Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10369
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium voltage-gated channel auxiliary subunit gamma 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CACNG2
Synonyms (NCBI Gene) Gene synonyms aliases
MRD10
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRD10
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.3
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT659915 hsa-miR-8080 HITS-CLIP 23824327
MIRT659914 hsa-miR-6729-3p HITS-CLIP 23824327
MIRT659913 hsa-miR-6758-3p HITS-CLIP 23824327
MIRT659912 hsa-miR-26b-3p HITS-CLIP 23824327
MIRT659911 hsa-miR-2117 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005245 Function Voltage-gated calcium channel activity IBA 21873635
GO:0005515 Function Protein binding IPI 20805473, 32296183
GO:0005829 Component Cytosol IEA
GO:0005886 Component Plasma membrane TAS
GO:0005891 Component Voltage-gated calcium channel complex IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602911 1406 ENSG00000166862
Protein
UniProt ID Q9Y698
Protein name Voltage-dependent calcium channel gamma-2 subunit (Neuronal voltage-gated calcium channel gamma-2 subunit) (Transmembrane AMPAR regulatory protein gamma-2) (TARP gamma-2)
Protein 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 a
PDB 6DLZ , 6DM0 , 6DM1 , 6O9G , 6TNO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 6 197 PMP-22/EMP/MP20/Claudin family Family
Tissue specificity TISSUE SPECIFICITY: Brain.
Sequence
MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTH
SGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGL
CIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISANAGDPSKSDSKKNSYSYGWSF
YFGALSFIIAEMVGVLA
VHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSS
SRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVH
NCIQKENKDSLHSNTANRRTTPV
Sequence length 323
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Non-Syndromic Intellectual Disability autosomal dominant non-syndromic intellectual disability GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Associations from Text Mining
Disease Name Relationship Type References
Bipolar Disorder Associate 23038240, 25730879, 30738251
Breast Cancer Lymphedema Associate 30371558
Chronic Pain Associate 30371558
Epilepsy Associate 18565486
Epilepsy Absence Associate 20561025
Glioblastoma Associate 35788194
Hippocampal Sclerosis Associate 32189710
Hyperalgesia Associate 35776036
Mandibular Nerve Injuries Associate 30371558
Nerve Degeneration Associate 35776036