DCAF6

Chr 1

DDB1 and CUL4 associated factor 6

Also known as: 1200006M05Rik, ARCAP, IQWD1, MSTP055, NRIP, PC326

NCBI Gene: 55827 ENSG00000143164 UniProt: Q58WW2

The protein functions as a ligand-dependent coactivator of nuclear receptors including the glucocorticoid receptor and androgen receptor, and may serve as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. Mutations cause autosomal recessive neurodevelopmental disorder with absent language, autistic behaviors, and brain abnormalities. The gene shows high constraint against loss-of-function variants (LOEUF 0.384), indicating that complete loss of protein function is likely deleterious.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a ligand-dependent coactivator of nuclear receptors, including nuclear receptor subfamily 3 group C member 1 (NR3C1), glucocorticoid receptor (GR), and androgen receptor (AR). The encoded protein and DNA damage binding protein 2 (DDB2) may act as tumor promoters and tumor suppressors, respectively, by regulating the level of androgen receptor in prostate tissues. In addition, this protein can act with glucocorticoid receptor to promote human papillomavirus gene expression. [provided by RefSeq, Mar 2017]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.38

LOEUF

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Mechanism

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