CACNG5

calcium voltage-gated channel auxiliary subunit gamma 5, the group of Calcium channel auxiliary gamma subunits

Basic information

Region (hg38): 17:66835116-66894751

Links

ENSG00000075429 ∙ NCBI:27091 ∙ OMIM:606405 ∙ HGNC:1409 ∙ Uniprot:Q9UF02 ∙ 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 CACNG5 gene.

• Inborn genetic diseases (13 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CACNG5 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					1	1
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	1

Variants in CACNG5

This is a list of pathogenic ClinVar variants found in the CACNG5 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-66877389-T-C			Benign (Mar 29, 2018)
17-66877423-G-A		not specified	Uncertain significance (Jan 06, 2023)
17-66877432-C-A		not specified	Uncertain significance (Aug 17, 2022)
17-66877450-G-A		not specified	Uncertain significance (Jun 27, 2022)
17-66877513-G-T		not specified	Uncertain significance (Dec 30, 2023)
17-66877525-G-A			Uncertain significance (Jun 01, 2017)
17-66878981-G-A		not specified	Uncertain significance (Aug 17, 2022)
17-66878981-G-C		not specified	Uncertain significance (Mar 27, 2023)
17-66880565-C-T		not specified	Uncertain significance (Oct 12, 2021)
17-66880634-G-A		not specified	Uncertain significance (Sep 21, 2023)
17-66880643-C-T		not specified	Uncertain significance (May 06, 2022)
17-66880656-C-T		not specified	Uncertain significance (Oct 12, 2022)
17-66884565-T-G		not specified	Uncertain significance (Dec 17, 2023)
17-66884624-C-T		not specified	Uncertain significance (May 18, 2022)
17-66884989-G-A		not specified	Uncertain significance (Jan 22, 2024)
17-66885015-G-T		not specified	Uncertain significance (Dec 02, 2022)
17-66885062-A-G		not specified	Uncertain significance (Dec 20, 2023)
17-66885065-G-A		not specified	Uncertain significance (Jun 01, 2023)
17-66885070-C-T		not specified	Uncertain significance (Jan 02, 2024)
17-66885071-G-A		not specified	Uncertain significance (Mar 08, 2024)
17-66885088-G-A		not specified	Uncertain significance (Nov 03, 2022)
17-66885164-C-G		not specified	Uncertain significance (Jun 23, 2023)
17-66885220-A-G		not specified	Uncertain significance (Jul 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CACNG5	protein_coding	protein_coding	ENST00000533854	5	50369

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00612	0.915	125729	0	19	125748	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.241	171	180	0.950	0.0000112	1801
Missense in Polyphen		52	56.066	0.92748		520
Synonymous	-0.167	79	77.1	1.02	0.00000519	550
Loss of Function	1.51	5	10.2	0.490	4.32e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000231	0.000231
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.000294	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates the gating properties of AMPA-selective glutamate receptors (AMPARs). Modulates their gating properties by accelerating their rates of activation, deactivation and desensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity for GRIA1, GRIA4 and the long isoform of GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity). {ECO:0000250}.
• 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;GPCR Dopamine D1like receptor;Phase 0 - rapid depolarisation;Phase 2 - plateau phase;Cardiac conduction;Muscle contraction (Consensus)

Intolerance Scores

• loftool: 0.269
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.77

Haploinsufficiency Scores

• pHI: 0.172
• hipred: N
• hipred_score: 0.302
• ghis: 0.461

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.250

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cacng5

Gene ontology

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