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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	89781
Gene name	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Gene symbol	HPS4
Synonyms (NCBI Gene)	BLOC3S2LE
Chromosome	22
Chromosome location	22q12.1
Summary	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

461

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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 (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	23084991
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	12756248, 20048159, 23084991
GO:0005737	Component	Cytoplasm	IDA	12756248
GO:0005764	Component	Lysosome	IDA	12663659
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006605	Process	Protein targeting	IBA
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
GO:0031085	Component	BLOC-3 complex	IPI	12756248, 20048159, 23084991
GO:0031267	Function	Small GTPase binding	IBA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	20048159
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
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:0050821	Process	Protein stabilization	IPI	12663659
GO:0060155	Process	Platelet dense granule organization	NAS	20048159
GO:1903232	Process	Melanosome assembly	IBA
GO:1903232	Process	Melanosome assembly	IDA	23084991
GO:1903232	Process	Melanosome assembly	NAS	23174301
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810

MIM	HGNC	e!Ensembl
606682	15844	ENSG00000100099

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

305

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hermansky-Pudlak syndrome	Likely pathogenic; Pathogenic	rs2146534178, rs150216540, rs119471023, rs1476012328, rs369053765, rs2518199038, rs1602079277	RCV001553743 RCV002271847 RCV004799731 RCV002510397 RCV000214159 RCV003230813 RCV000851269
Hermansky-Pudlak syndrome 4	Likely pathogenic; Pathogenic	rs374343385, rs2146555632, rs773968140, rs2146241760, rs2146757484, rs150216540, rs763190774, rs119471021, rs281865100, rs281865097, rs119471022, rs119471023, rs119471024, rs119471025, rs372833027 View all (32 more)	RCV002570781 RCV001783430 RCV003471166 RCV002245423 RCV003992620 RCV004572110 RCV003041406 RCV000004341 RCV000004342 RCV000004343 RCV000004344 RCV000004346 RCV000004347 RCV000004348 RCV002789957 RCV002517523 RCV003110190 RCV003229497 RCV003469827 RCV003469828 RCV003461730 RCV003469829 RCV003469830 RCV003461731 RCV003461732 RCV003469831 RCV003469832 RCV003469833 RCV003469834 RCV003461733 RCV003469835 RCV003461734 RCV003469836 RCV003469837 RCV003469838 RCV003461736 RCV003469839 RCV003461737 RCV003461738 RCV003469840 RCV003469841 RCV003469842 RCV004576737 RCV004576738 RCV004576740 RCV004576741 RCV004576742 RCV004576743 RCV003461002
Melanoma	Likely pathogenic	rs2146757484, rs2518649872	RCV005930046 RCV005927712
See cases	Likely pathogenic; Pathogenic	rs119471023	RCV004584314

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	rs34962745	RCV005897531
Cervical cancer	Conflicting classifications of pathogenicity	rs34962745	RCV005897532
Cholangiocarcinoma	Benign	rs17401652	RCV005916727
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs34962745	RCV005897533
Colorectal cancer	Conflicting classifications of pathogenicity	rs34962745	RCV005897536
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs756215705	RCV004560314
Gastric cancer	Conflicting classifications of pathogenicity	rs34962745	RCV005897538
Hepatocellular carcinoma	Uncertain significance; Conflicting classifications of pathogenicity	rs202104505, rs34962745	RCV005923978 RCV005897529
HPS4-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs147680141, rs140430822, rs375526010, rs373741660, rs748133574, rs770511759, rs138189133, rs577190408, rs111522254, rs61729175, rs143711674, rs373421312, rs141567957, rs144077166, rs953730702 View all (16 more)	RCV003965814 RCV003948449 RCV003913680 RCV003937567 RCV003936287 RCV003973460 RCV003917752 RCV003936494 RCV003410256 RCV003909909 RCV003417880 RCV003949940 RCV004756509 RCV003939158 RCV004731569 RCV003896687 RCV003937111 RCV003944622 RCV003961968 RCV003969984 RCV004755890 RCV003910336 RCV003910337 RCV003945396 RCV003928292 RCV003920509 RCV004756111 RCV003945869 RCV003918740 RCV003963093 RCV003918729
Interstitial lung disease 2	Uncertain significance	rs1555898206	RCV000677217
Lung cancer	Conflicting classifications of pathogenicity	rs34962745	RCV005897543
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	rs17401652, rs34962745	RCV005916724 RCV005897535
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs34962745	RCV005897530
Oculocutaneous albinism	Conflicting classifications of pathogenicity	rs34962745	RCV000767301
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs34962745	RCV005897539
Sarcoma	Conflicting classifications of pathogenicity	rs34962745	RCV005897537
Thymoma	Benign; Conflicting classifications of pathogenicity	rs17401652, rs34962745	RCV005916726 RCV005897540
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs34962745	RCV005897541
Uterine carcinosarcoma	Benign	rs17401652	RCV005916725
Uveal melanoma	Conflicting classifications of pathogenicity	rs34962745	RCV005897534

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)