IGHMBP2 Gene - Immunoglobulin Mu DNA Binding Protein 2
Genetic insights into IGHMBP2: from spinal muscular atrophy with respiratory distress to Charcot-Marie-Tooth disease type 2S.
Gene Information Card
| Symbol | IGHMBP2 |
|---|---|
| Full Name | Immunoglobulin mu DNA binding protein 2 |
| Gene Type | protein coding |
| Chromosomal Location | 11q13.3 |
| NCBI Gene ID | 3508 ncbi.nlm.nih.gov/gene/3508 |
| Ensembl ID | ENSG00000132740 |
| UniProt ID | P38935 |
| OMIM ID | 600502 |
| HGNC ID | 5542 |
| Aliases | SMUBP2, CATF1, HCSA, ZC2HC7 |
Description
IGHMBP2 encodes a helicase superfamily member that binds to immunoglobulin mu heavy chain DNA and is involved in transcription and DNA replication. Mutations in this gene cause spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth disease type 2S (CMT2S). The protein is ubiquitously expressed and localizes to the nucleus and cytoplasm.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) | Loss-of-function mutations leading to reduced helicase activity and impaired motor neuron survival | OMIM #604320; ClinVar |
| Charcot-Marie-Tooth Disease Type 2S (CMT2S) | Missense mutations causing dominant or recessive axonal neuropathy | OMIM #616155; ClinVar |
| Distal Spinal Muscular Atrophy (DSMA) | Some mutations cause a milder phenotype with distal muscle weakness | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Muscle (skeletal) | 10.2 | Low |
| Brain (cerebellum) | 8.5 | Low |
| Heart | 7.8 | Low |
| Liver | 6.9 | Low |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.3 | Moderate expression |
| K562 | 9.8 | Low expression |
| A549 | 8.1 | Low expression |
| HepG2 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1732C>T (p.Arg578Ter) | Nonsense | Pathogenic (SMARD1) | Truncated protein, loss of function |
| c.1478T>C (p.Leu493Pro) | Missense | Pathogenic (CMT2S) | Disrupts helicase domain |
| c.2362G>A (p.Glu788Lys) | Missense | Likely pathogenic | Alters ATP binding |
| c.303+1G>A | Splice site | Pathogenic (SMARD1) | Aberrant splicing, reduced protein |
Mutation functional classification
Loss of Function (LOF)
Most SMARD1 mutations are loss-of-function, leading to reduced helicase activity and motor neuron degeneration.
Gain of Function (GOF)
No clear gain-of-function mutations reported; some CMT2S mutations may have dominant-negative effects.
Dominant Negative (DN)
Certain missense mutations in CMT2S may act in a dominant-negative manner, interfering with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity | • ATP binding |
| • DNA binding | • RNA helicase activity |
| • nucleic acid binding | • zinc ion binding |
| • nucleus | • cytoplasm |
Pathways
• DNA replication
• Transcription regulation
• RNA processing
Protein Summary
IGHMBP2 is a 993-amino acid protein with a DEAD/DEAH box helicase domain and a zinc finger motif. It is involved in DNA unwinding and transcription regulation. The protein is essential for motor neuron survival, and its dysfunction leads to neuromuscular disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGHMBP2 Knockout HEK293 Cell Line | EDJ-KQ4985 | Human | 3508 | Details Get a Quote |
| IGHMBP2 Knockout A-549 Cell Line | EDJ-KQ27872 | Human | 3508 | Details Get a Quote |
| IGHMBP2 Knockout HCT 116 Cell Line | EDJ-KQ27873 | Human | 3508 | Details Get a Quote |
| IGHMBP2 Knockout HeLa Cell Line | EDJ-KQ27874 | Human | 3508 | Details Get a Quote |
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