Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
59283
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium voltage-gated channel auxiliary subunit gamma 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CACNG8
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.42
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. This gene is part of a functionally diverse eight-member protein subfamily of the
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019066 hsa-miR-335-5p Microarray 18185580
MIRT052055 hsa-let-7b-5p CLASH 23622248
MIRT051755 hsa-let-7c-5p CLASH 23622248
MIRT051710 hsa-let-7d-5p CLASH 23622248
MIRT039482 hsa-miR-652-3p CLASH 23622248
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:0005245 Function Voltage-gated calcium channel activity NAS 11170751
GO:0005246 Function Calcium channel regulator activity ISS
GO:0005886 Component Plasma membrane TAS
GO:0005891 Component Voltage-gated calcium channel complex NAS 11170751
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606900 13628 ENSG00000142408
Protein
UniProt ID Q8WXS5
Protein name Voltage-dependent calcium channel gamma-8 subunit (Neuronal voltage-gated calcium channel gamma-8 subunit) (Transmembrane AMPAR regulatory protein gamma-8) (TARP gamma-8)
Protein function Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 17 223 PMP-22/EMP/MP20/Claudin family Family
Tissue specificity TISSUE SPECIFICITY: Detected in heart left ventricle. {ECO:0000269|PubMed:21127204}.
Sequence
MESLKRWNEERGLWCEKGVQVLLTTVGAFAAFGLMTIAISTDYWLYTRALICNTTNLTAG
GDDGTPHRGGGGASEKKDPGGLTHSGLWRICCLEGLKRGVCVKINHFPEDTDYDHDSAEY
LLRVVRASSIFPILSAILLLLGGVCVAASRVYKSKRNIILGAGILFVAAGLSNIIGVIVY
ISANAGEPGPKRDEEKKNHYSYGWSFYFGGLSFILAEVIGVLA
VNIYIERSREAHCQSRS
DLLKAGGGAGGSGGSGPSAILRLPSYRFRYRRRSRSSSRSSEPSPSRDASPGGPGGPGFA
STDISMYTLSRDPSKGSVAAGLAGAGGGGGGAVGAFGGAAGGAGGGGGGGGGAGAERDRG
GASGFLTLHNAFPKEAGGGVTVTVTGPPAPPAPAPPAPSAPAPGTLAKEAAASNTNTLNR
KTTPV
Sequence length 425
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cardiomyopathy Dilated Associate 26710323
Eye Diseases Associate 36490268
Nerve Degeneration Associate 36624125
Tachycardia Ventricular Associate 26710323
Ventricular Dysfunction Left Associate 26710323