The AP3B1 gene homepage

General information
Gene symbol AP3B1
Gene name adaptor-related protein complex 3, beta 1 subunit
Chromosome 5
Chromosomal band q14.1
Imprinted Unknown
Genomic reference NC_000005.9
Transcript reference NM_003664.3
Exon/intron information NM_003664.3 exon/intron table
Associated with diseases HPS2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 111
Unique public DNA variants reported 82
Individuals with public variants 12
Hidden variants 12
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated November 01, 2022
Version AP3B1:221101

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_003664.3.
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/AP3B1
External URL Albinism Database
AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
Mutations of the Adaptin b3a Gene
HGNC 566
Entrez Gene 8546
PubMed articles AP3B1
OMIM - Gene 603401
OMIM - Diseases HPS2 (Hermansky-Pudlak syndrome, type 2 (HPS-2))
HGMD AP3B1
GeneCards AP3B1
GeneTests AP3B1
Orphanet AP3B1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002637 5 adaptor-related protein complex 3, beta 1 subunit NM_003664.3 NP_003655.3 111


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 © 2010-2022. 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.