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Symbol report for HPS5

Stable symbol

HGNC data for HPS5

Approved symbol
HPS5
Approved name

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

Locus type
gene with protein product
HGNC ID
HGNC:17022
Symbol status
Approved
Previous names
Hermansky-Pudlak syndrome 5
Alias symbols
BLOC2S2
AIBP63
RU2
Alias names
alpha-integrin-binding protein 63
Ruby-eye protein 2 homolog
Chromosomal location
11p15.1
Gene groups
Gene resources for HPS5
Ensembl
ENSG00000110756 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
11234 Curated
UCSC
uc001mod.2
Alliance of Genome Resources
HGNC:17022
Nucleotide resources for HPS5
MANE Select
NM_181507.2
ENST00000349215.8
INSDC
AB023234 Curated
ENAGenBankDDBJ
RefSeq
NM_181507 Curated
NCBI sequence viewer
Protein resources for HPS5
UniProt/Swiss-Prot
Q9UPZ3
InterProPDBeReactome
AlphaFold
AF-Q9UPZ3-F1
Orthologs from selected species for HPS5
Bos taurus
HPS5 VGNC:29946 VGNC
Canis familiaris
HPS5 VGNC:41777 VGNC
Equus caballus
HPS5 VGNC:18863 VGNC
Felis catus
HPS5 VGNC:62840 VGNC
Macaca mulatta
HPS5 VGNC:73402 VGNC
Mus musculus
Hps5 MGI:2180307 Curated
Pan troglodytes
HPS5 VGNC:8191 VGNC
Rattus norvegicus
Hps5 RGD:1311916
Clinical resources for HPS5
OMIM
607521
LRG
LRG_586 Curated
GenCC
HGNC:17022
MedlinePlus
Search via HPS5
DECIPHER
Search via HPS5
ClinGen
Search via HGNC:17022
Genetic Testing Registry
Search via NCBI Gene ID 11234
ClinVar
Search via NCBI Gene ID 11234
dbVar
Search via NCBI Gene ID 11234
Orphanet
122490
Other resources for HPS5
AmiGO
Search via Q9UPZ3
QuickGO
Search via Q9UPZ3
BioGPS
Search via NCBI Gene ID 11234
GeneCards
Search via HGNC:17022
Monarch
Search via HGNC:17022
WikiGenes
Search via NCBI Gene ID 11234
References for HPS5