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GRIK5

Synonyms
EAA2, GRIK2, GluK5, KA2
External resources
Summary
This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants.

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
5
Likely pathogenic
0
VUS
12,513
Likely benign
1,084
Benign
0

Patient phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on GRIK5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
60%
Abnormality of the genitourinary system
60%
Abnormality of the musculoskeletal system
60%
Abnormality of head or neck
40%
Abnormality of limbs
40%
Abnormality of the nervous system
40%
Growth abnormality
40%
Abnormality of blood and blood-forming tissues
20%
Abnormality of prenatal development or birth
20%
Abnormality of the digestive system
20%
Abnormality of the endocrine system
20%
Abnormality of the eye
20%
Abnormality of the integument
20%
Abnormality of the respiratory system
20%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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