Gene Report

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Basic Info

Approved Symbol	HPS4
Symbol Alias	KIAA1667, LE
Approved Name	Hermansky-Pudlak syndrome 4
Location	22q12.1
Position	chr22:26443423-26483837, -1
External Links	HGNC: 15844 Entrez Gene: 89781 Ensembl: ENSG00000100099 UCSC: uc003aci.4
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Johnson, C.,2009		Monte-Carlo Simulation P-value = 0.0077. One of Genes That Harbor Overlapping Clusters of 4 Nominally Positive SNPs Whose Allele Frequencies Distinguish Individuals With Bipolar Disorder From Controls With P<0.05 Nominal Significance From at Least Three of the Four Samples in This Analysis	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005764	lysosome	cellular component	IDA[12663659]	16
GO:0016020	membrane	cellular component	IDA[12756248]	137

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0048075	positive regulation of eye pigmentation	biological process	TAS[11836498]	1
GO:0005737	cytoplasm	cellular component	IDA[12756248]	322
GO:0050821	protein stabilization	biological process	IPI[12663659]	12
GO:0007596	blood coagulation	biological process	IEA	44
GO:0042827	platelet dense granule	cellular component	IDA[12756248]	1
GO:1903955	positive regulation of protein targeting to mitochondrion	biological process	IMP[24270810]	7
GO:0046983	protein dimerization activity	molecular function	IPI[12663659]	19
GO:0031085	BLOC-3 complex	cellular component	IPI[12756248]	1
GO:0005515	protein binding	molecular function	IPI[12756248]	563
GO:0030318	melanocyte differentiation	biological process	IEA	3
GO:0007599	hemostasis	biological process	TAS[11836498]	1
GO:0007040	lysosome organization	biological process	IDA[12663659]	2
GO:0042470	melanosome	cellular component	IDA[12663659]	15
GO:0042803	protein homodimerization activity	molecular function	IPI[12663659]	71
GO:0006605	protein targeting	biological process	IDA[12663659]	5

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
HPS4	HPS1	NO	in vivo	12756248

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 22	chr22:0-50818468	2 (0/1/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr22:26443423..26483837 View in gBrowse