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MAPK8IP2

Synonyms
IB-2, IB2, JIP2, PRKM8IPL
External resources
Summary
This gene encodes a scaffold protein that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This protein has been shown to interact with and regulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 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
19
Likely pathogenic
0
VUS
8,511
Likely benign
427
Benign
0

Patient phenotypes

Proportions of phenotypes among 10 patients carring pathogenic or likely pathogenic variants on MAPK8IP2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
70%
Abnormality of head or neck
30%
Abnormality of the cardiovascular system
30%
Growth abnormality
30%
Abnormality of the immune system
10%
Abnormality of the musculoskeletal system
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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