CMT4B2

Chr 11AR

SET binding factor 2

Also known as: CMT4B2, DENND7B, MTMR13

NCBI Gene: 81846UniProt: Q86WG5

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]

Primary Disease Associations & Inheritance

Charcot-Marie-Tooth disease, type 4B2MIM #604563
AR
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CMT4B2
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CMT4B2?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CMT4B2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

SBF2-related Charcot-Marie-Tooth disease

definitive
ARLoss Of FunctionAbsent Gene Product
Eye
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Charcot-Marie-Tooth disease, type 4B2

MIM #604563

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.
Bertini A et al.·Eur J Neurol
2025
[Hereditary neuropathy: recent advance].
Nakagawa M·Rinsho Shinkeigaku
2008Review
[Molecular genetics of inherited neuropathies].
Takashima H·Rinsho Shinkeigaku
2006Review
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.
Laššuthová P et al.·Clin Genet
2018Review
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Pareyson D et al.·Ann Neurol
2019
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
Senderek J et al.·Hum Mol Genet
2003
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.
Nakhro K et al.·Neurology
2013
Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.
Chen M et al.·Genomics Proteomics Bioinformatics
2014Case report
Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.
Negrão L et al.·Acta Myol
2014Case report
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.
Robinson DC et al.·ASN Neuro
2018Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.
Tersar K et al.·Hum Mol Genet
2007Functional
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools