HPS5 (Gene)

Organism:

Homo sapiens

Synonyms:AIBP63, BLOC2S2, ENTREZ:11234, HGNC:17022, HPS5 biogenesis of lysosomal organelles complex 2 subunit 2, HPS5, MIM:607521, NM_007216, NM_181507, NM_181508, NP_009147, NP_852608, NP_852609, XM_011519862, XM_011519863, XM_011519864, XM_011519865, XM_011519866, XM_011519867, XM_011519868, XM_017017149, XM_017017150, XM_017017151, XM_017017152, XM_017017153, XM_017017154, XP_011518164, XP_011518165, XP_011518166, XP_011518167, XP_011518168, XP_011518169, XP_011518170, XP_016872638, XP_016872639, XP_016872640, XP_016872641, XP_016872642, XP_016872643, XR_001747750, XR_001747751, XR_001747752, XR_001747753, XR_001747754, XR_001747755, XR_001747756

Omim:OMIM:607521

Id:ENSG00000110756

Hgnc:HGNC:17022

Entrez:11234

Ensembl:ENSG00000110756

Description:HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View HPS5'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 HPS5.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using HPS5.

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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 HPS5.

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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 HPS5.

Results found

Linked to

	Label	Description
	GSE252944 AKT inhibition 10 v 15 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE207871 NPC knockdown S18 1 v 0 human up 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
	GSE139987 1 V 0 ROSIGLITAZONE MOUSE DN 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
	GSE163862 2 V 3 CISPLATIN MOUSE DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE57871 GLI1 PSMD13 knockdown HCT 116 Vorinostat 11 v 10 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE57871 vorinostat HCT 116 11 v 10 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE217115 3 V 5 ALECTINIB MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE144843 GSE144844 SMARCA2 SMARCA4 knockdown 5 v 4 human up Gene Set (Entity type)	A Gene Set from LINCS

GSE252944 AKT inhibition 10 v 15 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE207871 NPC knockdown S18 1 v 0 human up

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

GSE139987 1 V 0 ROSIGLITAZONE MOUSE DN

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

GSE163862 2 V 3 CISPLATIN MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE57871 GLI1 PSMD13 knockdown HCT 116 Vorinostat 11 v 10 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE57871 vorinostat HCT 116 11 v 10 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE217115 3 V 5 ALECTINIB MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE144843 GSE144844 SMARCA2 SMARCA4 knockdown 5 v 4 human up

Gene Set (Entity type)

A Gene Set from LINCS

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The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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