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Symbol report for HPS4

Stable symbol

HGNC data for HPS4

Approved symbol
HPS4
Approved name

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

Locus type
gene with protein product
HGNC ID
HGNC:15844
Symbol status
Approved
Previous names
Hermansky-Pudlak syndrome 4
Alias symbols
KIAA1667
LE
BLOC3S2
Chromosomal location
22q12.1
Gene groups
Gene resources for HPS4
Ensembl
ENSG00000100099 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
89781 Curated
UCSC
uc003acl.5
Alliance of Genome Resources
HGNC:15844
Nucleotide resources for HPS4
MANE Select
NM_022081.6
ENST00000398145.7
RefSeq
NM_022081 Curated
NCBI sequence viewer
Protein resources for HPS4
UniProt/Swiss-Prot
Q9NQG7
InterProPDBeReactome
AlphaFold
AF-Q9NQG7-F1
Orthologs from selected species for HPS4
Bos taurus
HPS4 VGNC:29945 VGNC
Canis familiaris
HPS4 VGNC:41776 VGNC
Equus caballus
HPS4 VGNC:18862 VGNC
Felis catus
HPS4 VGNC:62839 VGNC
Macaca mulatta
HPS4 VGNC:73396 VGNC
Mus musculus
Hps4 MGI:2177742 Curated
Pan troglodytes
HPS4 VGNC:8860 VGNC
Rattus norvegicus
Hps4 RGD:1308070
Sus scrofa
HPS4 VGNC:88966 VGNC
Clinical resources for HPS4
OMIM
606682
LRG
LRG_590 Curated
LSDB
Mutations of the Human light ear Gene (le, HPS4) Curated
GenCC
HGNC:15844
MedlinePlus
Search via HPS4
DECIPHER
Search via HPS4
ClinGen
Search via HGNC:15844
Genetic Testing Registry
Search via NCBI Gene ID 89781
ClinVar
Search via NCBI Gene ID 89781
dbVar
Search via NCBI Gene ID 89781
Orphanet
122486
Other resources for HPS4
AmiGO
Search via Q9NQG7
QuickGO
Search via Q9NQG7
BioGPS
Search via NCBI Gene ID 89781
GeneCards
Search via HGNC:15844
Monarch
Search via HGNC:15844
WikiGenes
Search via NCBI Gene ID 89781
References for HPS4