The protein encoded by this gene is a type II 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 I TARP and a calcium channel gamma subun... See more...

Aliases for CACNG5 Gene

Aliases for CACNG5 Gene

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

External Ids for CACNG5 Gene

Previous GeneCards Identifiers for CACNG5 Gene

  • GC17M063533
  • GC17M066599
  • GC17P065290
  • GC17P065423
  • GC17P062303
  • GC17P064873
  • GC17P060262

Summaries for CACNG5 Gene

Entrez Gene Summary for CACNG5 Gene

  • The protein encoded by this gene is a type II 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 I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010]

GeneCards Summary for CACNG5 Gene

CACNG5 (Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 5) is a Protein Coding gene. Diseases associated with CACNG5 include Spinal Cord Ependymoma and Spinal Cord Glioma. Among its related pathways are Oxytocin signaling pathway and CCR5 Pathway in Macrophages. Gene Ontology (GO) annotations related to this gene include voltage-gated calcium channel activity and ion transmembrane transporter activity. An important paralog of this gene is CACNG7.

UniProtKB/Swiss-Prot Summary for CACNG5 Gene

  • Regulates the gating properties of AMPA-selective glutamate receptors (AMPARs). Modulates their gating properties by accelerating their rates of activation, deactivation and desensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity for GRIA1, GRIA4 and the long isoform of GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity).

Additional gene information for CACNG5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNG5 Gene

Genomics for CACNG5 Gene

GeneHancer (GH) Regulatory Elements for CACNG5 Gene

Promoters and enhancers for CACNG5 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
GH17J066834 Promoter 0.8 Ensembl 500.7 0.0 -16 0.6 HDAC2 KLF9 ZNF777 ZNF513 ZMYM3 SCRT1 ADNP ZNF664 GLIS1 ZNF398 CACNG5 lnc-HELZ-8
GH17J066877 Promoter 0.4 EPDnew 510.9 +42.2 42161 0.1 ZNF24 CACNG5 MIR634 RNA5SP446 piR-38352-251
GH17J066949 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +117.1 117092 5.5 ZNF217 CTCF ZSCAN5C TCF12 JUND FOS ZNF639 ZIC2 REST CLOCK HSALNG0118259 CACNG4 CACNG5 piR-50444-188
GH17J066943 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.8 +109.8 109790 3 RFX1 CTBP1 EZH2 ZNF592 CTCF ZNF207 MAFK NEUROD1 PBX2 FOSL1 piR-50444-188 CACNG5 MIR634 CACNG4 HSALNG0118259
GH17J066903 Enhancer 1 Ensembl ENCODE 10.8 +70.4 70350 3.3 ZNF217 CTCF TCF12 TEAD4 REST RFX1 CHD1 RAD21 SKI MYC CACNG5 APOH PRKCA RNA5SP446 piR-50444-188
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNG5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNG5

Top Transcription factor binding sites by QIAGEN in the CACNG5 gene promoter:
  • Brachyury
  • C/EBPbeta
  • Cdc5
  • Evi-1
  • IRF-1
  • Lmo2
  • NF-kappaB1
  • RORalpha2
  • S8
  • ZIC2

Genomic Locations for CACNG5 Gene

Genomic Locations for CACNG5 Gene
chr17:66,835,117-66,887,296
(GRCh38/hg38)
Size:
52,180 bases
Orientation:
Plus strand
chr17:64,831,235-64,881,603
(GRCh37/hg19)
Size:
50,369 bases
Orientation:
Plus strand

Genomic View for CACNG5 Gene

Genes around CACNG5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNG5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNG5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNG5 Gene

Proteins for CACNG5 Gene

  • Protein details for CACNG5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UF02-CCG5_HUMAN
    Recommended name:
    Voltage-dependent calcium channel gamma-5 subunit
    Protein Accession:
    Q9UF02
    Secondary Accessions:
    • A8K2A6
    • Q547R3
    • Q8WXS7
    • Q9UHM3

    Protein attributes for CACNG5 Gene

    Size:
    275 amino acids
    Molecular mass:
    30903 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, CACNG4, CACNG7 and CACNG8. Interacts with GRIA1, GRIA2, GRIA3 and GRIA4 (By similarity).

neXtProt entry for CACNG5 Gene

Post-translational modifications for CACNG5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CACNG5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CACNG5 Gene

Domains & Families for CACNG5 Gene

Gene Families for CACNG5 Gene

Protein Domains for CACNG5 Gene

Blocks:
  • Voltage-dependent calcium channel gamma-5 subunit signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CACNG5 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane AMPAR regulatory protein gamma-5 (CCG5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UF02

UniProtKB/Swiss-Prot:

CCG5_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 CACNG5: view

Function for CACNG5 Gene

Molecular function for CACNG5 Gene

UniProtKB/Swiss-Prot Function:
Regulates the gating properties of AMPA-selective glutamate receptors (AMPARs). Modulates their gating properties by accelerating their rates of activation, deactivation and desensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity for GRIA1, GRIA4 and the long isoform of GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity).
GENATLAS Biochemistry:
calcium channel,voltage-dependent,gamma subunit 5

Phenotypes From GWAS Catalog for CACNG5 Gene

Gene Ontology (GO) - Molecular Function for CACNG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity TAS 10613843
GO:0005262 calcium channel activity IEA --
GO:0015075 ion transmembrane transporter activity TAS 10613843
genes like me logo Genes that share ontologies with CACNG5: view
genes like me logo Genes that share phenotypes with CACNG5: view

Animal Model Products

CRISPR Products

miRNA for CACNG5 Gene

miRTarBase miRNAs that target CACNG5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CACNG5 Gene

Localization for CACNG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNG5 Gene

Membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic density membrane.

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 CACNG5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CACNG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0014069 postsynaptic density ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with CACNG5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNG5 Gene

Pathways & Interactions for CACNG5 Gene

PathCards logo

SuperPathways for CACNG5 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 CACNG5: view

Pathways by source for CACNG5 Gene

1 GeneGo (Thomson Reuters) pathway for CACNG5 Gene
  • Transcription CREB pathway
37 Qiagen pathways for CACNG5 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 CACNG5 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:0070588 calcium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with CACNG5: view

No data available for SIGNOR curated interactions for CACNG5 Gene

Drugs & Compounds for CACNG5 Gene

(6) Drugs for CACNG5 Gene - From: DrugBank, ApexBio, 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
Spironolactone Approved Pharma Antagonist, Target, inhibitor Mineralocorticoid receptor antagonist 212
Ergocalciferol Approved Nutra Target, inducer 1534
Calcium Approved Nutra 7884

(1) ApexBio Compounds for CACNG5 Gene

Compound Action Cas Number
Aniracetam Nootropic drug for senile dementia 72432-10-1
genes like me logo Genes that share compounds with CACNG5: view

Drug Products

Transcripts for CACNG5 Gene

mRNA/cDNA for CACNG5 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNG5 Gene

No ASD Table

Relevant External Links for CACNG5 Gene

GeneLoc Exon Structure for
CACNG5

Expression for CACNG5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNG5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNG5 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.5), Brain - Anterior cingulate cortex (BA24) (x5.5), Brain - Nucleus accumbens (basal ganglia) (x4.7), Brain - Putamen (basal ganglia) (x4.6), Brain - Hypothalamus (x4.4), and Brain - Amygdala (x4.2).

Protein differential expression in normal tissues from HIPED for CACNG5 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNG5 Gene



Protein tissue co-expression partners for CACNG5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNG5

SOURCE GeneReport for Unigene cluster for CACNG5 Gene:

Hs.278907

Evidence on tissue expression from TISSUES for CACNG5 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with CACNG5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNG5 Gene

Orthologs for CACNG5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CACNG5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNG5 31 30
  • 99.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CACNG5 31 30
  • 92.24 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cacng5 17 31 30
  • 89.45 (n)
rat
(Rattus norvegicus)
Mammalia Cacng5 30
  • 89.45 (n)
cow
(Bos Taurus)
Mammalia CACNG5 31 30
  • 88 (n)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 92 (a)
OneToMany
-- 31
  • 92 (a)
OneToMany
LOC100859614 30
  • 83.15 (n)
lizard
(Anolis carolinensis)
Reptilia CACNG5 31
  • 83 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cacng5b 31
  • 90 (a)
OneToMany
cacng5a 31
  • 86 (a)
OneToMany
LOC100331116 30
  • 80.48 (n)
Species where no ortholog for CACNG5 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CACNG5 Gene

ENSEMBL:
Gene Tree for CACNG5 (if available)
TreeFam:
Gene Tree for CACNG5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNG5: view image

Paralogs for CACNG5 Gene

Paralogs for CACNG5 Gene

(3) SIMAP similar genes for CACNG5 Gene using alignment to 1 proteins:

  • CCG5_HUMAN
genes like me logo Genes that share paralogs with CACNG5: view

Variants for CACNG5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNG5 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
719521 Benign: not provided 66,877,389(+) T/C SYNONYMOUS_VARIANT
rs773990201 Uncertain Significance: not provided 66,877,525(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CACNG5 Gene

Structural Variations from Database of Genomic Variants (DGV) for CACNG5 Gene

Variant ID Type Subtype PubMed ID
nsv1120054 OTHER inversion 24896259
nsv833521 CNV loss 17160897

Variation tolerance for CACNG5 Gene

Residual Variation Intolerance Score: 51.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNG5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNG5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNG5 Gene

Disorders for CACNG5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CACNG5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spinal cord ependymoma
  • ependymal neoplasm of the spinal cord
spinal cord glioma
  • glial neoplasm spinal cord
bipolar disorder
  • major affective disorder 1
spinal cancer
  • spinal cord cancer
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CACNG5

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 CACNG5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACNG5 Gene

Publications for CACNG5 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 54
  2. Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes. (PMID: 21057379) Curtis D … Gurling HM (Psychiatric genetics 2011) 3 41 54
  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 54
  4. The novel product of a five-exon stargazin-related gene abolishes Ca(V)2.2 calcium channel expression. (PMID: 11927536) Moss FJ … Dolphin AC (The EMBO journal 2002) 3 4 54
  5. Calcium channel gamma subunits provide insights into the evolution of this gene family. (PMID: 11738816) Chu PJ … Best PM (Gene 2001) 3 4 54

Products for CACNG5 Gene

Sources for CACNG5 Gene