CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CACNG2provided by HGNC
Official Full Name: calcium voltage-gated channel auxiliary subunit gamma 2provided by HGNC
Primary source: HGNC:HGNC:1406
See related: Ensembl:ENSG00000166862 MIM:602911; AllianceGenome:HGNC:1406
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
Also known as: MRD10
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. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017]
Expression: Restricted expression toward brain (RPKM 5.4) See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (36560857..36703752, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (37021025..37164438, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (36956904..37099797, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

TARPgamma2 Is Required for Normal AMPA Receptor Expression and Function in Direction-Selective Circuits of the Mammalian Retina.
Title: TARPγ2 Is Required for Normal AMPA Receptor Expression and Function in Direction-Selective Circuits of the Mammalian Retina.
Association between CACNG2 polymorphisms (rs4820242, rs2284015 and rs2284017) and chronic peripheral neuropathic pain risk in a Mexican population.
Title: Association between CACNG2 polymorphisms (rs4820242, rs2284015 and rs2284017) and chronic peripheral neuropathic pain risk in a Mexican population.
The results of this study conclude that the A-C-C haplotype at the 3 single-nucleotide polymorphisms (rs4820242, rs2284015, and rs2284017) in the CACNG2 gene is associated with increased risk of developing Chronic postmastectomy pain.
Title: CACNG2 polymorphisms associate with chronic pain after mastectomy.
Lithium response in Bipolar Disorder was significantly associated with single nucleotide polymorphism in CACNG2 in both the prospective and retrospective cohorts.
Title: Study of 45 candidate genes suggests CACNG2 may be associated with lithium response in bipolar disorder.
TARP gamma-2 reduces the ability of low glutamate concentrations to cause AMPAR desensitization and enhances channel gating at low glutamate occupancy.
Title: Dual Effects of TARP γ-2 on Glutamate Efficacy Can Account for AMPA Receptor Autoinactivation.
Our nanopositioning data place stargazin below the AMPA receptor ligand-binding domain, where it is well poised to act as a scaffold to facilitate the long-range conformational selection observations seen in single-molecule experiments. These data support a model of stargazin acting to stabilize or select conformational states that favor activation.
Title: Stargazin Modulation of AMPA Receptors.
In addition to changes in MEK3 gene regulation, our study demonstrated upregulation of CACNG2 and GADD45G at the mRNA level in CMM patients.
Title: Molecular Changes Involving MEK3-p38 MAPK Activation in Chronic Masticatory Myalgia.
A transient positive feedback mechanism between AMPAR and stargazin has implications for information processing in the brain, because it should allow activity-dependent facilitation of excitatory synaptic transmission through a postsynaptic mechanism.
Title: Superactivation of AMPA receptors by auxiliary proteins.
The additional cleft closure and/or stabilization of the more closed-cleft states of the LBD is expected to translate to higher agonist efficacy and could contribute to the structural mechanism for stargazin modulation of AMPAR function.
Title: Stargazin promotes closure of the AMPA receptor ligand-binding domain.
Autoinactivation is a subunit and splice form dependent property of AMPA receptor-stargazin complexes, which involves structural rearrangements within the complex rather than any physical dissociation.
Title: Autoinactivation of the stargazin-AMPA receptor complex: subunit-dependency and independence from physical dissociation.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

Associated conditions

Description	Tests
Intellectual disability, autosomal dominant 10 MedGen: C3280284 OMIM: 614256 GeneReviews: Not available	Compare labs

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

D22S426 (e-PCR)
- UniSTS:24661

NoName (e-PCR)
- UniSTS:489640

G44389 (e-PCR)
- UniSTS:95163

D22S619 (e-PCR)
- UniSTS:40899

D22S573 (e-PCR)
- UniSTS:149713

D22S426 (e-PCR)
- UniSTS:69332

D22S1258 (e-PCR)
- UniSTS:69335

NoName (e-PCR)
- UniSTS:480746

RH45498 (e-PCR)
- UniSTS:48368

NoName (e-PCR)
- UniSTS:482038

D6S1611 (e-PCR)
- UniSTS:44279

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 eye blink reflex	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization	IEA Inferred from Electronic Annotation more info
involved_in membrane hyperpolarization	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular junction development	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 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 protein localization to basolateral plasma membrane	IEA Inferred from Electronic Annotation 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 targeting to membrane	IEA Inferred from Electronic Annotation more info
involved_in regulation of AMPA receptor activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of AMPA receptor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to calcium ion	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
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cerebellar mossy fiber	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 hippocampal mossy fiber to CA3 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
part_of voltage-gated calcium channel complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: voltage-dependent calcium channel gamma-2 subunit

Names: TARP gamma-2; neuronal voltage-gated calcium channel gamma-2 subunit; stargazin; transmembrane AMPAR regulatory protein gamma-2

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.

Genomic

NG_031861.2 RefSeqGene

Range

4107..147002

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1159

mRNA and Protein(s)

NM_001379051.1 → NP_001365980.1 voltage-dependent calcium channel gamma-2 subunit isoform 2

Status: REVIEWED

Source sequence(s)

AL022313, AL031845, AL049749

Conserved Domains (1) summary

cl21598
Location:1 → 174

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_006078.5 → NP_006069.1 voltage-dependent calcium channel gamma-2 subunit isoform 1

See identical proteins and their annotated locations for NP_006069.1

Status: REVIEWED

Source sequence(s)

AL022313, AL031845, AL049749

Consensus CDS

CCDS13931.1

UniProtKB/Swiss-Prot

Q2M1M1, Q5TGT3, Q9UGZ7, Q9Y698

Related

ENSP00000300105.6, ENST00000300105.7

Conserved Domains (1) summary

pfam00822
Location:6 → 197

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family