The KIAA1279 gene homepage

General information
Gene symbol KIAA1279
Gene name KIAA1279
Chromosome 10
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NG_017061.1
Transcript reference NM_015634.3
Associated with diseases GOSHS, ID
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 32
Unique public DNA variants reported 27
Individuals with public variants 28
Hidden variants 5
Date created May 03, 2013
Date last updated May 09, 2022
Version KIAA1279:220509

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
HGNC 23419
Entrez Gene 26128
PubMed articles KIAA1279
OMIM - Gene 609367
OMIM - Diseases GOSHS (Goldberg-Shprintzen megacolon syndrome)
Orphanet KIAA1279

Active transcripts




NCBI ID     

NCBI Protein ID     

00010531 10 KIAA1279 NM_015634.3 NP_056449.1 32

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 © 2013-2022. 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.