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Hps6 Gene Detail
Summary
  • Symbol
    Hps6
  • Name
    HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
  • Synonyms
    5330434M19Rik, BLOC-2, Hermansky-Pudlak syndrome 6, ru, ruby eye
  • Feature Type
    protein coding gene
  • IDs
    MGI:2181763
    NCBI Gene: 20170
  • Gene Overview
    MyGene.info: HPS6
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:46003478-46006173 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 38.75 cM
  • Mapping Data
    38 experiments
Strain
Comparison
more
  • SNPs within 2kb
    31 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2181763
protein coding gene Chr19:46003478-46006173 (.)
129S1/SvImJ MGP_129S1SvImJ_G0025196
protein coding gene Chr19:45657180-45659875 (+)
A/J MGP_AJ_G0025172
protein coding gene Chr19:43415180-43417875 (+)
AKR/J MGP_AKRJ_G0025141
protein coding gene Chr19:44820804-44823499 (+)
BALB/cJ MGP_BALBcJ_G0025167
protein coding gene Chr19:43468550-43471245 (+)
C3H/HeJ MGP_C3HHeJ_G0024927
protein coding gene Chr19:44986722-44989417 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025610
protein coding gene Chr19:46794349-46797044 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023024
protein coding gene Chr19:42653897-42656592 (+)
CAST/EiJ MGP_CASTEiJ_G0024392
protein coding gene Chr19:44759248-44761943 (+)
CBA/J MGP_CBAJ_G0024907
protein coding gene Chr19:49143283-49145978 (+)
DBA/2J MGP_DBA2J_G0025039
protein coding gene Chr19:43231280-43233975 (+)
FVB/NJ MGP_FVBNJ_G0025000
protein coding gene Chr19:43009007-43011702 (+)
LP/J MGP_LPJ_G0025125
protein coding gene Chr19:45561853-45564548 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025031
protein coding gene Chr19:48503490-48506185 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025668
protein coding gene Chr19:44922328-44925023 (+)
PWK/PhJ MGP_PWKPhJ_G0024141
protein coding gene Chr19:43163082-43165777 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023945
protein coding gene Chr19:43584101-43586796 (+)
WSB/EiJ MGP_WSBEiJ_G0024462
protein coding gene Chr19:45067176-45069871 (+)



Homology
more
  • Human Ortholog
    HPS6, HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HPS6, HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BLOC2S3
  • Links
    NCBI Gene ID: 79803
    neXtProt AC: NX_Q86YV9
    UniProt: Q86YV9

  • Chr Location
    10q24.32; chr10:102065367-102068038 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Hps6 mouse models; 1 with human HPS6 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 7 alleles in 7 genetic backgrounds
    21 phenotypes from multigenic genotypes
    4 images
    40 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.
Mutations in this gene result in hypopigmented hair and eyes, and increased clotting time due to a platelet dense granule defect.
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
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 20170 NCBI Gene Model | MGI Sequence Detail 2696 C57BL/6J ±  kb
transcript NM_176785 RefSeq | MGI Sequence Detail 2696 C57BL/6  
polypeptide Q8BLY7 UniProt | EBI | MGI Sequence Detail 805 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 21
    cDNA 21

    Microarray probesets 2
Other
Accession IDs
less
MGD-MRK-14249, MGI:2442441, MGI:98204
References
more
  • Summaries
    All 93
    Diseases 2
    Gene Ontology 11
    Phenotypes 40
  • Earliest
    J:14915 So M, et al., On the inheritance of ruby eye in mice. Jpn J Genet. 1926;4:1-9
  • Latest
    J:221916 Sharda A, et al., Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome. Blood. 2015 Mar 5;125(10):1633-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory