BCL7B

Chr 7

BAF chromatin remodeling complex subunit BCL7B

Also known as: SMARCJ2

NCBI Gene: 9275 ENSG00000106635 UniProt: Q9BQE9 OMIM: 605846

The protein encoded by this gene positively regulates apoptosis, negatively regulates Wnt signaling components CTNNB1 and HMGA1, and is involved in cell cycle progression and stem cell differentiation. BCL7B is located in a chromosomal region commonly deleted in Williams syndrome, though specific disease associations with isolated BCL7B mutations are not well-established in the provided data. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.714).

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]

OMIM 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

0.71

LOEUF

Mechanism· predicted