The IGHMBP2 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol IGHMBP2
Gene name immunoglobulin mu binding protein 2
Chromosome 11
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NG_007976.1
Transcript reference NM_002180.2
Exon/intron information NM_002180.2 exon/intron table
Associated with diseases CMT-2S, DSMA-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Jorge Oliveira
Total number of public variants reported 422
Unique public DNA variants reported 224
Individuals with public variants 398
Hidden variants 13
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Date created April 29, 2010
Date last updated November 30, 2021
Version IGHMBP2:211130

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002180.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 5542
Entrez Gene 3508
PubMed articles IGHMBP2
OMIM - Gene 600502
OMIM - Diseases CMT-2S (Charcot-Marie-Tooth disease, axonal, type 2S (CMT-2S))
DSMA-1 (atrophy, muscular, spinal, distal, type 1 (DSMA-1, alias SMARD-1))
GeneCards IGHMBP2
GeneTests IGHMBP2
Orphanet IGHMBP2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000110 11 immunoglobulin mu binding protein 2 NM_002180.2 NP_002171.2 422

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.