CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CACNG8provided by HGNC
Official Full Name: calcium voltage-gated channel auxiliary subunit gamma 8provided by HGNC
Primary source: HGNC:HGNC:13628
See related: Ensembl:ENSG00000142408 MIM:606900; AllianceGenome:HGNC:13628
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. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]
Expression: Restricted expression toward brain (RPKM 9.1) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.42

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (53962937..53990215)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (57041427..57068705)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (54466191..54493469)

Chromosome 19 - NC_000019.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Title: The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Deficiency of transmembrane AMPA receptor regulatory protein gamma-8 leads to attention-deficit hyperactivity disorder-like behavior in mice.
Title: Deficiency of transmembrane AMPA receptor regulatory protein γ-8 leads to attention-deficit hyperactivity disorder-like behavior in mice.
SNP rs10420324 in the AMPA receptor auxiliary subunit TARP gamma-8 regulates the susceptibility to antisocial personality disorder.
Title: SNP rs10420324 in the AMPA receptor auxiliary subunit TARP γ-8 regulates the susceptibility to antisocial personality disorder.
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.
Patients with Dilated Cardiomyopathy and Sustained Monomorphic Ventricular Tachycardia Show Up-Regulation of KCNN3 and KCNJ2 Genes and CACNG8-Linked Left Ventricular Dysfunction
Title: Patients with Dilated Cardiomyopathy and Sustained Monomorphic Ventricular Tachycardia Show Up-Regulation of KCNN3 and KCNJ2 Genes and CACNG8-Linked Left Ventricular Dysfunction.

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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

ECD01790 (e-PCR)
- UniSTS:282891

NoName (e-PCR)
- UniSTS:482833

ECD18020 (e-PCR)
- UniSTS:299031

ECD23167 (e-PCR)
- UniSTS:304151

ECD13666 (e-PCR)
- UniSTS:294694

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D8S2282 (e-PCR)
- UniSTS:473910

ECD10349 (e-PCR)
- UniSTS:291388

NoName (e-PCR)
- UniSTS:480581

ECD19867 (e-PCR)
- UniSTS:300871

ECD23507 (e-PCR)
- UniSTS:304491

stSG605695 (e-PCR)
- UniSTS:447854

stSG605696 (e-PCR)
- UniSTS:447855

stSG605697 (e-PCR)
- UniSTS:447856

D1S1423 (e-PCR)
- UniSTS:149619

ECD23005 (e-PCR)
- UniSTS:303990

ECD20439 (e-PCR)
- UniSTS:301442

ECD08371 (e-PCR)
- UniSTS:289419

ECD23033 (e-PCR)
- UniSTS:304017

WI-22592 (e-PCR)
- UniSTS:34463

ECD01167 (e-PCR)
- UniSTS:282274

ECD19969 (e-PCR)
- UniSTS:300973

GDB:335751 (e-PCR)
- UniSTS:156601

ECD17173 (e-PCR)
- UniSTS:298186

ECD07153 (e-PCR)
- UniSTS:288210

NoName (e-PCR)
- UniSTS:494294

GDB:631802 (e-PCR)
- UniSTS:158429

GDB:631813 (e-PCR)
- UniSTS:158430

RH80031 (e-PCR)
- UniSTS:91103

ECD20551 (e-PCR)
- UniSTS:301551

ECD19276 (e-PCR)
- UniSTS:300283

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info
enables channel regulator activity	IBA Inferred from Biological aspect of Ancestor 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 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 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	ISS Inferred from Sequence or Structural Similarity more info
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynaptic density membrane	IBA Inferred from Biological aspect of Ancestor 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-8 subunit

Names: TARP gamma-8; calcium channel, voltage-dependent, gamma subunit 8; neuronal voltage-gated calcium channel gamma-8 subunit; transmembrane AMPAR regulatory protein gamma-8

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.