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. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in ex... See more...

Aliases for CACNG2 Gene

Aliases for CACNG2 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2 2 3 5
  • Neuronal Voltage-Gated Calcium Channel Gamma-2 Subunit 3 4
  • Voltage-Dependent Calcium Channel Gamma-2 Subunit 3 4
  • Transmembrane AMPAR Regulatory Protein Gamma-2 3 4
  • TARP Gamma-2 3 4
  • Stargazin 2 3
  • Calcium Channel, Voltage-Dependent, Gamma Subunit 2 2
  • MGC138502 2
  • MGC138504 2
  • CACNG2 5
  • MRD10 3

External Ids for CACNG2 Gene

Previous GeneCards Identifiers for CACNG2 Gene

  • GC22M033574
  • GC22M035203
  • GC22M035284
  • GC22M036959
  • GC22M019928

Summaries for CACNG2 Gene

Entrez Gene Summary for CACNG2 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. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017]

GeneCards Summary for CACNG2 Gene

CACNG2 (Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2) is a Protein Coding gene. Diseases associated with CACNG2 include Mental Retardation, Autosomal Dominant 10 and Autosomal Dominant Non-Syndromic Intellectual Disability. 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 and ionotropic glutamate receptor binding. An important paralog of this gene is CACNG3.

UniProtKB/Swiss-Prot Summary for CACNG2 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. 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 CACNG2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNG2 Gene

Genomics for CACNG2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CACNG2 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
GH22J036703 Promoter 1.3 EPDnew Ensembl 250.7 +0.4 351 1.2 EZH2 ZNF600 ZIC2 REST SIN3A SAP130 ZNF433 KLF16 EHMT2 SMARCE1 ENSG00000234688 CACNG2 LOC105373021 IFT27 EIF3D
GH22J036642 Enhancer 1.2 FANTOM5 Ensembl ENCODE 12.6 +60.4 60351 3.2 NFIC ZIC2 CHD4 CEBPB REST ZNF639 ZEB1 HOMEZ SIN3A KMT2B ENSG00000234688 CACNG2 ENSG00000229971 PVALB ENSG00000234979 NCF4 NCF4-AS1 APOL3 lnc-EIF3D-3 RF00017-3455
GH22J036732 Enhancer 0.3 Ensembl 11.8 -28.5 -28549 0.6 ZNF623 CACNG2 ENSG00000234688 ENSG00000234979 PVALB ENSG00000229971 IL2RB ENSG00000231467 TMPRSS6 TEX33 HSALNG0135244-002
GH22J036649 Enhancer 0.5 FANTOM5 Ensembl 1.5 +54.4 54351 2 BHLHE40 APOL3 IFT27 CACNG2 RF00017-3455 lnc-EIF3D-3 EIF3D
GH22J036666 Enhancer 0.2 FANTOM5 2.8 +37.0 37007 0.2 ENSG00000229971 CACNG2 RF00017-3455 lnc-EIF3D-3 EIF3D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNG2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNG2

Top Transcription factor binding sites by QIAGEN in the CACNG2 gene promoter:
  • AML1a
  • AP-1
  • AREB6
  • ATF-2
  • Bach1
  • Nkx2-5
  • Pax-4a
  • POU2F1
  • POU2F1a
  • RelA

Genomic Locations for CACNG2 Gene

Latest Assembly
chr22:36,560,857-36,703,752
(GRCh38/hg38)
Size:
142,896 bases
Orientation:
Minus strand

Previous Assembly
chr22:36,956,904-37,099,797
(GRCh37/hg19 by Entrez Gene)
Size:
142,894 bases
Orientation:
Minus strand

chr22:36,959,968-37,099,603
(GRCh37/hg19 by Ensembl)
Size:
139,636 bases
Orientation:
Minus strand

Genomic View for CACNG2 Gene

Genes around CACNG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNG2 Gene

Proteins for CACNG2 Gene

  • Protein details for CACNG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y698-CCG2_HUMAN
    Recommended name:
    Voltage-dependent calcium channel gamma-2 subunit
    Protein Accession:
    Q9Y698
    Secondary Accessions:
    • Q2M1M1
    • Q5TGT3
    • Q9UGZ7

    Protein attributes for CACNG2 Gene

    Size:
    323 amino acids
    Molecular mass:
    35966 Da
    Quaternary structure:
    • The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Interacts with the PDZ domains of DLG4/PSD-95 and DLG1/SAP97. May interact with GOPC (By similarity). Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8 (By similarity). Interacts with GRIA1 and GRIA2 (PubMed:20805473). Interacts with MPP2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for CACNG2 Gene

neXtProt entry for CACNG2 Gene

Post-translational modifications for CACNG2 Gene

  • Phosphorylation of Thr-321 impairs interaction with DLG1 and DLG4.
  • Glycosylation at Asn48
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNG2 Gene

No data available for DME Specific Peptides for CACNG2 Gene

Domains & Families for CACNG2 Gene

Gene Families for CACNG2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for CACNG2 Gene

InterPro:
Blocks:
  • Claudin family signature
  • Voltage-dependent calcium channel gamma-2 subunit signature

Suggested Antigen Peptide Sequences for CACNG2 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane AMPAR regulatory protein gamma-2 (CCG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y698

UniProtKB/Swiss-Prot:

CCG2_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 CACNG2: view

Function for CACNG2 Gene

Molecular function for CACNG2 Gene

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. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.
GENATLAS Biochemistry:
calcium voltage-gated channel (VDCC),L type,dihydropyridine (DPH) sensitive,gamma regulatory subunit 2,neuronal

Phenotypes From GWAS Catalog for CACNG2 Gene

Gene Ontology (GO) - Molecular Function for CACNG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity TAS,IBA 21873635
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IPI 20805473
GO:0016247 channel regulator activity IBA 21873635
genes like me logo Genes that share ontologies with CACNG2: view
genes like me logo Genes that share phenotypes with CACNG2: view

Human Phenotype Ontology for CACNG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNG2 Gene

MGI Knock Outs for CACNG2:

Animal Models for research

  • Taconic Biosciences Mouse Models for CACNG2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNG2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CACNG2 Gene

Localization for CACNG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNG2 Gene

Membrane. Multi-pass membrane protein. Cell junction, synapse, synaptosome.

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 CACNG2 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CACNG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA,TAS --
GO:0005891 voltage-gated calcium channel complex TAS,IEA --
GO:0009986 cell surface IEA --
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with CACNG2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNG2 Gene

Pathways & Interactions for CACNG2 Gene

PathCards logo

SuperPathways for CACNG2 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 CACNG2: view

Pathways by source for CACNG2 Gene

1 GeneGo (Thomson Reuters) pathway for CACNG2 Gene
  • Transcription CREB pathway
36 Qiagen pathways for CACNG2 Gene
  • Activation of cAMP-Dependent PKA
  • all-trans-Retinoic Acid Signaling in Brain
  • Androgen Signaling
  • BMP Pathway
  • Calpain Protease Regulates Cellular Mechanics
1 Cell Signaling Technology pathway for CACNG2 Gene

SIGNOR curated interactions for CACNG2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CACNG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006612 protein targeting to membrane IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007528 neuromuscular junction development IEA --
GO:0019226 transmission of nerve impulse IEA,IBA 21873635
genes like me logo Genes that share ontologies with CACNG2: view

Drugs & Compounds for CACNG2 Gene

(12) Drugs for CACNG2 Gene - From: DrugBank, PharmGKB, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target 3544
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

(1) Additional Compounds for CACNG2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for CACNG2 Gene

Compound Action Cas Number
Aniracetam Nootropic drug for senile dementia 72432-10-1
genes like me logo Genes that share compounds with CACNG2: view

Drug products for research

Transcripts for CACNG2 Gene

mRNA/cDNA for CACNG2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 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 CACNG2

Alternative Splicing Database (ASD) splice patterns (SP) for CACNG2 Gene

No ASD Table

Relevant External Links for CACNG2 Gene

GeneLoc Exon Structure for
CACNG2

Expression for CACNG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNG2 Gene

mRNA differential expression in normal tissues according to GTEx for CACNG2 Gene

This gene is overexpressed in Brain - Cerebellum (x9.4), Brain - Cerebellar Hemisphere (x9.0), Brain - Frontal Cortex (BA9) (x6.1), Brain - Cortex (x6.0), and Brain - Anterior cingulate cortex (BA24) (x4.6).

Protein differential expression in normal tissues from HIPED for CACNG2 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNG2 Gene



Protein tissue co-expression partners for CACNG2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNG2

SOURCE GeneReport for Unigene cluster for CACNG2 Gene:

Hs.146766

mRNA Expression by UniProt/SwissProt for CACNG2 Gene:

Q9Y698-CCG2_HUMAN
Tissue specificity: Brain.

Evidence on tissue expression from TISSUES for CACNG2 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with CACNG2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CACNG2 Gene

Orthologs for CACNG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CACNG2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CACNG2 29 30
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CACNG2 29 30
  • 97.32 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CACNG2 30
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CACNG2 29 30
  • 96.9 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cacng2 29 16 30
  • 93.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cacng2 29
  • 93.29 (n)
Oppossum
(Monodelphis domestica)
Mammalia CACNG2 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CACNG2 29 30
  • 90.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CACNG2 30
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cacng2 29
  • 82.76 (n)
Str.13327 29
Zebrafish
(Danio rerio)
Actinopterygii cacng2b 30
  • 84 (a)
OneToMany
cacng2a 29 30
  • 79.02 (n)
OneToMany
zgc64200 29
Species where no ortholog for CACNG2 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)
  • 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 CACNG2 Gene

ENSEMBL:
Gene Tree for CACNG2 (if available)
TreeFam:
Gene Tree for CACNG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNG2: view image
Alliance of Genome Resources:
Additional Orthologs for CACNG2

Paralogs for CACNG2 Gene

Paralogs for CACNG2 Gene

(3) SIMAP similar genes for CACNG2 Gene using alignment to 1 proteins:

  • CCG2_HUMAN
genes like me logo Genes that share paralogs with CACNG2: view

Variants for CACNG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNG2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
918096 Uncertain Significance: not specified 36,564,508(-) G/A
NM_006078.5(CACNG2):c.815C>T (p.Thr272Met)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
931257 Uncertain Significance: Mental retardation, autosomal dominant 10 36,566,491(-) C/A
NM_006078.5(CACNG2):c.298G>T (p.Ala100Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
992728 Uncertain Significance: Seizures 36,564,464(-) T/A
NM_006078.5(CACNG2):c.859A>T (p.Thr287Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs139052540 Uncertain Significance: not specified; not provided 36,564,683(-) C/T
NM_006078.4(CACNG2):c.640G>A (p.Ala214Thr)
MISSENSE
rs141608078 Likely Benign: not provided 36,564,564(-) G/T
NM_006078.4(CACNG2):c.759C>A (p.Ser253=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CACNG2 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 CACNG2 Gene

Variant ID Type Subtype PubMed ID
esv2562734 CNV insertion 19546169
esv2724196 CNV deletion 23290073
esv2724197 CNV deletion 23290073
esv2758836 CNV loss 17122850
esv2760722 CNV gain 21179565
esv3647689 CNV loss 21293372
esv3647690 CNV loss 21293372
esv989250 CNV deletion 20482838
nsv1060004 CNV gain 25217958
nsv1111235 CNV tandem duplication 24896259
nsv1142342 CNV tandem duplication 24896259
nsv474488 CNV novel sequence insertion 20440878
nsv520497 CNV gain 19592680
nsv9900 CNV gain 18304495
nsv9901 CNV gain 18304495

Variation tolerance for CACNG2 Gene

Residual Variation Intolerance Score: 43.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 17.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACNG2 Gene

Human Gene Mutation Database (HGMD)
CACNG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNG2
Leiden Open Variation Database (LOVD)
CACNG2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNG2 Gene

Disorders for CACNG2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for CACNG2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 10
  • mrd10
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
tarp syndrome
  • tarps
deafness, autosomal recessive 47
  • dfnb47
congenital muscular dystrophy-dystroglycanopathy type a6
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a6
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CCG2_HUMAN
  • Mental retardation, autosomal dominant 10 (MRD10) [MIM:614256]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21376300}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CACNG2

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 CACNG2: view

No data available for Genatlas for CACNG2 Gene

Publications for CACNG2 Gene

  1. Stargazin involvement with bipolar disorder and response to lithium treatment. (PMID: 18408563) Silberberg G … Navon R (Pharmacogenetics and genomics 2008) 3 22 40
  2. Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications. (PMID: 10221464) Black JL … Lennon VA (Mayo Clinic proceedings 1999) 3 4 22
  3. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. (PMID: 21376300) Hamdan FF … Michaud JL (American journal of human genetics 2011) 4 72
  4. Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating. (PMID: 20805473) Shi Y … Nicoll RA (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
  5. TARPs differentially decorate AMPA receptors to specify neuropharmacology. (PMID: 20219255) Kato AS … Bredt DS (Trends in neurosciences 2010) 3 22

Products for CACNG2 Gene

Sources for CACNG2 Gene