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HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
89781
Gene nameGene Name - the full gene name approved by the HGNC.
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
HPS4
SynonymsGene synonyms aliases
BLOC3S2, LE
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene r
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs61729175 G>A Conflicting-interpretations-of-pathogenicity 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs119471021 G>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant, intron variant
rs119471022 G>A,T Pathogenic Stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs119471023 G>A,C Pathogenic Stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs119471024 C>A Pathogenic Stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT002809 hsa-miR-1-3p Microarray 15685193
MIRT002809 hsa-miR-1-3p Microarray 15685193
MIRT002809 hsa-miR-1-3p Microarray 18668037
MIRT029994 hsa-miR-26b-5p Microarray 19088304
MIRT035919 hsa-miR-1180-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA 21873635
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 23084991
GO:0005515 Function Protein binding IPI 12756248, 20048159
GO:0005737 Component Cytoplasm IDA 12756248
GO:0005764 Component Lysosome IDA 12663659
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NQG7
Protein name BLOC-3 complex member HPS4 (Hermansky-Pudlak syndrome 4 protein) (Light-ear protein homolog)
Protein function Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex p
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19031 Intu_longin_1
15 → 121
First Longin domain of INTU, CCZ1 and HPS4
 Domain
PF19033 Intu_longin_3
598 → 699
Intu longin-like domain 3
 Domain
Sequence 
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGV
VRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYN
GPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARIL
QTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGH
VESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKEL
VFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDT
AISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVR
MNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSS
TYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYA
CCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL
Sequence length 708
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    RAB GEFs exchange GTP for GDP on RABs
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Albinism Albinism rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042
Hermansky-pudlak syndrome Hermanski-Pudlak Syndrome, HERMANSKY-PUDLAK SYNDROME 4 rs281865116, rs281865113, rs281865103, rs104893945, rs119471021, rs281865100, rs281865097, rs119471022, rs119471023, rs119471024, rs119471025, rs201227603, rs281865093, rs397507168, rs281865095, rs121908316, rs281865163, rs281865082, rs121908385, rs121908386, rs281865081, rs281865077, rs121908904, rs1000881595, rs121908905, rs121908906, rs121908907, rs281865084, rs281865086, rs281865088, rs281865090, rs281865075, rs281865076, rs281865080, rs281865104, rs281865105, rs397507169, rs281865101, rs201348482, rs1564899492, rs281865114, rs281865110, rs281865107, rs281865112, rs727502866, rs786205464, rs869312835, rs869312836, rs869312837, rs869312838, rs369053765, rs879255646, rs886041723, rs1591055649, rs753928208, rs113304476, rs1131692151, rs1131692149, rs1131692146, rs1131692148, rs1131692147, rs764296457, rs1131692150, rs1131692332, rs1131692333, rs766602179, rs281865115, rs1554903728, rs1220869113, rs773323079, rs1554948134, rs1486224265, rs1277509410, rs1553750083, rs372020804, rs1564899012, rs1590262288, rs753185316, rs1553750097, rs780183200, rs1576695913, rs1576708708, rs1590262450, rs756471925, rs1478574193, rs1590263807, rs1590263820, rs779921624, rs755827664, rs374689398, rs886077189, rs1591120765, rs1260083432, rs748883997, rs750685598, rs778152054, rs755083879, rs1488175163, rs1591092841, rs1576687466, rs756325364, rs1591002808, rs1591045080, rs1602079277, rs1591109881, rs1591031929, rs200079039, rs1595560288, rs772475341, rs1330496818, rs1745947620, rs552340796, rs1453977337, rs754841982, rs1568469902, rs1763106978 11836498, 29108692, 15108212
Ocular albinism Albinism, Ocular rs137852296, rs137852297, rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518841, rs1057518763, rs1057518787
Pulmonary fibrosis Pulmonary Fibrosis rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578
Unknown
Disease name Disease term dbSNP ID References
Hermansky-pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome with pulmonary fibrosis
Horizontal nystagmus Horizontal Nystagmus
Ischemic stroke Ischemic stroke rs6025, rs1799963, rs1799983 26089329
Lung diseases Lung diseases 11836498

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