CAMKV

protein-coding

CaM kinase like vesicle associated, the group of Calmodulin dependent protein kinases

Gene summary

Predicted to enable calcium/calmodulin-dependent protein kinase activity and calmodulin binding activity. Predicted to be involved in signal transduction. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Predicted to be active in cytoplasm and postsynapse. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_024046.5

Inheritance

—

ClinVar variants

U:28B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.05

Max pathogenic AF

—

Genomic locus

chr3:49,857,988-49,869,935

External References & Databases

Ensembl (ENSG00000164076)

Transcript & Mutation Effects

hg38 • Region Span ~11.9 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 CAMKV variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 31

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024046.5. 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			28 clinvar	3 clinvar		31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	3	0	31

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024046.5	RefSeq	NP_076951.2	10	MANE Select
ENST00000477224.6	Ensembl	ENSP00000419195.1	10	MANE Select
NM_001320147.2	RefSeq	NP_001307076.1	11	Standard
ENST00000296471.11	Ensembl	ENSP00000296471.6	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein phosphorylation
regulation of modification of postsynaptic structure

Molecular Function

calmodulin-dependent protein kinase activity
calmodulin binding
ATP binding

Cellular Component

plasma membrane
cytoplasmic vesicle membrane
glutamatergic synapse

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000477224
Coding exons: 10
Length: 12235
Individuals with no LoFs: 125740
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 125743
p: 0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.32	142	305	0.465	0.0000181	3253
Missense (PolyPhen)		57	172.89	0.32969		1878
Synonymous	0.644	109	118	0.925	0.00000689	1019
Loss of Function	4.09	1	21.4	0.0466	0.00000109	255

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: Does not appear to have detectable kinase activity.;

Recessive Scores

pRec: 0.148

Intolerance Scores

LoFtool: 0.242
RVIS EVS: -0.49
RVIS percentile EVS: 22.09

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.921

Gene Damage Prediction

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