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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:45991947-45994612 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 38.75 cM
  • Mapping Data
    38 experiments
Strain
Comparison
more
  • SNPs within 2kb
    169 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 Chr19:45991917-45994612 (+)
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
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HPS6, HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
  • Synonyms
    BLOC2S3
  • Links
    NCBI Gene ID: 79803
    neXtProt AC: NX_Q86YV9
    UniProt: Q86YV9

  • Chr Location
    10q24.32; chr10:102065349-102068036 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hps6 mouse models; 2 with human HPS6 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
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
less
  • Phenotype Summary
    18 phenotypes from 8 alleles in 8 genetic backgrounds
    21 phenotypes from multigenic genotypes
    4 images
    49 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.
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
    33
  • GO References
    16
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
membraneless 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
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000074811 Ensembl Gene Model | MGI Sequence Detail 2666 C57BL/6J ±  kb
    transcript ENSMUST00000099393 Ensembl | MGI Sequence Detail 2666 Not Applicable  
    polypeptide ENSMUSP00000096991 Ensembl | 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 106
      Diseases 2
      Gene Ontology 16
      Phenotypes 49
    • Earliest
      J:14915 So M, et al., On the inheritance of ruby eye in mice. Jpn J Genet. 1927;4(1):1-9
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory