17P066938
GH17I066949 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 22.7 -12.7 -12655 5.5 HDGF PKNOX1 CLOCK FOXA2 MLX ZNF133 ARID4B NEUROD1 SIN3A YBX1 CACNG4 NOL11 HELZ CACNG5 GC17P066938
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CACNG4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNG4 gene promoter:

Genomic Locations for CACNG4 Gene

Genomic Locations for CACNG4 Gene
chr17:66,964,864-67,033,402
(GRCh38/hg38)
Size:
68,539 bases
Orientation:
Plus strand
chr17:64,960,980-65,029,518
(GRCh37/hg19)

Genomic View for CACNG4 Gene

Genes around CACNG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNG4 Gene

Proteins for CACNG4 Gene

  • Protein details for CACNG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBN1-CCG4_HUMAN
    Recommended name:
    Voltage-dependent calcium channel gamma-4 subunit
    Protein Accession:
    Q9UBN1
    Secondary Accessions:
    • B2RCK0

    Protein attributes for CACNG4 Gene

    Size:
    327 amino acids
    Molecular mass:
    36579 Da
    Quaternary structure:
    • The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG5, CACNG7 and CACNG8 (By similarity).

neXtProt entry for CACNG4 Gene

Post-translational modifications for CACNG4 Gene

  • Glycosylation at posLast=4242 and Asn45
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNG4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CACNG4 Gene

Domains & Families for CACNG4 Gene

Gene Families for CACNG4 Gene

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

Suggested Antigen Peptide Sequences for CACNG4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UBN1

UniProtKB/Swiss-Prot:

CCG4_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 CACNG4: view

Function for CACNG4 Gene

Molecular function for CACNG4 Gene

GENATLAS Biochemistry:
calcium channel,voltage-dependent,gamma subunit 4
UniProtKB/Swiss-Prot Function:
Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.

Phenotypes From GWAS Catalog for CACNG4 Gene

Gene Ontology (GO) - Molecular Function for CACNG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity IBA,TAS --
GO:0005262 calcium channel activity TAS --
GO:0016247 channel regulator activity IBA --
genes like me logo Genes that share ontologies with CACNG4: view
genes like me logo Genes that share phenotypes with CACNG4: view

Animal Models for CACNG4 Gene

MGI Knock Outs for CACNG4:

miRNA for CACNG4 Gene

miRTarBase miRNAs that target CACNG4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNG4 Gene

Localization for CACNG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNG4 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 CACNG4 gene
Compartment Confidence
plasma membrane 5
extracellular 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CACNG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10613843
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 CACNG4: view

Pathways & Interactions for CACNG4 Gene

genes like me logo Genes that share pathways with CACNG4: view

Gene Ontology (GO) - Biological Process for CACNG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 10613843
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0019226 transmission of nerve impulse IBA,IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with CACNG4: view

No data available for SIGNOR curated interactions for CACNG4 Gene

Drugs & Compounds for CACNG4 Gene

(2) Drugs for CACNG4 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Aniracetam Experimental Pharma Positive, Allosteric regulator Nootropic drug for senile dementia 0

(1) ApexBio Compounds for CACNG4 Gene

Compound Action Cas Number
Aniracetam Nootropic drug for senile dementia 72432-10-1
genes like me logo Genes that share compounds with CACNG4: view

Drug Products

Transcripts for CACNG4 Gene

mRNA/cDNA for CACNG4 Gene

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

Unigene Clusters for CACNG4 Gene

Calcium channel, voltage-dependent, gamma subunit 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNG4 Gene

No ASD Table

Relevant External Links for CACNG4 Gene

GeneLoc Exon Structure for
CACNG4
ECgene alternative splicing isoforms for
CACNG4

Expression for CACNG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CACNG4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNG4 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x9.5), Brain - Putamen (basal ganglia) (x7.2), Brain - Caudate (basal ganglia) (x7.1), and Brain - Amygdala (x4.2).

Protein differential expression in normal tissues from HIPED for CACNG4 Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNG4 Gene



Protein tissue co-expression partners for CACNG4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CACNG4 Gene:

CACNG4

SOURCE GeneReport for Unigene cluster for CACNG4 Gene:

Hs.514423

Evidence on tissue expression from TISSUES for CACNG4 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with CACNG4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNG4 Gene

Orthologs for CACNG4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CACNG4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNG4 33 34
  • 99.87 (n)
mouse
(Mus musculus)
Mammalia Cacng4 33 16 34
  • 92.25 (n)
oppossum
(Monodelphis domestica)
Mammalia CACNG4 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacng4 33
  • 91.85 (n)
dog
(Canis familiaris)
Mammalia CACNG4 33
  • 91.08 (n)
cow
(Bos Taurus)
Mammalia CACNG4 33 34
  • 90.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACNG4 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNG4 33 34 34
  • 79.51 (n)
lizard
(Anolis carolinensis)
Reptilia CACNG4 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486554 33
  • 77.04 (n)
zebrafish
(Danio rerio)
Actinopterygii cacng4 34
  • 75 (a)
OneToMany
LOC794222 33
  • 71.67 (n)
CACNG4 (1 of 2) 34
  • 59 (a)
OneToMany
Species where no ortholog for CACNG4 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)
  • 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)
  • 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 CACNG4 Gene

ENSEMBL:
Gene Tree for CACNG4 (if available)
TreeFam:
Gene Tree for CACNG4 (if available)

Paralogs for CACNG4 Gene

Paralogs for CACNG4 Gene

(4) SIMAP similar genes for CACNG4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CACNG4: view

Variants for CACNG4 Gene

Sequence variations from dbSNP and Humsavar for CACNG4 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000079560 -- 66,996,568(+) A/G intron_variant
rs1000088783 -- 67,033,493(+) C/T downstream_transcript_variant
rs1000118250 -- 66,986,411(+) G/A/C intron_variant
rs1000124109 -- 67,013,541(+) A/G intron_variant
rs1000161237 -- 66,991,809(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CACNG4 Gene

Variant ID Type Subtype PubMed ID
dgv1797e59 CNV duplication 20981092
esv1634500 CNV deletion 17803354
esv25859 CNV gain 19812545
esv2664511 CNV deletion 23128226
esv2669263 CNV deletion 23128226
esv27303 CNV loss 19812545
esv3554668 CNV deletion 23714750
esv3641076 CNV loss 21293372
esv3641077 CNV loss 21293372
nsv1120054 OTHER inversion 24896259
nsv469731 CNV loss 16826518
nsv474996 CNV novel sequence insertion 20440878
nsv575900 CNV loss 21841781
nsv828090 CNV loss 20364138
nsv833521 CNV loss 17160897

Variation tolerance for CACNG4 Gene

Residual Variation Intolerance Score: 23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNG4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNG4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNG4 Gene

Disorders for CACNG4 Gene

Additional Disease Information for CACNG4

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

No disorders were found for CACNG4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CACNG4 Gene

Publications for CACNG4 Gene

  1. Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication. (PMID: 10613843) Burgess DL … Noebels JL (Genome research 1999) 2 3 4 58
  2. Analysis of multiple candidate genes in association with phenotypes of multiple sclerosis. (PMID: 20378664) Sombekke MH … Uitdehaag BM (Multiple sclerosis (Houndmills, Basingstoke, England) 2010) 3 44 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Hippocampal AMPA receptor gating controlled by both TARP and cornichon proteins. (PMID: 21172611) Kato AS … Bredt DS (Neuron 2010) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for CACNG4 Gene

Sources for CACNG4 Gene

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