Gene: HPS4

89781
BLOC3S2|LE
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
protein-coding
22q12.1
Ensembl:ENSG00000100099 MIM:606682 Vega:OTTHUMG00000030459 UniprotKB:Q9NQG7
NG_009763.2
SNP Mapped
1   ANCO-SNPs
AD
0   
NA (AD)  NA (ND)   (Frontal_Cortex)
3.566e-2 (AD)  2.926e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs5761557chr22:26482058 (GRCh38.p7)A>Galcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

Probe Locus(GRCh37) Gene Region p-val Trait PubMed ID
cg27468704chr22:26875823HPS43.000e-9Smoking27651444

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
VPS390.925
SUPT7L0.921
MAU20.918
QRICH10.916
C6orf890.915
VPS520.914
GLE10.913
ELP20.913
BRD80.912
ZMYM30.91

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.65
OR4F29-0.611
MTRNR2L9-0.382
MTRNR2L6-0.377
MTRNR2L10-0.369
KLRB1-0.314
TTLL10-0.306
PPBP-0.304
MTRNR2L2-0.294
C8orf74-0.289

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0164032,4-dinitrotoluene"2,4-dinitrotoluene affects the expression of HPS4 mRNA"21346803
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of HPS4 mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of HPS4 mRNA"27188386
D000082AcetaminophenAcetaminophen affects the expression of HPS4 mRNA17562736
D000082AcetaminophenAcetaminophen results in decreased expression of HPS4 mRNA17585979
D000082Acetaminophen[Clofibrate co-treated with Acetaminophen] affects the expression of HPS4 mRNA17585979
D000082AcetaminophenPPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of HPS4 mRNA]17585979
D001151ArsenicArsenic results in increased methylation of HPS4 gene24525453
D001507BeclomethasoneBeclomethasone results in increased expression of HPS4 mRNA23656298
C006703benzo(b)fluoranthenebenzo(b)fluoranthene results in increased expression of HPS4 mRNA26377693
C006780bisphenol Abisphenol A affects the expression of HPS4 mRNA21786754
C006780bisphenol Abisphenol A results in increased methylation of HPS4 gene28505145
D002994Clofibrate[Clofibrate co-treated with Acetaminophen] affects the expression of HPS4 mRNA17585979
D002994ClofibrateClofibrate results in decreased expression of HPS4 mRNA23811191
D002994ClofibrateClofibrate results in increased expression of HPS4 mRNA17585979
D002994ClofibratePPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of HPS4 mRNA]17585979
D004041Dietary FatsDietary Fats results in decreased expression of HPS4 mRNA18042831
D005485FlutamideFlutamide results in decreased expression of HPS4 mRNA24136188
D017313FenretinideFenretinide results in increased expression of HPS4 mRNA28973697
C544151jinfukangjinfukang results in increased expression of HPS4 mRNA27392435
C561695(+)-JQ1 compound(+)-JQ1 compound results in decreased expression of HPS4 mRNA24796395
C523184mocetinostatmocetinostat results in decreased expression of HPS4 mRNA27255383
D037742Nanotubes, Carbon"Nanotubes, Carbon results in decreased expression of HPS4 mRNA"25620056
D000073878Palm OilPalm Oil results in decreased expression of HPS4 mRNA18042831
C006253pirinixic acidpirinixic acid affects the expression of HPS4 mRNA23811191
C045950propiconazolepropiconazole results in decreased expression of HPS4 mRNA21278054
C017947sodium arsenitesodium arsenite affects the expression of HPS4 mRNA29319823
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of HPS4 mRNA21570461
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin promotes the reaction [AHR protein binds to HPS4 promoter]19654925
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in decreased expression of HPS4 mRNA19465110
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of HPS4 mRNA22298810
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in decreased expression of HPS4 mRNA21215274
D013806TheophyllineTheophylline results in decreased expression of HPS4 mRNA18951874
C009495titanium dioxidetitanium dioxide results in increased expression of HPS4 mRNA23409001
C057693troglitazonetroglitazone results in decreased expression of HPS4 mRNA28973697
D014635Valproic Acid"[NOG protein co-treated with Valproic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of HPS4 mRNA"27188386
D014635Valproic AcidValproic Acid affects the expression of HPS4 mRNA25979313
D014635Valproic AcidValproic Acid results in decreased expression of HPS4 mRNA23179753|2493525

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005085guanyl-nucleotide exchange factor activitycontributes_toIDA23084991  
GO:0005515protein binding-IPI12756248  
GO:0017137Rab GTPase binding-IPI20048159  
GO:0042803protein homodimerization activity-IPI12663659  
GO:0046983protein dimerization activity-IPI12663659  
GO ID GO Term Qualifier Evidence PubMed
GO:0006605protein targeting-IDA12663659  
GO:0007040lysosome organization-IDA12663659  
GO:0007596blood coagulation-IEA-  
GO:0007599hemostasis-TAS11836498  
GO:0030318melanocyte differentiation-IEA-  
GO:0048075positive regulation of eye pigmentation-TAS11836498  
GO:0050821protein stabilization-IPI12663659  
GO:1903232melanosome assembly-IDA23084991  
GO:1903955positive regulation of protein targeting to mitochondrion-HMP24270810  
GO ID GO Term Qualifier Evidence PubMed
GO:0005737cytoplasm-IDA12756248  
GO:0005764lysosome-IDA12663659  
GO:0005829cytosol-TAS-  
GO:0016020membrane-IDA12756248  
GO:0031085BLOC-3 complex-IPI12756248  20048159  23084991  
GO:0042470melanosome-IDA12663659  
GO:0042827platelet dense granule-IDA12756248  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence
R-HSA-199991Membrane TraffickingTAS
R-HSA-5653656Vesicle-mediated transportTAS
R-HSA-8876198RAB GEFs exchange GTP for GDP on RABsTAS
R-HSA-9007101Rab regulation of traffickingTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal