IGHMBP2
Chr 11ARimmunoglobulin mu DNA binding protein 2
Also known as: CATF1, CMT2S, HCSA, HMN6, HMNR1, SMARD1, SMUBP2, ZFAND7
The protein is a helicase that binds specific DNA sequences in the immunoglobulin mu chain switch region. Mutations cause autosomal recessive spinal muscle atrophy with respiratory distress type 1, Charcot-Marie-Tooth disease axonal type 2S, and distal hereditary motor neuronopathy type 1. The pathogenic mechanism appears to involve dominant-negative effects.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IGHMBP2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Gene Therapy for IGHMBP2-Related Diseases
ENROLLING BY INVITATIONTreatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools