The KIAA2022 gene homepage

NOTE: gene symbol was recently changed from KIAA2022 to NEXMIF.
General information
Gene symbol KIAA2022
Gene name KIAA2022
Chromosome X
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_001008537.2
Associated with diseases XLID98
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 113
Unique public DNA variants reported 96
Individuals with public variants 42
Hidden variants 11
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
NOTE: gene symbol was recently changed from KIAA2022 to NEXMIF.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created November 10, 2009
Date last updated April 19, 2024
Version KIAA2022:240419

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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/NEXMIF
HGNC 29433
Entrez Gene 340533
PubMed articles KIAA2022
OMIM - Gene 300524
OMIM - Diseases XLID98 (MRX98)
HGMD KIAA2022
GeneCards KIAA2022
GeneTests KIAA2022
Orphanet KIAA2022


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001338 X KIAA2022 NM_001008537.2 NP_001008537.1 113


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 © 2009-2024. 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.