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APLP2

Synonyms
APLP-2, APPH, APPL2, CDEBP
External resources
Summary
This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.

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
8
Likely pathogenic
9
VUS
5,037
Likely benign
829
Benign
0

Patient Phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on APLP2 gene are displayed below. The following symptoms were found in patients with a variant in APLP2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
43.8%
Abnormality of the nervous system
43.8%
Abnormality of head or neck
18.8%
Abnormality of the eye
18.8%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
12.5%
Growth abnormality
12.5%
Abnormality of prenatal development or birth
6.3%
Abnormality of the cardiovascular system
6.3%
Abnormality of the digestive system
6.3%
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 immune 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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