CACNG8

calcium voltage-gated channel auxiliary subunit gamma 8, the group of Calcium channel auxiliary gamma subunits|MicroRNA protein coding host genes

Basic information

Region (hg38): 19:53962936-53990215

Links

ENSG00000142408 ∙ NCBI:59283 ∙ OMIM:606900 ∙ HGNC:13628 ∙ Uniprot:Q8WXS5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CACNG8 gene.

• Inborn genetic diseases (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CACNG8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	0

Variants in CACNG8

This is a list of pathogenic ClinVar variants found in the CACNG8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-53963195-G-A		not specified	Uncertain significance (Jan 22, 2024)
19-53963306-C-G		not specified	Uncertain significance (Feb 23, 2023)
19-53963359-G-C		not specified	Uncertain significance (Oct 05, 2023)
19-53963359-G-T		not specified	Likely benign (Feb 17, 2022)
19-53979870-T-C		not specified	Uncertain significance (Jan 30, 2024)
19-53979935-G-A		not specified	Uncertain significance (Dec 05, 2022)
19-53979935-G-C		not specified	Uncertain significance (Jan 26, 2022)
19-53979947-C-T		not specified	Uncertain significance (Jul 13, 2021)
19-53982128-G-A		not specified	Uncertain significance (Feb 05, 2024)
19-53982130-G-A		not specified	Uncertain significance (Nov 28, 2023)
19-53982152-A-G		not specified	Uncertain significance (Dec 02, 2021)
19-53982277-T-G		not specified	Uncertain significance (Feb 23, 2023)
19-53982314-G-A		not specified	Uncertain significance (May 23, 2023)
19-53982326-G-C		not specified	Uncertain significance (Jun 29, 2023)
19-53982512-C-T		not specified	Uncertain significance (Jan 08, 2024)
19-53982596-G-A		not specified	Uncertain significance (Jun 24, 2022)
19-53982605-G-A		not specified	Uncertain significance (Feb 16, 2023)
19-53982671-C-T		not specified	Uncertain significance (Mar 22, 2023)
19-53982709-G-A		not specified	Uncertain significance (Apr 05, 2023)
19-53982715-G-A		not specified	Uncertain significance (Mar 23, 2022)
19-53982727-G-A		not specified	Uncertain significance (Oct 29, 2021)
19-53982731-C-A		not specified	Uncertain significance (Jun 24, 2022)
19-53982736-G-A		not specified	Uncertain significance (Feb 26, 2024)
19-53982745-G-A		not specified	Uncertain significance (Feb 21, 2024)
19-53982755-C-T		not specified	Uncertain significance (Apr 04, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CACNG8	protein_coding	protein_coding	ENST00000270458	4	27176

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.964	0.0361	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.34	89	176	0.505	0.00000821	2664
Missense in Polyphen		28	71.305	0.39268		887
Synonymous	-0.0503	83	82.4	1.01	0.00000402	966
Loss of Function	2.98	0	10.3	0.00	4.54e-7	118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. {ECO:0000250|UniProtKB:Q8VHW2, ECO:0000269|PubMed:20805473, ECO:0000269|PubMed:21172611}.
• Pathway: Oxytocin signaling pathway - Homo sapiens (human);Cardiac muscle contraction - Homo sapiens (human);Dilated cardiomyopathy (DCM) - Homo sapiens (human);Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human);Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Arrhythmogenic Right Ventricular Cardiomyopathy;MAPK Signaling Pathway;Developmental Biology;GPCR Dopamine D1like receptor;Neuronal System;Phase 0 - rapid depolarisation;Phase 2 - plateau phase;Cardiac conduction;Muscle contraction;Trafficking of AMPA receptors;Glutamate binding, activation of AMPA receptors and synaptic plasticity;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;LGI-ADAM interactions (Consensus)

Haploinsufficiency Scores

• pHI: 0.115
• ghis: 0.662

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.180

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cacng8
• Phenotype: growth/size/body region phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype

Gene ontology

• Biological process: calcium ion transport;transmission of nerve impulse;positive regulation of synaptic transmission, glutamatergic;calcium ion transmembrane transport;neurotransmitter receptor transport, postsynaptic endosome to lysosome;postsynaptic neurotransmitter receptor diffusion trapping;neurotransmitter receptor internalization;regulation of AMPA receptor activity
• Cellular component: plasma membrane;voltage-gated calcium channel complex;postsynaptic density;cell junction;endocytic vesicle membrane;AMPA glutamate receptor complex;postsynaptic density membrane;L-type voltage-gated calcium channel complex
• Molecular function: voltage-gated calcium channel activity;calcium channel regulator activity;channel regulator activity