Home > Gene Browser > CAMK2G

CAMK2G

Synonyms
CAMK, CAMK-II, CAMKG, MRD59
External resources
Summary
The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
4
Likely pathogenic
0
VUS
1,418
Likely benign
1,103
Benign
4,334

Patient phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on CAMK2G gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
50%
Abnormality of the digestive system
50%
Abnormality of the genitourinary system
50%
Abnormality of the nervous system
50%
Abnormality of head or neck
25%
Abnormality of prenatal development or birth
25%
Abnormality of the ear
25%
Abnormality of the eye
25%
Abnormality of the immune system
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes