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Hps4 Gene Detail
Summary
  • Symbol
    Hps4
  • Name
    HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
  • Synonyms
    2010205O06Rik, BLOC-3, C130020P05Rik, Hermansky-Pudlak syndrome 4, mKIAA1667
  • Feature Type
    protein coding gene
  • IDs
    MGI:2177742
    NCBI Gene: 192232
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:112490949-112526280 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 54.69 cM
  • Mapping Data
    18 experiments
Strain
Comparison
more
  • SNPs within 2kb
    40 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2177742
 protein coding gene Chr5:112490849-112526290 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029905
 protein coding gene Chr5:114919915-114955273 (+)
A/J MGP_AJ_G0029871
 protein coding gene Chr5:110446968-110482614 (+)
AKR/J MGP_AKRJ_G0029809
 protein coding gene Chr5:113953985-113989250 (+)
BALB/cJ MGP_BALBcJ_G0029882
 protein coding gene Chr5:111807355-111842989 (+)
C3H/HeJ MGP_C3HHeJ_G0029602
 protein coding gene Chr5:114397255-114432520 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030335
 protein coding gene Chr5:119413027-119455239 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027564
 protein coding gene Chr5:105269613-105306345 (+)
CAST/EiJ MGP_CASTEiJ_G0029010
 protein coding gene Chr5:113299344-113336924 (+)
CBA/J MGP_CBAJ_G0029569
 protein coding gene Chr5:123895887-123933216 (+)
DBA/2J MGP_DBA2J_G0029719
 protein coding gene Chr5:110514611-110550487 (+)
FVB/NJ MGP_FVBNJ_G0029676
 protein coding gene Chr5:109238090-109274551 (+)
LP/J MGP_LPJ_G0029807
 protein coding gene Chr5:115487108-115522363 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029707
 protein coding gene Chr5:128466616-128504818 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030376
 protein coding gene Chr5:113386952-113424438 (+)
PWK/PhJ MGP_PWKPhJ_G0028724
 protein coding gene Chr5:109122644-109159629 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028562
 protein coding gene Chr5:110872339-110909260 (+)
WSB/EiJ MGP_WSBEiJ_G0029086
 protein coding gene Chr5:113905099-113943610 (+)



Homology
more
  • Human Ortholog
    HPS4, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HPS4, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
  • Synonyms
    BLOC3S2, LE
  • Links
    NCBI Gene ID: 89781
    neXtProt AC: NX_Q9NQG7
    UniProt: Q9NQG7

  • Chr Location
    22q12.1; chr22:26443107-26483931 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Hps4 mouse models; 3 with human HPS4 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 1 allele in 2 genetic backgrounds
    5 phenotypes from multigenic genotypes
    34 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 for a spontaneous null mutation exhibit hypopigmentation, prolonged bleeding associated with a platelet defect, reduced secretion of kidney lysosomal enzymes, and resistance to diet-induced atherosclerosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    45
  • GO References
    13
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
    722
  • Tissues
    2
  • cDNA Data
    59
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000042328 Ensembl Gene Model | MGI Sequence Detail 35332 C57BL/6J ±  kb
    transcript ENSMUST00000035279 Ensembl | MGI Sequence Detail 2836 Not Applicable  
    polypeptide ENSMUSP00000047920 Ensembl | MGI Sequence Detail 671 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 60
      Genomic 1
      cDNA 59

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-11779, MGI:1917520, MGI:2141078, MGI:96768
    References
    more
    • Summaries
      All 79
      Developmental Gene Expression 1
      Diseases 3
      Gene Ontology 13
      Phenotypes 34
    • Earliest
      J:5032 Lane PW, et al., Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII. J Hered. 1967 Jan-Feb;58(1):17-20
    • Latest
      J:339479 Schuster EM, et al., TFEB induces mitochondrial itaconate synthesis to suppress bacterial growth in macrophages. Nat Metab. 2022 Jul;4(7):856-866
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory