HPS4 (Gene)

Organism:

Homo sapiens

Synonyms:BLOC3S2, ENTREZ:89781, HGNC:15844, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2, HPS4, LE, MIM:606682, NM_001349896, NM_001349898, NM_001349899, NM_001349900, NM_001349901, NM_001349902, NM_001349903, NM_001349904, NM_001349905, NM_022081, NM_152840, NM_152841, NM_152842, NM_152843, NP_001336825, NP_001336827, NP_001336828, NP_001336829, NP_001336830, NP_001336831, NP_001336832, NP_001336833, NP_001336834, NP_071364, NP_690054, NR_073135, NR_073136, NR_146311, NR_146312, NR_146313, NR_146314, NR_146315, NR_146316, XM_006724360, XM_011530485, XM_011530486, XM_011530487, XM_011530488, XM_011530489, XM_011530490, XM_011530491, XM_011530492, XM_011530493, XM_011530494, XM_011530495, XM_011530496, XM_017029045, XM_017029046, XM_017029047, XM_017029052, XM_017029053, XM_017029056, XM_017029061, XM_017029062, XM_017029063, XM_017029064, XM_024452298, XM_024452299, XM_024452300, XP_006724423, XP_011528787, XP_011528788, XP_011528789, XP_011528790, XP_011528791, XP_011528792, XP_011528793, XP_011528794, XP_011528795, XP_011528796, XP_011528797, XP_011528798, XP_016884534, XP_016884535, XP_016884536, XP_016884541, XP_016884542, XP_016884545, XP_016884550, XP_016884551, XP_016884552, XP_016884553, XP_024308066, XP_024308067, XP_024308068, XR_001755361, XR_001755364, XR_001755366, XR_002958721, XR_937947

Omim:OMIM:606682

Id:8b39999a-badd-50fa-be28-58e2e99efd17

Hgnc:HGNC:15844

Entrez:89781

Ensembl:ENSG00000100099

Description:HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

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 result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View HPS4's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with HPS4.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using HPS4.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for HPS4.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with HPS4.

Results found

Linked to

	Label	Description
	GSE114492 GSE153671 KMT2D inhibition 6 v 8 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE135350 2 V 4 DEXAMETHASONE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 3 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE186471 1 V 2 CARNOSOL HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE110178 2 V 3 TRANYLCYPROMINE MOUSE DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE248769 1 V 0 SORAFENIB HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE132369,GSE132371 3 V 0 CCCP HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE184210 0 V 1 GLUCAGON MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE228430 FABP5 inhibition Huh-7 2 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS