BRD7

Chr 16

bromodomain containing 7

Also known as: BP75, CELTIX1, NAG4, SMARCI1

NCBI Gene: 29117 ENSG00000166164 UniProt: Q9NPI1

The protein functions as a chromatin remodeling factor and transcriptional coactivator/corepressor, regulating gene expression through histone modifications and interactions with transcription factors including p53. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, following an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function variants, indicating that even single functional copies may be insufficient for normal development.

GeneReviews ResearchSummary from RefSeq, UniProt

This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

GeneReviews 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

0.26

LOEUF· LoF intol.

LOF

Mechanism· predicted

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GeneReview available — BRD7