RREB1

Chr 6

ras responsive element binding protein 1

Also known as: FINB, HNT, LZ321, RREB-1, Zep-1

NCBI Gene: 6239 ENSG00000124782 UniProt: Q92766

The protein is a zinc finger transcription factor that binds to RAS-responsive elements in gene promoters and regulates expression of genes including calcitonin and angiotensinogen. Mutations cause autosomal dominant developmental delay with variable intellectual disability, behavioral abnormalities, and distinctive facial features, typically manifesting in early childhood. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to cause significant developmental consequences.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.16

LOEUF· LoF intol.

LOF

Mechanism· G2P

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