IGHMBP2

Chr 11

immunoglobulin mu DNA binding protein 2

Also known as: CATF1, CMT2S, HCSA, HMN6, HMNR1, SMARD1, SMUBP2, ZFAND7

NCBI Gene: 3508ENSG00000132740UniProt: P38935

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeuronopathy, distal hereditary motor, autosomal recessive 1
UniProtCharcot-Marie-Tooth disease, axonal, type 2S

Clinical highlights

Gene-disease validity (ClinGen)
hereditary peripheral neuropathy · 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.
2
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.000
Z-score 1.81
OE 0.71 (0.53–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.18Z-score
OE missense 0.98 (0.91–1.05)
580 obs / 592.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.53–0.95)
0≤0.351.4
Missense OE?0.98 (0.91–1.05)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 31 / 43.9Missense obs/exp: 580 / 592.1Syn Z: -1.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients