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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:46409890-46445488 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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 Chr7:46409890-46445501 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HPS5, HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
  • Synonyms
    AIBP63, BLOC2S2
  • Links
    NCBI Gene ID: 11234
    neXtProt AC: NX_Q9UPZ3
    UniProt: Q9UPZ3

  • Chr Location
    11p15.1; chr11:18278668-18322198 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Hps5 mouse models; 2 with human HPS5 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
 View 2 models
      
IDs
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
    26 phenotypes from 11 alleles in 12 genetic backgrounds
    35 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.
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
    14
  • GO References
    9
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    60
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000014418 Ensembl Gene Model | MGI Sequence Detail 35599 C57BL/6J ±  kb
    transcript ENSMUST00000014562 Ensembl | MGI Sequence Detail 4953 Not Applicable  
    polypeptide ENSMUSP00000014562 Ensembl | MGI Sequence Detail 1126 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    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 69
      Diseases 2
      Gene Ontology 9
      Phenotypes 35
    • 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:236210 Li K, et al., HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes. J Cell Sci. 2014 Nov 1;127(Pt 21):4574-88
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory