Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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 name Gene Name - the full gene name approved by the HGNC.	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HPS4
Synonyms (NCBI Gene) Gene synonyms aliases	BLOC3S2, LE
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q12.1
Summary Summary 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

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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
rs119471025	C>A,T	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs149830675	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs281865097	A>-,AA	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs281865098	T>C,G	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs281865099	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs281865100	->TTTGC	Pathogenic	Intron variant, non coding transcript variant, downstream transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant
rs281865164	->CTCCTTCCTGCCATCTGGACAAGC	Pathogenic	Coding sequence variant, inframe insertion, non coding transcript variant
rs369053765	G>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs372020804	G>A	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1555907536	->T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1602079277	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant

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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
MIRT606949	hsa-miR-8485	HITS-CLIP	19536157
MIRT670141	hsa-miR-3939	HITS-CLIP	19536157
MIRT606949	hsa-miR-8485	HITS-CLIP	19536157
MIRT607378	hsa-miR-603	HITS-CLIP	19536157
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	19536157
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT606949	hsa-miR-8485	HITS-CLIP	22927820
MIRT606949	hsa-miR-8485	HITS-CLIP	23313552
MIRT606949	hsa-miR-8485	HITS-CLIP	23313552
MIRT607378	hsa-miR-603	HITS-CLIP	23313552
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23313552
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23313552
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23313552
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT670141	hsa-miR-3939	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT631315	hsa-miR-6782-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT631314	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	23824327
MIRT607378	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT606949	hsa-miR-8485	HITS-CLIP	24906430
MIRT607378	hsa-miR-603	HITS-CLIP	24906430
MIRT606949	hsa-miR-8485	HITS-CLIP	24906430
MIRT607378	hsa-miR-603	HITS-CLIP	24906430
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	24906430
MIRT606949	hsa-miR-8485	HITS-CLIP	24906430
MIRT443047	hsa-miR-890	PAR-CLIP	22100165
MIRT443046	hsa-miR-6508-5p	PAR-CLIP	22100165
MIRT443045	hsa-miR-8067	PAR-CLIP	22100165
MIRT443044	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443043	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT443042	hsa-miR-518d-5p	PAR-CLIP	22100165
MIRT443041	hsa-miR-518e-5p	PAR-CLIP	22100165
MIRT443040	hsa-miR-518f-5p	PAR-CLIP	22100165
MIRT443039	hsa-miR-519a-5p	PAR-CLIP	22100165
MIRT443038	hsa-miR-519b-5p	PAR-CLIP	22100165
MIRT443037	hsa-miR-519c-5p	PAR-CLIP	22100165
MIRT443036	hsa-miR-520c-5p	PAR-CLIP	22100165
MIRT443035	hsa-miR-522-5p	PAR-CLIP	22100165
MIRT443034	hsa-miR-523-5p	PAR-CLIP	22100165
MIRT443033	hsa-miR-526a	PAR-CLIP	22100165
MIRT443032	hsa-miR-4777-5p	PAR-CLIP	22100165
MIRT440486	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440486	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	27418678
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	27418678
MIRT670141	hsa-miR-3939	HITS-CLIP	27418678
MIRT670141	hsa-miR-3939	HITS-CLIP	27418678
MIRT670141	hsa-miR-3939	HITS-CLIP	27418678
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	27418678
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	27418678
MIRT575487	hsa-miR-603	HITS-CLIP	27418678
MIRT575487	hsa-miR-603	HITS-CLIP	27418678
MIRT575487	hsa-miR-603	HITS-CLIP	27418678
MIRT575487	hsa-miR-603	HITS-CLIP	27418678
MIRT575487	hsa-miR-603	HITS-CLIP	27418678
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	27418678
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	27418678
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	27418678
MIRT575486	hsa-miR-8485	HITS-CLIP	27418678
MIRT575486	hsa-miR-8485	HITS-CLIP	27418678
MIRT575486	hsa-miR-8485	HITS-CLIP	27418678
MIRT575486	hsa-miR-8485	HITS-CLIP	27418678
MIRT575486	hsa-miR-8485	HITS-CLIP	27418678
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	28735896
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	28735896
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	28735896
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	28735896
MIRT575487	hsa-miR-603	HITS-CLIP	28735896
MIRT575487	hsa-miR-603	HITS-CLIP	28735896
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	28735896
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	28735896
MIRT575486	hsa-miR-8485	HITS-CLIP	28735896
MIRT575486	hsa-miR-8485	HITS-CLIP	28735896
MIRT575486	hsa-miR-8485	HITS-CLIP	19536157
MIRT670141	hsa-miR-3939	HITS-CLIP	19536157
MIRT575486	hsa-miR-8485	HITS-CLIP	19536157
MIRT575487	hsa-miR-603	HITS-CLIP	19536157
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	19536157
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	19536157
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	19536157
MIRT575486	hsa-miR-8485	HITS-CLIP	22927820
MIRT575486	hsa-miR-8485	HITS-CLIP	23313552
MIRT575486	hsa-miR-8485	HITS-CLIP	23313552
MIRT575487	hsa-miR-603	HITS-CLIP	23313552
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23313552
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23313552
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23313552
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT670141	hsa-miR-3939	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT631315	hsa-miR-6782-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT631314	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT575486	hsa-miR-8485	HITS-CLIP	23824327
MIRT575487	hsa-miR-603	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT609935	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT609934	hsa-miR-6732-3p	HITS-CLIP	23824327
MIRT607377	hsa-miR-6760-3p	HITS-CLIP	23824327
MIRT609933	hsa-miR-200c-5p	HITS-CLIP	23824327
MIRT609932	hsa-miR-550a-3p	HITS-CLIP	23824327
MIRT443047	hsa-miR-890	PAR-CLIP	22100165
MIRT443046	hsa-miR-6508-5p	PAR-CLIP	22100165
MIRT443045	hsa-miR-8067	PAR-CLIP	22100165
MIRT443044	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443043	hsa-miR-182-3p	PAR-CLIP	22100165
MIRT443042	hsa-miR-518d-5p	PAR-CLIP	22100165
MIRT443041	hsa-miR-518e-5p	PAR-CLIP	22100165
MIRT443040	hsa-miR-518f-5p	PAR-CLIP	22100165
MIRT443039	hsa-miR-519a-5p	PAR-CLIP	22100165
MIRT443038	hsa-miR-519b-5p	PAR-CLIP	22100165
MIRT443037	hsa-miR-519c-5p	PAR-CLIP	22100165
MIRT443036	hsa-miR-520c-5p	PAR-CLIP	22100165
MIRT443035	hsa-miR-522-5p	PAR-CLIP	22100165
MIRT443034	hsa-miR-523-5p	PAR-CLIP	22100165
MIRT443033	hsa-miR-526a	PAR-CLIP	22100165
MIRT443032	hsa-miR-4777-5p	PAR-CLIP	22100165
MIRT1054239	hsa-miR-1178	CLIP-seq
MIRT1054240	hsa-miR-1234	CLIP-seq
MIRT1054241	hsa-miR-1247	CLIP-seq
MIRT1054242	hsa-miR-1305	CLIP-seq
MIRT1054243	hsa-miR-3121-3p	CLIP-seq
MIRT1054244	hsa-miR-3121-5p	CLIP-seq
MIRT1054245	hsa-miR-3163	CLIP-seq
MIRT1054246	hsa-miR-3184	CLIP-seq
MIRT1054247	hsa-miR-340	CLIP-seq
MIRT1054248	hsa-miR-3714	CLIP-seq
MIRT1054249	hsa-miR-423-5p	CLIP-seq
MIRT1054250	hsa-miR-4275	CLIP-seq
MIRT1054251	hsa-miR-4419a	CLIP-seq
MIRT1054252	hsa-miR-4438	CLIP-seq
MIRT1054253	hsa-miR-4449	CLIP-seq
MIRT1054254	hsa-miR-4510	CLIP-seq
MIRT1054255	hsa-miR-4785	CLIP-seq
MIRT1054256	hsa-miR-487a	CLIP-seq
MIRT1054257	hsa-miR-516a-3p	CLIP-seq
MIRT1054258	hsa-miR-548an	CLIP-seq
MIRT1054259	hsa-miR-671-5p	CLIP-seq
MIRT1054260	hsa-miR-767-3p	CLIP-seq
MIRT2012316	hsa-miR-145	CLIP-seq
MIRT2012317	hsa-miR-181a	CLIP-seq
MIRT2012318	hsa-miR-181b	CLIP-seq
MIRT2012319	hsa-miR-181c	CLIP-seq
MIRT2012320	hsa-miR-181d	CLIP-seq
MIRT2012321	hsa-miR-30a	CLIP-seq
MIRT2012322	hsa-miR-30b	CLIP-seq
MIRT2012323	hsa-miR-30c	CLIP-seq
MIRT2012324	hsa-miR-30d	CLIP-seq
MIRT2012325	hsa-miR-30e	CLIP-seq
MIRT2012326	hsa-miR-4262	CLIP-seq
MIRT2012327	hsa-miR-4712-5p	CLIP-seq
MIRT2012328	hsa-miR-543	CLIP-seq
MIRT2012329	hsa-miR-770-5p	CLIP-seq
MIRT2012330	hsa-miR-935	CLIP-seq
MIRT2012316	hsa-miR-145	CLIP-seq
MIRT2244662	hsa-miR-3074-3p	CLIP-seq
MIRT2012321	hsa-miR-30a	CLIP-seq
MIRT2012322	hsa-miR-30b	CLIP-seq
MIRT2012323	hsa-miR-30c	CLIP-seq
MIRT2012324	hsa-miR-30d	CLIP-seq
MIRT2012325	hsa-miR-30e	CLIP-seq
MIRT2244663	hsa-miR-320e	CLIP-seq
MIRT2012327	hsa-miR-4712-5p	CLIP-seq
MIRT2244664	hsa-miR-498	CLIP-seq
MIRT2012329	hsa-miR-770-5p	CLIP-seq

Show/Hide all(29)

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
GO:0005765	Component	Lysosomal membrane	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006605	Process	Protein targeting	IBA	21873635
GO:0006605	Process	Protein targeting	IDA	12663659
GO:0007040	Process	Lysosome organization	IDA	12663659
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	TAS	11836498
GO:0016020	Component	Membrane	IDA	12756248
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0031085	Component	BLOC-3 complex	IBA	21873635
GO:0031085	Component	BLOC-3 complex	IPI	12756248, 20048159, 23084991
GO:0031267	Function	Small GTPase binding	IPI	20048159
GO:0031410	Component	Cytoplasmic vesicle	IBA	21873635
GO:0042470	Component	Melanosome	IDA	12663659
GO:0042803	Function	Protein homodimerization activity	IPI	12663659
GO:0042827	Component	Platelet dense granule	IDA	12756248
GO:0046983	Function	Protein dimerization activity	IPI	12663659
GO:0048075	Process	Positive regulation of eye pigmentation	TAS	11836498
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0050821	Process	Protein stabilization	IPI	12663659
GO:1903232	Process	Melanosome assembly	IBA	21873635
GO:1903232	Process	Melanosome assembly	IDA	23084991
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810

MIM	HGNC	e!Ensembl
606682	15844	ENSG00000100099

Protein

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

	Reactome
			RAB GEFs exchange GTP for GDP on RABs

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
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 View all (101 more)	11836498, 29108692, 15108212
Ocular albinism	Albinism, Ocular	rs137852296, rs137852297, rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518841, rs1057518763, rs1057518787
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578 View all (1 more)
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	23563589, 24168225

Show/Hide Unknown Diseases (3)

Disease term	Disease name	References	Source
Unknown
Ischemic stroke	Ischemic stroke	26089329	ClinVar
Hermansky-Pudlak Syndrome With Pulmonary Fibrosis	Hermansky-Pudlak syndrome with pulmonary fibrosis		GenCC
Ischemic Stroke	Ischemic Stroke		GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
Albinism	Associate	35488210
Albinism Oculocutaneous	Associate	18463683, 30791930
Hermanski Pudlak Syndrome	Associate	29600982, 30791930, 30990103, 31415434, 33536261, 34608437, 36672886
Hypomagnesemia primary	Associate	21833017
Inflammatory Bowel Diseases	Associate	33423334
Lung Diseases	Associate	31415434
Pigmentation Disorders	Associate	23084991
Pulmonary Fibrosis	Associate	31415434, 33536261
Respiratory Insufficiency	Associate	31415434
Schizophrenia	Associate	24168225
Stomach Neoplasms	Associate	37215115

HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2)