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NCOA3

Synonyms
ACTR, AIB-1, AIB1, CAGH16, CTG26, KAT13B, RAC3, SRC-3, SRC3, TNRC14, TNRC16, TRAM-1, bHLHe42, pCIP
External resources
Summary
The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein.

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
33
Likely pathogenic
0
VUS
2,416
Likely benign
13,587
Benign
6,397

Patient phenotypes

Proportions of phenotypes among 27 patients carrying pathogenic or likely pathogenic variants on NCOA3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
29.6%
Abnormality of head or neck
25.9%
Abnormality of the eye
25.9%
Abnormality of the musculoskeletal system
22.2%
Growth abnormality
14.8%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of limbs
7.4%
Abnormality of the ear
7.4%
Abnormality of the endocrine system
7.4%
Abnormality of the integument
7.4%
Abnormality of the breast
3.7%
Abnormality of the cardiovascular system
3.7%
Abnormality of the immune system
3.7%
Neoplasm
3.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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