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AP1G2

Synonyms
G2AD
External resources
Summary
Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface.

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
34
Likely pathogenic
2
VUS
1,485
Likely benign
2,946
Benign
0

Patient Phenotypes

Proportions of phenotypes among 36 patients carrying pathogenic or likely pathogenic variants on AP1G2 gene are displayed below. The following symptoms were found in patients with a variant in AP1G2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
41.7%
Abnormality of the nervous system
38.9%
Abnormality of the musculoskeletal system
36.1%
Abnormality of the cardiovascular system
30.6%
Abnormality of the eye
27.8%
Abnormality of the integument
25%
Abnormality of the ear
22.2%
Abnormality of limbs
19.4%
Growth abnormality
13.9%
Abnormality of metabolism homeostasis
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the immune system
8.3%
Abnormality of blood and blood forming tissues
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the endocrine system
2.8%
Abnormality of the thoracic cavity
2.8%
Abnormality of the voice
2.8%
Constitutional symptom
2.8%
Neoplasm
2.8%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%

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