CACNG6 calcium voltage-gated channel auxiliary subunit gamma 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CACNG6provided by HGNC
Official Full Name: calcium voltage-gated channel auxiliary subunit gamma 6provided by HGNC
Primary source: HGNC:HGNC:13625
See related: Ensembl:ENSG00000130433 MIM:606898; AllianceGenome:HGNC:13625
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: Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. 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 that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.42

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (53991149..54012666)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (57069639..57091148)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (54494403..54515920)

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?

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: Association of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population.
CACNG6 variants might be associated with the risk of aspirin-intolerant asthma in a Korean population.
Title: Association of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population.

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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

ECD00024 (e-PCR)
- UniSTS:281138

ECD19894 (e-PCR)
- UniSTS:300898

ECD00342 (e-PCR)
- UniSTS:281453

ECD02156 (e-PCR)
- UniSTS:283257

ECD00615 (e-PCR)
- UniSTS:281724

ECD22756 (e-PCR)
- UniSTS:303741

stSG605716 (e-PCR)
- UniSTS:447869

ECD11712 (e-PCR)
- UniSTS:292748

ECD15066 (e-PCR)
- UniSTS:296083

ECD22532 (e-PCR)
- UniSTS:303518

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

ECD19969 (e-PCR)
- UniSTS:300973

ECD21518 (e-PCR)
- UniSTS:302513

ECD14366 (e-PCR)
- UniSTS:295387

ECD19276 (e-PCR)
- UniSTS:300283

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
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 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of L-type voltage-gated calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of L-type voltage-gated calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement 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-6 subunit

Names: calcium channel, voltage-dependent, gamma subunit 6; neuronal voltage-gated calcium channel gamma-6 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.

mRNA and Protein(s)

NM_031897.3 → NP_114103.2 voltage-dependent calcium channel gamma-6 subunit isoform c

See identical proteins and their annotated locations for NP_114103.2

Status: REVIEWED

Source sequence(s)

AC008440

UniProtKB/TrEMBL

A6NP74

Related

ENSP00000319135.1, ENST00000352529.1

Conserved Domains (1) summary

cl21598
Location:54 → 110

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_145814.2 → NP_665813.1 voltage-dependent calcium channel gamma-6 subunit isoform a

See identical proteins and their annotated locations for NP_665813.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC008440, BC021552

Consensus CDS

CCDS12870.1

UniProtKB/Swiss-Prot

Q9BXT2

Related

ENSP00000252729.2, ENST00000252729.7

Conserved Domains (1) summary

cl21598
Location:54 → 239

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_145815.2 → NP_665814.1 voltage-dependent calcium channel gamma-6 subunit isoform b

See identical proteins and their annotated locations for NP_665814.1

Status: REVIEWED

Source sequence(s)

AC008440

Consensus CDS

CCDS12871.1

UniProtKB/TrEMBL

A6NFR2

Related

ENSP00000319097.2, ENST00000346968.2

Conserved Domains (1) summary

cl21598
Location:54 → 137

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

RNA

NR_102308.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate 5' exon and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a supported ORF that is likely to be translated.

Source sequence(s)

BC021552, BX281606