CACNG4 calcium voltage-gated channel auxiliary subunit gamma 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CACNG4provided by HGNC
Official Full Name: calcium voltage-gated channel auxiliary subunit gamma 4provided by HGNC
Primary source: HGNC:HGNC:1408
See related: Ensembl:ENSG00000075461 MIM:606404; AllianceGenome:HGNC:1408
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 and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]
Expression: Biased expression in brain (RPKM 19.4), prostate (RPKM 8.2) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 17q24.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (66964707..67033398)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (67840502..67909206)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (64960823..65029514)

Chromosome 17 - NC_000017.11 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
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?

These results indicate that CACNG4, CACNG5, CACNG6 and CACNG8 may contribute to the risk of SCZ. The statistical epistasis identified between CACNG5 and CACNG6 suggests that there may be an underlying biological interaction between the two genes.
Title: Evaluation of voltage-dependent calcium channel γ gene families identified several novel potential susceptible genes to schizophrenia.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Analysis of multiple candidate genes in association with phenotypes of multiple sclerosis.
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

SHGC-81981 (e-PCR)
- UniSTS:102960

CACNG4_503 (e-PCR)
- UniSTS:277049

Cacng4 (e-PCR), detects polymorphism
- UniSTS:499001

D20S801 (e-PCR)
- UniSTS:21064

G17986 (e-PCR)
- UniSTS:43392

SHGC-17632 (e-PCR)
- UniSTS:66770

RH93006 (e-PCR)
- UniSTS:85461

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
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

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter receptor internalization	IBA Inferred from Biological aspect of Ancestor 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 regulation of AMPA receptor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cocaine	IEA Inferred from Electronic Annotation 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
part_of L-type voltage-gated calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell body	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in endocytic vesicle membrane	TAS Traceable Author Statement 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	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: voltage-dependent calcium channel gamma-4 subunit

Names: TARP gamma-4; calcium channel, voltage-dependent, gamma subunit 4; neuronal voltage-gated calcium channel gamma-4 subunit; transmembrane AMPAR regulatory protein gamma-4

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.