About   Help   FAQ
Hps5 Gene Detail
Summary
  • Symbol
    Hps5
  • Name
    Hermansky-Pudlak syndrome 5
  • Synonyms
    ru2, ru-2, ruby eye 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2180307
    NCBI Gene: 246694
  • Gene Overview
    MyGene.info: HPS5
Location & Maps
more
  • Sequence Map
    Chr7:46760466-46796064 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      35599 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 30.56 cM
  • Mapping Data
    11 experiments
Homology
more
  • Human Ortholog
    HPS5, HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HPS5, HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AIBP63, BLOC2S2
  • Links
    NCBI Gene ID: 11234
    neXtProt AC: NX_Q9UPZ3

  • Chr Location
    11p14; chr11:18278670-18322498 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Hps5 mouse models; 1 with human HPS5 associations

Human Disease Mouse Models
       Hermansky-Pudlak Syndrome 5; HPS5   OMIM: 614074 View 3 models
       Storage Pool Platelet Disease   OMIM: 185050 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 9 alleles in 10 genetic backgrounds
    29 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    78
  • Chemically induced (ENU)
    4
  • Gene trapped
    66
  • Spontaneous
    6
  • Targeted
    2
  • Incidental Mutations
Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Other Mouse Links
  • Other Vertebrate Links
    Xenbase hps5
    ZFIN hps5
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024390 VEGA Gene Model | MGI Sequence Detail 35599 C57BL/6J ±  kb
transcript OTTMUST00000059781 VEGA | MGI Sequence Detail 4422 Not Applicable  
polypeptide OTTMUSP00000029103 VEGA | MGI Sequence Detail 1126 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    419 from dbSNP Build 142
Protein
Information
less
  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000008739 Hermansky-Pudlak syndrome 5 protein
  • InterPro Domains
    IPR017986 WD40-repeat-containing domain
    IPR015943 WD40/YVTN repeat-like-containing domain
Molecular
Reagents
less
  • All nucleic 60
    cDNA 60

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-11042, MGD-MRK-12533, MGD-MRK-14250, MGD-MRK-14251, MGI:2142017, MGI:2142086, MGI:2142352, MGI:98205
References
more
  • Summaries
    All 59
    Diseases 2
    Gene Ontology 5
    Phenotypes 29
  • Earliest
    J:15003 Bateman N, Maroon - allele of silver?. Mouse News Lett. 1957;16:7
  • Latest
    J:191882 Rachel RA, et al., Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PLoS One. 2012;7(9):e42446

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/13/2016
MGI 6.05
The Jackson Laboratory