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Hps5 Gene Detail
Summary
  • Symbol
    Hps5
  • Name
    HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
  • Synonyms
    Hermansky-Pudlak syndrome 5, ru2, ru-2, ruby eye 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2180307
    NCBI Gene: 246694
  • Gene Overview
    MyGene.info: HPS5
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:46760466-46796064 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 30.56 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    419 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2180307
protein coding gene Chr7:46760466-46796064 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032272
protein coding gene Chr7:47156451-47193864 (-)
A/J MGP_AJ_G0032251
protein coding gene Chr7:46183819-46220459 (-)
AKR/J MGP_AKRJ_G0032187
protein coding gene Chr7:47475046-47522124 (-)
BALB/cJ MGP_BALBcJ_G0032263
protein coding gene Chr7:46185907-46223403 (-)
C3H/HeJ MGP_C3HHeJ_G0031976
protein coding gene Chr7:47966507-48003376 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032753
protein coding gene Chr7:49425358-49463495 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029769
protein coding gene Chr7:48722214-48758843 (-)
CAST/EiJ MGP_CASTEiJ_G0031304
protein coding gene Chr7:39430669-39469651 (-)
CBA/J MGP_CBAJ_G0031941
protein coding gene Chr7:51086732-51124735 (-)
DBA/2J MGP_DBA2J_G0032098
protein coding gene Chr7:45860014-45896163 (-)
FVB/NJ MGP_FVBNJ_G0032052
protein coding gene Chr7:45660044-45701677 (-)
LP/J MGP_LPJ_G0032179
protein coding gene Chr7:47857628-47893653 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032089
protein coding gene Chr7:49700205-49738996 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032770
protein coding gene Chr7:46691054-46730560 (-)
PWK/PhJ MGP_PWKPhJ_G0031027
protein coding gene Chr7:39239897-39276628 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030867
protein coding gene Chr7:34711576-34749646 (-)
WSB/EiJ MGP_WSBEiJ_G0031424
protein coding gene Chr7:47195062-47235142 (-)



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
    UniProt: Q9UPZ3

  • Chr Location
    11p15.1; chr11:18278670-18322498 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
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
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  • Phenotype Summary
    22 phenotypes from 10 alleles in 11 genetic backgrounds
    30 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
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  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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  • cDNA Data
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 246694 NCBI Gene Model | MGI Sequence Detail 35599 C57BL/6J ±  kb
transcript NM_001005247 RefSeq | MGI Sequence Detail 4828 C57BL/6  
polypeptide P59438 UniProt | EBI | MGI Sequence Detail 1126 Not Applicable  
For the selected sequence
Protein
Information
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Molecular
Reagents
less
  • All nucleic 60
    cDNA 60

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-11042, MGD-MRK-12533, MGD-MRK-14250, MGD-MRK-14251, MGI:2142017, MGI:2142086, MGI:2142352, MGI:98205
References
more
  • Summaries
    All 60
    Diseases 2
    Gene Ontology 5
    Phenotypes 30
  • Earliest
    J:4428 Eicher EM, The Position of ru-2 and qv with Respect to the FLECKED Translocation in the Mouse. Genetics. 1970 Mar;64(3-4):495-510
  • 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
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory