CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CACNG3provided by HGNC
Official Full Name: calcium voltage-gated channel auxiliary subunit gamma 3provided by HGNC
Primary source: HGNC:HGNC:1407
See related: Ensembl:ENSG00000006116 MIM:606403; AllianceGenome:HGNC:1407
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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 PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]
Expression: Restricted expression toward brain (RPKM 19.9) See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (24256335..24362412)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (24532831..24639260)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (24267656..24373733)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Integrated profiling identifies CACNG3 as a prognostic biomarker for patients with glioma.
Title: Integrated profiling identifies CACNG3 as a prognostic biomarker for patients with glioma.
These results suggest that CACNG3 is the best candidate for an age-related macular degeneration risk gene within the 16p12 linkage peak.
Title: Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility.
Observational study of gene-disease association. (HuGE Navigator)
Title: Linkage and association analysis of CACNG3 in childhood absence epilepsy.
CACNG3 on chromosome 16p12-p13.1 may represent susceptibility loci for CAE.
Title: Linkage and association analysis of CACNG3 in childhood absence epilepsy.
examined distribution of the stargazin-like proteins gamma2, gamma3, and gamma4 in human CNS: gamma2 is expressed in cerebellum, cerebral cortex, hippocampus and thalamus, whereas gamma3 abounds in cerebral cortex & amygdala and gamma4 in basal ganglia
Title: Human neuronal stargazin-like proteins, gamma2, gamma3 and gamma4; an investigation of their specific localization in human brain and their influence on CaV2.1 voltage-dependent calcium channels expressed in Xenopus oocytes.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cacng3 (e-PCR), detects polymorphism
- UniSTS:495980

D16S672 (e-PCR)
- UniSTS:149118

SHGC-60568 (e-PCR)
- UniSTS:76678

CACNG3_4051 (e-PCR)
- UniSTS:463243

SHGC-144113 (e-PCR)
- UniSTS:172182

URB036 (e-PCR), detects polymorphism
- UniSTS:250803

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables PDZ domain binding	IEA Inferred from Electronic Annotation more info
enables channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables ionotropic glutamate receptor binding	IEA Inferred from Electronic Annotation more info
enables voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated calcium channel activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transport	NAS Non-traceable Author Statement more info	PubMed
involved_in neurotransmitter receptor internalization	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter receptor transport, postsynaptic endosome to lysosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info
involved_in postsynaptic neurotransmitter receptor diffusion trapping	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein targeting	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of AMPA receptor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmission of nerve impulse	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of AMPA glutamate receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of AMPA glutamate receptor complex	ISS Inferred from Sequence or Structural Similarity more info
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in excitatory synapse	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynaptic density membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in somatodendritic compartment	ISS Inferred from Sequence or Structural Similarity more info
part_of voltage-gated calcium channel complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: voltage-dependent calcium channel gamma-3 subunit

Names: TARP gamma-3; calcium channel, voltage-dependent, gamma subunit 3; neuronal voltage-gated calcium channel gamma-3 subunit; transmembrane AMPAR regulatory protein gamma-3; voltage-gated calcium channel gamma subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.