Human Gene CACNG8 (ENST00000270458.4_9) from GENCODE V47lift37
  Description: calcium voltage-gated channel auxiliary subunit gamma 8 (from RefSeq NM_031895.6)
Gencode Transcript: ENST00000270458.4_9
Gencode Gene: ENSG00000142408.7_12
Transcript (Including UTRs)
   Position: hg19 chr19:54,466,191-54,493,469 Size: 27,279 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr19:54,466,397-54,486,103 Size: 19,707 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:54,466,191-54,493,469)mRNA (may differ from genome)Protein (425 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CCG8_HUMAN
DESCRIPTION: RecName: Full=Voltage-dependent calcium channel gamma-8 subunit; AltName: Full=Neuronal voltage-gated calcium channel gamma-8 subunit; AltName: Full=Transmembrane AMPAR regulatory protein gamma-8; Short=TARP gamma-8;
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 and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.
SUBUNIT: 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, CACNG5 and CACNG7. Interacts with CNIH2 (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity).
SIMILARITY: Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.
SEQUENCE CAUTION: Sequence=AAK15019.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=AAL50049.1; Type=Frameshift; Positions=Several;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CACNG8
Diseases sorted by gene-association score: dilated cardiomyopathy (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.74 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 112.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -69.90206-0.339 Picture PostScript Text
3' UTR -2885.657366-0.392 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004031 - PMP22/EMP/MP20/Claudin
IPR008372 - VDCC_g8su
IPR008368 - VDCC_gsu

Pfam Domains:
PF00822 - PMP-22/EMP/MP20/Claudin family
PF13903 - PMP-22/EMP/MP20/Claudin tight junction

ModBase Predicted Comparative 3D Structure on Q8WXS5
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005244 voltage-gated ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005262 calcium channel activity
GO:0016247 channel regulator activity

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0019226 transmission of nerve impulse
GO:0034765 regulation of ion transmembrane transport
GO:0070588 calcium ion transmembrane transport
GO:2000311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity

Cellular Component:
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030666 endocytic vesicle membrane
GO:0032281 AMPA glutamate receptor complex
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  AF361354 - Homo sapiens voltage-dependent calcium channel gamma-8 subunit (CACNG8) mRNA, complete cds.
BC172268 - Synthetic construct Homo sapiens clone IMAGE:100068962, MGC:198973 CACNG8 protein (CACNG8) mRNA, encodes complete protein.
BC157119 - Synthetic construct Homo sapiens clone IMAGE:100063480, MGC:190786 calcium channel, voltage-dependent, gamma subunit 8 (CACNG8) mRNA, encodes complete protein.
AF234892 - Homo sapiens putative voltage gated calcium channel gamma-8 subunit CACNG8 mRNA, partial cds.
AF288388 - Homo sapiens calcium channel gamma subunit 8 (CACNG8) mRNA, partial cds.
JD527296 - Sequence 508320 from Patent EP1572962.
DL491240 - Novel nucleic acids.
HZ043329 - JP 2015510401-A/419: MESENCHYMAL STEM CELLS FOR IN VITRO MODELING AND CELL-BASED THERAPY OF HUMAN DISEASES AND BANKS THEREOF.
HZ081955 - JP 2015514392-A/419: MicroRNAS FOR THE GENERATION OF ASTROCYTES.
HZ408789 - JP 2015528002-A/1386: CHIRAL CONTROL.
LF404426 - JP 2015509366-A/419: GENERATION OF NEURAL STEM CELLS AND MOTOR NEURONS.
LG052123 - KR 1020150036642-A/1389: CHIRAL CONTROL.
MA353957 - JP 2018075017-A/419: GENERATION OF NEURAL STEM CELLS AND MOTOR NEURONS.
MS816811 - Sequence 160 from Patent WO2017085287.
DL489886 - Novel nucleic acids.
FW364643 - Oligonucleotides for modulating target RNA activity.
HI964733 - Sequence 18 from Patent WO2010139812.
HI966301 - Sequence 621 from Patent WO2010139811.
HI967167 - Sequence 621 from Patent WO2010139810.
HV595553 - JP 2010539959-A/934: Micromirs.
HZ043296 - JP 2015510401-A/386: MESENCHYMAL STEM CELLS FOR IN VITRO MODELING AND CELL-BASED THERAPY OF HUMAN DISEASES AND BANKS THEREOF.
HZ074628 - JP 2013535982-A/719: Single-Stranded RNAi Agents Containing an Internal, Non-Nucleic Acid Spacer.
HZ081922 - JP 2015514392-A/386: MicroRNAS FOR THE GENERATION OF ASTROCYTES.
HZ082954 - JP 2015513906-A/311: Stem Cell Microparticles.
HZ158110 - JP 2015130862-A/934: Micromirs.
HZ186956 - JP 2015146814-A/705: Oligonucleotides for modulating target RNA activity.
HZ436735 - JP 2015529450-A/311: Stem Cell Microparticles.
HZ482631 - JP 2015535430-A/3137: TERMINALLY MODIFIED RNA.
HZ792562 - JP 2016504050-A/4307: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JA400771 - Sequence 18 from Patent WO2011080318.
JA401749 - Sequence 18 from Patent WO2011080315.
JA402756 - Sequence 18 from Patent WO2011080316.
JA405387 - Sequence 18 from Patent EP2336353.
JA428913 - Sequence 18 from Patent WO2011095623.
JB175237 - Sequence 269 from Patent WO2012101219.
JB616282 - Sequence 112 from Patent WO2013107459.
JB620813 - Sequence 793 from Patent WO2013063544.
JC023605 - Sequence 121 from Patent EP2641976.
JC171939 - Sequence 311 from Patent WO2013150303.
JC515294 - Sequence 5547 from Patent WO2014113089.
JC572750 - Sequence 311 from Patent WO2014125276.
JC582438 - Sequence 311 from Patent WO2014125277.
JE954134 - Sequence 311 from Patent WO2015052526.
JE955887 - Sequence 311 from Patent WO2015052527.
LF137639 - JP 2016507550-A/311: Method of Producing Microparticles.
LF160585 - JP 2016513950-A/651: Oligomers with improved off-target profile.
LF162604 - JP 2016513095-A/311: Stem Cell Microparticles and miRNA.
LF404393 - JP 2015509366-A/386: GENERATION OF NEURAL STEM CELLS AND MOTOR NEURONS.
LF953356 - JP 2016534103-A/311: Stem Cell Microparticles and miRNA.
LG005701 - KR 1020150004822-A/311: STEM CELL MICROPARTICLES.
LG053397 - KR 1020150059168-A/311: STEM CELL MICROPARTICLES.
LG240636 - KR 1020160035087-A/311: STEM CELL MICROPARTICLES AND MIRNA.
LP726927 - Sequence 621 from Patent EP2883966.
LP819197 - Sequence 621 from Patent EP3296406.
LP939139 - Sequence 621 from Patent EP3184651.
LQ072882 - Sequence 3206 from Patent EP2964234.
LV470721 - JP 2016534036-A/311: Stem Cell Microparticles and miRNA.
LY405618 - KR 1020160117535-A/923: POLY OLIGOMER COMPOUND WITH BIOCLEAVABLE CONJUGATES.
LZ234313 - JP 2017184756-A/705: Oligonucleotides for modulating target RNA activity.
MA260857 - JP 2017505623-A/923: POLY OLIGOMER COMPOUND WITH BIOCLEAVABLE CONJUGATES.
MA353924 - JP 2018075017-A/386: GENERATION OF NEURAL STEM CELLS AND MOTOR NEURONS.
MS833872 - Sequence 18 from Patent EP3112479.
JD543268 - Sequence 524292 from Patent EP1572962.
JD478582 - Sequence 459606 from Patent EP1572962.
JD463830 - Sequence 444854 from Patent EP1572962.
JD148319 - Sequence 129343 from Patent EP1572962.
JD249865 - Sequence 230889 from Patent EP1572962.
JD249866 - Sequence 230890 from Patent EP1572962.
JD537304 - Sequence 518328 from Patent EP1572962.
JD238297 - Sequence 219321 from Patent EP1572962.
JD136280 - Sequence 117304 from Patent EP1572962.
JD136281 - Sequence 117305 from Patent EP1572962.
JD057174 - Sequence 38198 from Patent EP1572962.
JD100434 - Sequence 81458 from Patent EP1572962.
JD405298 - Sequence 386322 from Patent EP1572962.
JD149393 - Sequence 130417 from Patent EP1572962.
JD366458 - Sequence 347482 from Patent EP1572962.
JD293997 - Sequence 275021 from Patent EP1572962.
JD481437 - Sequence 462461 from Patent EP1572962.
JD112159 - Sequence 93183 from Patent EP1572962.
AK131287 - Homo sapiens cDNA FLJ16240 fis, clone HCASM2003357.
AK055160 - Homo sapiens cDNA FLJ30598 fis, clone BRAWH2009263.
JD238136 - Sequence 219160 from Patent EP1572962.
JD185860 - Sequence 166884 from Patent EP1572962.
JD185861 - Sequence 166885 from Patent EP1572962.
JD481341 - Sequence 462365 from Patent EP1572962.
JD481340 - Sequence 462364 from Patent EP1572962.
JD111463 - Sequence 92487 from Patent EP1572962.
JD481184 - Sequence 462208 from Patent EP1572962.
MA646383 - JP 2017113010-A/4307: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA734267 - JP 2017140048-A/3137: TERMINALLY MODIFIED RNA.
MP045597 - Sequence 419 from Patent EP3401394.
MP084267 - Sequence 419 from Patent EP3401393.
MP045564 - Sequence 386 from Patent EP3401394.
MP084234 - Sequence 386 from Patent EP3401393.
MA803436 - JP 2018183181-A/4307: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MP129411 - Sequence 311 from Patent EP3470073.
MP162334 - Sequence 311 from Patent WO2019069093.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WXS5 (Reactome details) participates in the following event(s):

R-HSA-416320 Trafficking of GluR1-containing AMPA receptors
R-HSA-5682794 LGI1 binds ADAM22 and ADAM23
R-HSA-5577213 LTCC heteropentamer (open) transports Ca2+ from extracellular region to cytosol
R-HSA-399719 Trafficking of AMPA receptors
R-HSA-5682910 LGI-ADAM interactions
R-HSA-399721 Glutamate binding, activation of AMPA receptors and synaptic plasticity
R-HSA-1266738 Developmental Biology
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-5576893 Phase 2 - plateau phase
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-5576891 Cardiac conduction
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-397014 Muscle contraction
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: CACNG6, CCG8_HUMAN, ENST00000270458.1, ENST00000270458.2, ENST00000270458.3, NM_031895, Q8WXS5, Q9BXT0, Q9BY23, uc317iud.1, uc317iud.2
UCSC ID: ENST00000270458.4_9
RefSeq Accession: NM_031895.6
Protein: Q8WXS5 (aka CCG8_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.