CACNG6

calcium voltage-gated channel auxiliary subunit gamma 6, the group of Calcium channel auxiliary gamma subunits

Basic information

Region (hg38): 19:53991637-54012666

Links

ENSG00000130433 ∙ NCBI:59285 ∙ OMIM:606898 ∙ HGNC:13625 ∙ Uniprot:Q9BXT2 ∙ 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 CACNG6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CACNG6 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in CACNG6

This is a list of pathogenic ClinVar variants found in the CACNG6 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-53992881-A-T		not specified	Uncertain significance (May 09, 2022)
19-53992885-G-C		not specified	Uncertain significance (Jun 10, 2022)
19-53992894-T-C		not specified	Uncertain significance (Apr 12, 2023)
19-53992904-A-C		not specified	Uncertain significance (Apr 22, 2022)
19-53992915-G-A		not specified	Uncertain significance (Dec 03, 2021)
19-53992927-C-T		not specified	Uncertain significance (Apr 11, 2023)
19-53992950-G-C		not specified	Uncertain significance (Jun 02, 2023)
19-53993104-G-A		not specified	Uncertain significance (Dec 19, 2023)
19-53993121-G-C		not specified	Uncertain significance (Jan 04, 2024)
19-53993139-A-G		not specified	Uncertain significance (Dec 12, 2023)
19-53993145-C-T		not specified	Uncertain significance (Nov 23, 2021)
19-53993190-C-T		not specified	Uncertain significance (Mar 26, 2024)
19-53998254-A-G		not specified	Uncertain significance (Apr 07, 2023)
19-53998272-C-T		not specified	Uncertain significance (Mar 20, 2024)
19-53998287-G-A		not specified	Likely benign (Jul 16, 2021)
19-53999699-T-C		not specified	Uncertain significance (Feb 21, 2024)
19-53999700-G-A		not specified	Uncertain significance (Sep 20, 2023)
19-54011957-T-A		not specified	Uncertain significance (Aug 16, 2021)
19-54011959-C-G		not specified	Uncertain significance (Dec 17, 2023)
19-54011999-C-T		not specified	Uncertain significance (Jun 17, 2024)
19-54012032-C-T		not specified	Uncertain significance (Apr 15, 2022)
19-54012112-G-A		not specified	Uncertain significance (May 17, 2023)
19-54012115-T-A		not specified	Uncertain significance (Feb 28, 2023)
19-54012134-T-G		not specified	Uncertain significance (Dec 28, 2022)
19-54012185-C-A		not specified	Uncertain significance (Nov 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CACNG6	protein_coding	protein_coding	ENST00000252729	4	20382

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000310	0.357	125740	0	7	125747	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.319	120	130	0.921	0.00000805	1595
Missense in Polyphen		45	47.157	0.95426		646
Synonymous	0.927	53	62.3	0.851	0.00000416	586
Loss of Function	0.139	7	7.41	0.945	4.02e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000362	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
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. {ECO:0000269|PubMed:21127204}.
• 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)

Recessive Scores

• pRec: 0.0510

Haploinsufficiency Scores

• pHI: 0.0331
• hipred: N
• hipred_score: 0.334
• ghis: 0.439

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.259

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cacng6
• Phenotype: normal phenotype

Gene ontology

• Biological process: calcium ion transport;regulation of ion transmembrane transport;calcium ion transmembrane transport
• Cellular component: plasma membrane;voltage-gated calcium channel complex;L-type voltage-gated calcium channel complex
• Molecular function: voltage-gated calcium channel activity;calcium channel regulator activity