Home > Gene Browser > CAMKK2

CAMKK2

Synonyms
CAMKK, CAMKKB
External resources
Summary
The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
23
Likely pathogenic
3,554
VUS
3,277
Likely benign
266
Benign
0

Patient phenotypes

Proportions of phenotypes among 3574 patients carring pathogenic or likely pathogenic variants on CAMKK2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.6%
Abnormality of the musculoskeletal system
28.3%
Abnormality of the eye
27.1%
Abnormality of head or neck
22.5%
Abnormality of the cardiovascular system
18.8%
Abnormality of the ear
15.1%
Growth abnormality
12.6%
Abnormality of the integument
11.2%
Abnormality of limbs
10%
Abnormality of the genitourinary system
9.3%
Abnormality of the digestive system
7.2%
Abnormality of the immune system
6.3%
Abnormality of blood and blood-forming tissues
4.6%
Abnormality of the endocrine system
4%
Abnormality of the respiratory system
3.7%
Neoplasm
2.8%
Abnormality of prenatal development or birth
2.6%
Constitutional symptom
1.3%
Abnormal cellular phenotype
0.7%
Abnormality of the voice
0.6%
Abnormality of the breast
0.4%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

Have a question or need assistance? Ask here.

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