NCOA4

Chr 10

nuclear receptor coactivator 4

Also known as: ARA70, ELE1, PTC3, RFG

NCBI Gene: 8031ENSG00000266412UniProt: Q13772

This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009]

GeneReviewsResearchGenerating clinical summary…
2
Active trials
470
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.70
LOEUF
DN
Mechanism· predicted
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GeneReview available — NCOA4
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.000
Z-score 2.89
OE 0.46 (0.30–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.77Z-score
OE missense 0.88 (0.80–0.97)
295 obs / 334.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.46 (0.30–0.70)
0≤0.351.4
Missense OE?0.88 (0.80–0.97)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 15 / 32.9Missense obs/exp: 295 / 334.4Syn Z: 0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NCOA4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients