SBF2

Chr 11

SET binding factor 2

Also known as: CMT4B2, DENND7B, MTMR13

NCBI Gene: 81846 ENSG00000133812 UniProt: Q86WG5

The protein is a pseudophosphatase and member of the myotubularin-related protein family that localizes to the cytoplasm. Mutations cause Charcot-Marie-Tooth disease type 4B2, inherited in an autosomal recessive pattern.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCharcot-Marie-Tooth disease, demyelinating, type 4B2

Clinical highlights

Gene-disease validity (ClinGen)

Charcot-Marie-Tooth disease type 4B2 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.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

0.47

LOEUF

LOF

Mechanism· G2P

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GeneReview available — SBF2