The MAP3K20 gene homepage

General information
Gene symbol MAP3K20
Gene name mitogen-activated protein kinase kinase kinase 20
Chromosome 2
Chromosomal band q31.1
Imprinted Unknown
Genomic reference NG_029373.1
Transcript reference NM_016653.2
Exon/intron information NM_016653.2 exon/intron table
Associated with diseases CNM6, SFMMP
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 1
Hidden variants 0
Download all this gene's data Download all data
Notes Alias ZAK.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 25, 2020
Date last updated September 17, 2021
Version MAP3K20:210917

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_016653.2.
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 https://www.LOVD.nl/MAP3K20
HGNC 17797
Entrez Gene 51776
PubMed articles MAP3K20
OMIM - Gene 609479
OMIM - Diseases CNM6 (myopathy, centronuclear, type 6, with fiber-type disproportion (CNM6))
SFMMP (split-foot malformation with mesoaxial polydactyly (SFMMP))
HGMD MAP3K20
GeneCards MAP3K20
GeneTests MAP3K20
Orphanet MAP3K20


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025511 2 transcript variant 1 NM_016653.2 NP_057737.2 2


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 © 2020-2021. 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.