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 CACNG7 Gene

Aliases for CACNG7 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7 2 3 5
  • Neuronal Voltage-Gated Calcium Channel Gamma-7 Subunit 3 4
  • Calcium Channel, Voltage-Dependent, Gamma Subunit 7 2 3
  • Voltage-Dependent Calcium Channel Gamma-7 Subunit 3 4
  • Transmembrane AMPAR Regulatory Protein Gamma-7 3 4
  • TARP Gamma-7 3 4
  • CACNG7 5

External Ids for CACNG7 Gene

Previous GeneCards Identifiers for CACNG7 Gene

  • GC19P055061
  • GC19P054840
  • GC19P059093
  • GC19P059107
  • GC19P054412
  • GC19P050735

Summaries for CACNG7 Gene

Entrez Gene Summary for CACNG7 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. [provided by RefSeq, Dec 2010]

GeneCards Summary for CACNG7 Gene

CACNG7 (Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7) is a Protein Coding gene. Diseases associated with CACNG7 include Isolated Growth Hormone Deficiency, Type Ib and Alacrima, Achalasia, And Mental Retardation Syndrome. 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 CACNG5.

UniProtKB/Swiss-Prot Summary for CACNG7 Gene

  • Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (PubMed:21127204). 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. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2 (PubMed:21172611).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNG7 Gene

Genomics for CACNG7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CACNG7 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 CACNG7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNG7

Top Transcription factor binding sites by QIAGEN in the CACNG7 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • HSF1short
  • NRSF form 1
  • NRSF form 2
  • POU2F1
  • POU2F1a

Genomic Locations for CACNG7 Gene

Latest Assembly
chr19:53,909,278-53,943,950
(GRCh38/hg38)
Size:
34,673 bases
Orientation:
Plus strand

Previous Assembly
chr19:54,412,532-54,447,204
(GRCh37/hg19 by Entrez Gene)
Size:
34,673 bases
Orientation:
Plus strand

chr19:54,412,589-54,447,195
(GRCh37/hg19 by Ensembl)
Size:
34,607 bases
Orientation:
Plus strand

Genomic View for CACNG7 Gene

Genes around CACNG7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNG7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNG7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNG7 Gene

Proteins for CACNG7 Gene

  • Protein details for CACNG7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62955-CCG7_HUMAN
    Recommended name:
    Voltage-dependent calcium channel gamma-7 subunit
    Protein Accession:
    P62955
    Secondary Accessions:
    • Q52LL8
    • Q8VBX3
    • Q8WXS6
    • Q9BXT1

    Protein attributes for CACNG7 Gene

    Size:
    275 amino acids
    Molecular mass:
    31003 Da
    Quaternary structure:
    • Interacts with CACNA1C. Identified in a complex with the L-type calcium channel subunits CACNA1C, CACNA2D1 and either CACNB1 or CACNB2 (PubMed:21127204). Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs), such as GRIA1 and GRIA2 (PubMed:21172611).

neXtProt entry for CACNG7 Gene

Post-translational modifications for CACNG7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CACNG7 Gene

No data available for DME Specific Peptides for CACNG7 Gene

Domains & Families for CACNG7 Gene

Gene Families for CACNG7 Gene

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

Protein Domains for CACNG7 Gene

Suggested Antigen Peptide Sequences for CACNG7 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane AMPAR regulatory protein gamma-7 (CCG7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P62955

UniProtKB/Swiss-Prot:

CCG7_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 CACNG7: view

Function for CACNG7 Gene

Molecular function for CACNG7 Gene

UniProtKB/Swiss-Prot Function:
Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (PubMed:21127204). 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. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2 (PubMed:21172611).

Phenotypes From GWAS Catalog for CACNG7 Gene

Gene Ontology (GO) - Molecular Function for CACNG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IBA,NAS 11170751
GO:0005246 calcium channel regulator activity IDA 21127204
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with CACNG7: view
genes like me logo Genes that share phenotypes with CACNG7: view

Animal Models for CACNG7 Gene

MGI Knock Outs for CACNG7:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNG7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNG7 Gene

Localization for CACNG7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNG7 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 CACNG7 gene
Compartment Confidence
plasma membrane 5
endosome 2
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for CACNG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005769 early endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex NAS 11170751
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CACNG7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNG7 Gene

Pathways & Interactions for CACNG7 Gene

PathCards logo

SuperPathways for CACNG7 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 CACNG7: view

Pathways by source for CACNG7 Gene

1 GeneGo (Thomson Reuters) pathway for CACNG7 Gene
  • Transcription CREB pathway
37 Qiagen pathways for CACNG7 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 CACNG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA,NAS 11170751
GO:0019226 transmission of nerve impulse IBA 21873635
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0043488 regulation of mRNA stability IEA --
genes like me logo Genes that share ontologies with CACNG7: view

No data available for SIGNOR curated interactions for CACNG7 Gene

Drugs & Compounds for CACNG7 Gene

(7) Drugs for CACNG7 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
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor, activator 2
Spironolactone Approved Pharma Target, inhibitor Mineralocorticoid receptor antagonist 240
Ergocalciferol Approved Nutra Target, inducer 434

(1) ApexBio Compounds for CACNG7 Gene

Compound Action Cas Number
Aniracetam Nootropic drug for senile dementia 72432-10-1
genes like me logo Genes that share compounds with CACNG7: view

Drug products for research

Transcripts for CACNG7 Gene

mRNA/cDNA for CACNG7 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 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 CACNG7

Alternative Splicing Database (ASD) splice patterns (SP) for CACNG7 Gene

No ASD Table

Relevant External Links for CACNG7 Gene

GeneLoc Exon Structure for
CACNG7

Expression for CACNG7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNG7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNG7 Gene

This gene is overexpressed in Brain - Cortex (x6.3), Brain - Frontal Cortex (BA9) (x5.6), Brain - Anterior cingulate cortex (BA24) (x5.0), Brain - Amygdala (x4.7), Brain - Hippocampus (x4.7), and Brain - Cerebellum (x4.3).

Protein differential expression in normal tissues from HIPED for CACNG7 Gene

This gene is overexpressed in Frontal cortex (53.7) and Retina (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNG7 Gene



Protein tissue co-expression partners for CACNG7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNG7

SOURCE GeneReport for Unigene cluster for CACNG7 Gene:

Hs.631597

mRNA Expression by UniProt/SwissProt for CACNG7 Gene:

P62955-CCG7_HUMAN
Tissue specificity: Detected in heart left ventricle (PubMed:21127204). Widely expressed.

Evidence on tissue expression from TISSUES for CACNG7 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with CACNG7: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNG7 Gene

Orthologs for CACNG7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CACNG7 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia -- 30
  • 100 (a)
OneToMany
-- 30
  • 96 (a)
OneToMany
LOC611509 29
  • 93.09 (n)
Chimpanzee
(Pan troglodytes)
Mammalia CACNG7 29 30
  • 99.88 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CACNG7 30
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CACNG7 29 30
  • 93.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cacng7 29 16 30
  • 90.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cacng7 29
  • 90.55 (n)
Oppossum
(Monodelphis domestica)
Mammalia CACNG7 30
  • 87 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CACNG7 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cacng7 29
  • 79.15 (n)
Zebrafish
(Danio rerio)
Actinopterygii cacng7b 29 30
  • 72.5 (n)
OneToMany
cacng7a 30
  • 67 (a)
OneToMany
Species where no ortholog for CACNG7 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)
  • 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 CACNG7 Gene

ENSEMBL:
Gene Tree for CACNG7 (if available)
TreeFam:
Gene Tree for CACNG7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNG7: view image
Alliance of Genome Resources:
Additional Orthologs for CACNG7

Paralogs for CACNG7 Gene

Paralogs for CACNG7 Gene

(1) SIMAP similar genes for CACNG7 Gene using alignment to 1 proteins:

  • CCG7_HUMAN
genes like me logo Genes that share paralogs with CACNG7: view

Variants for CACNG7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNG7 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
996577 Likely Pathogenic: Intellectual disability 53,942,249(+) A/G
NM_031896.5(CACNG7):c.784A>G (p.Ile262Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CACNG7 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 CACNG7 Gene

Variant ID Type Subtype PubMed ID
esv1077595 CNV deletion 17803354
esv1132464 CNV deletion 17803354
esv1297128 CNV deletion 17803354
esv1328421 CNV deletion 17803354
esv1583311 CNV deletion 17803354
esv1716904 CNV deletion 17803354
esv1776456 CNV insertion 17803354
esv24802 CNV gain+loss 19812545
esv2669842 CNV deletion 23128226
esv2718812 CNV deletion 23290073
esv3368805 CNV duplication 20981092
nsv1063127 CNV gain 25217958
nsv1064558 CNV gain 25217958
nsv1115550 CNV duplication 24896259
nsv1127698 CNV deletion 24896259
nsv1128784 CNV duplication 24896259
nsv1144880 CNV deletion 24896259
nsv1153256 CNV duplication 26484159
nsv2541 CNV deletion 18451855
nsv821044 CNV deletion 20802225
nsv833876 CNV loss 17160897

Variation tolerance for CACNG7 Gene

Residual Variation Intolerance Score: 29.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNG7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNG7
Leiden Open Variation Database (LOVD)
CACNG7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNG7 Gene

Disorders for CACNG7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CACNG7 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CACNG7

genes like me logo Genes that share disorders with CACNG7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CACNG7 Gene

Publications for CACNG7 Gene

  1. 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 22
  2. 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
  3. 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
  4. Hippocampal AMPA receptor gating controlled by both TARP and cornichon proteins. (PMID: 21172611) Kato AS … Bredt DS (Neuron 2010) 3 4
  5. 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

Products for CACNG7 Gene

Sources for CACNG7 Gene