CACNG7

Chr 19

calcium voltage-gated channel auxiliary subunit gamma 7

NCBI Gene: 59284 ENSG00000105605 UniProt: P62955

The protein regulates AMPA-selective glutamate receptor trafficking and gating properties, specifically for GRIA1 and GRIA2 subunits, and also modulates L-type calcium channels containing CACNA1C. Mutations cause autosomal dominant cone-rod dystrophy, an inherited retinal degeneration affecting central vision that typically presents in childhood or adolescence. The gene is highly constrained against loss-of-function variation, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a type II 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 I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…

LOEUF 0.41

Clinical Summary— CACNG7

⚡

Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.89) — some intolerance to loss-of-function variants.

📋

ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 32 VUS of 36 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.41LOEUF

pLI 0.887

Z-score 2.87

OE 0.09 (0.03–0.41)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.65Z-score

OE missense 0.66 (0.57–0.77)

124 obs / 187.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.09 (0.03–0.41)

0≤0.351.4

Missense OE?0.66 (0.57–0.77)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 1 / 11.5Missense obs/exp: 124 / 187.4Syn Z: 0.46

ClinVar Variant Classifications

36 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS32

Likely Pathogenic

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	1	1
VUS	32	32
Likely Benign	0	0
Benign	0	0
Total	33	33

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

16 pathogenic / likely-pathogenic (of 26) ClinVar copy-number / structural variants overlap CACNG7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →