The HPS4 gene homepage

General information
Gene symbol HPS4
Gene name Hermansky-Pudlak syndrome 4
Chromosome 22
Chromosomal band q12.1
Imprinted Unknown
Genomic reference NG_009763.2
Transcript reference NM_022081.5
Exon/intron information NM_022081.5 exon/intron table
Associated with diseases HPS, HPS4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 66
Unique public DNA variants reported 53
Individuals with public variants 14
Hidden variants 4
Date created April 29, 2010
Date last updated April 16, 2023
Version HPS4:230416

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_022081.5.
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
External URL Albinism Database

Mutations of the Human light ear Gene (le, HPS4)
HGNC 15844
Entrez Gene 89781
PubMed articles HPS4
OMIM - Gene 606682
OMIM - Diseases HPS4 (Hermansky-Pudlak syndrome, type 4 (HPS-4))
GeneCards HPS4
GeneTests HPS4
Orphanet HPS4

Active transcripts




NCBI ID     

NCBI Protein ID     

00023956 22 transcript variant 1 NM_022081.5 NP_071364.4 66

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