CACNG7

protein-coding

calcium voltage-gated channel auxiliary subunit gamma 7, the group of Calcium channel auxiliary gamma subunits

Gene summary

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]

MANE transcript

NM_031896.5

Inheritance

—

ClinVar variants

P:1U:33

Top phenotype

Intellectual disability

gnomAD constraint

pLI —, LoF o/e 0.09

Max pathogenic AF

—

Genomic locus

chr19:53,909,278-53,943,950

External References & Databases

Ensembl (ENSG00000105605)

Transcript & Mutation Effects

hg38 • Region Span ~34.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CACNG7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 32

Intellectual disabilityTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_031896.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense		1 clinvar	33 clinvar			34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	33	0	0	34

Highest pathogenic variant AF is 0.000045245673

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_031896.5	RefSeq	NP_114102.2	5	MANE Select
ENST00000391767.6	Ensembl	ENSP00000375647.1	5	MANE Select
NM_001384801.1	RefSeq	NP_001371730.1	4	Standard
ENST00000222212.6	Ensembl	ENSP00000222212.2	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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)

Biological Process

calcium ion transport
transmission of nerve impulse
regulation of mRNA stability
positive regulation of synaptic transmission, glutamatergic
calcium ion transmembrane transport

Molecular Function

voltage-gated calcium channel activity
calcium channel regulator activity
channel regulator activity

Cellular Component

early endosome
plasma membrane
voltage-gated calcium channel complex
AMPA glutamate receptor complex
neuronal cell body

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000391767
Coding exons: 5
Length: 34607
Individuals with no LoFs: 125745
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 125748
p: 0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.65	124	187	0.662	0.0000119	1796
Missense (PolyPhen)		40	65.517	0.61053		615
Synonymous	0.461	80	85.4	0.937	0.00000613	555
Loss of Function	2.87	1	11.5	0.0871	5.73e-7	122

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (PubMed:21127204). 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. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2 (PubMed:21172611). {ECO:0000269|PubMed:21127204, ECO:0000269|PubMed:21172611}.;

Recessive Scores

pRec: 0.118

Intolerance Scores

LoFtool: 0.268
RVIS EVS: -0.32
RVIS percentile EVS: 31.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.508

Gene Damage Prediction

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