The KLHL40 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol KLHL40
Gene name kelch-like family member 40
Chromosome 3
Chromosomal band p21.33
Imprinted Unknown
Genomic reference NG_033035.1
Transcript reference NM_152393.3
Exon/intron information NM_152393.3 exon/intron table
Associated with diseases NEM, NEM8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (4) Gianina Ravenscroft, Nigel Laing, Naomichi Matsumoto, and Satoko Miyatake
Total number of public variants reported 60
Unique public DNA variants reported 43
Individuals with public variants 40
Hidden variants 4
Notes alias KBTBD5.
This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Date created December 12, 2012
Date last updated January 11, 2023
Version KLHL40:230111

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_152393.3.
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 http://www.LOVD.nl/KLHL40
HGNC 30372
Entrez Gene 131377
PubMed articles KLHL40
OMIM - Gene 615340
OMIM - Diseases NEM8 (myopathy, nemaline, type 8 (NEM-8))
HGMD KLHL40
GeneCards KLHL40
GeneTests KLHL40
Orphanet KLHL40


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023995 3 kelch-like family member 40 NM_152393.3 NP_689606.2 60


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 © 2012-2023. 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.