Home > Gene Browser > ATAD2
ATAD2
- Synonyms
- ANCCA, CT137, PRO2000
- External resources
- NCBI29028
- OMIM611941
- EnsemblENSG00000156802
- HGNCHGNC:30123
- Summary
- A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain.
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
- 8
- Likely pathogenic
- 18
- VUS
- 7,705
- Likely benign
- 3,706
- Benign
- 0
Patient phenotypes
Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on ATAD2 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the eye
- 32%
- Abnormality of the musculoskeletal system
- 28%
- Abnormality of the nervous system
- 24%
- Abnormality of the cardiovascular system
- 20%
- Abnormality of the ear
- 20%
- Abnormality of head or neck
- 16%
- Abnormality of limbs
- 8%
- Abnormality of the genitourinary system
- 8%
- Abnormality of blood and blood-forming tissues
- 4%
- Abnormality of the breast
- 4%
- Abnormality of the digestive system
- 4%
- Abnormality of the immune system
- 4%
- Abnormality of the integument
- 4%
- Growth abnormality
- 4%
- Abnormal cellular phenotype
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of prenatal development or birth
- 0%
- Abnormality of the endocrine system
- 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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