Search for a gene
IGHMBP2 - immunoglobulin mu DNA binding protein 2
- Synonym(s) : cardiac transcription factor 1, CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, zinc finger, AN1-type domain 7
- Previous symbols and names : immunoglobulin mu binding protein 2
- Type : gene with protein product
- Chromosomal location : 11q13.3
- OMIM: 600502
- HGNC: 5542
- UniProtKB: P38935
- Genatlas: IGHMBP2
- GenCC: IGHMBP2
- Ensembl: ENSG00000132740
- IUPHAR-DB: -
- Reactome: -
- LOVD: IGHMBP2
Diseases list
- Disease-causing germline mutation(s) in Spinal muscular atrophy with respiratory distress type 1
ORPHA:98920 
- Disease-causing germline mutation(s) (loss of function) in Charcot-Marie-Tooth disease type 2S
ORPHA:443073
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.