HPS6 - HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 Gene

Homo sapiens

Also known as BLOC2S3

Gene ID: 79803 | Gene type: protein coding

About HPS6

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,065,349-102,068,036 (from NCBI)

This gene has 1 transcript (splice variant), 168 orthologues and is associated with 4 phenotypes.

Summary

This intronless 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 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]

HPS6 Products(1)

mRNA	Protein	Name
NM_024747.6	NP_079023.2	BLOC-2 complex member HPS6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTP-dependent protein binding	IPI IPI: Inferred from physical interaction	22511774	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25189619	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	22511774	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in lysosome localization	IMP IMP: Inferred from mutant phenotype	25189619	GOA
involved in protein localization to membrane	IMP IMP: Inferred from mutant phenotype	22511774	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of BLOC-2 complex	IPI IPI: Inferred from physical interaction	15030569	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	25189619	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

BLOC-2 complex member HPS6

Hermansky-Pudlak syndrome-6 protein (HPS6)

Related Diseases

Diseases

Alias

Hermansky-Pudlak Syndrome 6

HPS6	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 6
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Hermansky-Pudlak Syndrome Due To Bloc-2 Deficiency

Hps Without Pulmonary Fibrosis

Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Hermansky-Pudlak Syndrome 1

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells	HPS1
Delta Storage Pool Disease	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Hermansky-Pudlak Syndrome, Type 1	Platelet Storage Pool Deficiency

Hermansky-Pudlak Syndrome 5

HPS5	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 5
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Oculocutaneous Albinism

Albinism, Oculocutaneous	Oca
Albinism Oculocutaneous	Oca - [Oculocutaneous Albinism]

Pulmonary Fibrosis

Fibrosis Of Lung

Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

BSSA2	Bernard-Soulier Syndrome Type A2
Bernard-Soulier Syndrome, Type A2	Bernard-Soulier Syndrome A2, Autosomal Dominant
Autosomal Dominant Benign Bernard-Soulier Syndrome	Benign Mediterranean Macrothrombocytopenia
Bernard-Soulier Syndrome, Benign Autosomal Dominant

Storage Pool Platelet Disease

Platelet Storage Pool Deficiency	Storage Pool Disease Of Platelets
Dense Body Defect	Platelet Dense Granule Deficiency
Platelet Storage Pool Defect	Platelet Storage Pool Diseases
Alpha Delta Granule Deficiency	Alpha Dense Granule Deficiency
Combined Alpha-Delta Platelet Storage Pool Deficiency

Hemophilia B

Christmas Disease	Factor Ix Deficiency
F9 Deficiency	HEMB
Plasma Thromboplastin Component Deficiency	Congenital Factor Ix Deficiency
Mild Hemophilia B	Severe Hemophilia B
Congenital Factor Ix Disorder	Deficiency, Functional Factor Ix
Hem B	Mild Congenital F9 Deficiency
Mild Congenital Factor Ix Deficiency	Moderate Hemophilia B
Moderate Congenital F9 Deficiency	Moderate Congenital Factor Ix Deficiency
Severe Congenital F9 Deficiency	Severe Congenital Factor Ix Deficiency
Bleeding Disorder In Hemophilia B Carriers	Congenital F9 Deficiency
Recessive X-Linked Hemophilia B

Bleeding Disorder, Platelet-Type, 14

Thromboxane Synthetase Deficiency	BDPLT14
Platelet-Type Bleeding Disorder 14	Thromboxane Synthase Deficiency

Bleeding Disorder, Platelet-Type, 8

Bleeding Disorder Due To P2ry12 Defect	Platelet-Type Bleeding Disorder 8
BDPLT8	Adp Platelet Receptor P2y12 Defect
P2y12 Defect	Bleeding Disorder Due To Adp Platelet Receptor P2y12 Defect
Bleeding Disorder Due To P2y12 Defect	Bleeding Disorder Due To P2rx1 Defect, Somatic
Bleeding Disorder, Platelet-Type 8	Adp Platelet Receptor P2y12 Deficiency
P2ry12 Deficiency	P2y12 Deficiency
Bleeding Disorder, Platelet Type 8

Pathologic Nystagmus

Nystagmus

Ghosal Hematodiaphyseal Dysplasia

Ghosal Syndrome	Ghosal Hematodiaphyseal Syndrome
GHDD	Diaphyseal Dysplasia-Anemia Syndrome
Ghosal Hematodiaphyseal Dysplasia Syndrome	Diaphyseal Dysplasia Associated With Anemia
Ghosal Hemato-Diaphyseal Dysplasia	Ghosal-Type Hemato-Diaphyseal Dysplasia

Albinism, Oculocutaneous, Type Iv

OCA4	Oculocutaneous Albinism Type 4
Oculocutaneous Albinism, Type Iv	Oculocutaneous Albinism Type Iv
Albinism, Oculocutaneous, 4

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Albinism, Oculocutaneous, Type Iii

Rufous Oculocutaneous Albinism	Oculocutaneous Albinism Type 3
OCA3	Roca
Xanthism	Oculocutaneous Albinism Type Iii
Albinism Iii	Oculocutaneous Albinism, Type Iii
Albinism 3	Albinism, Oculocutaneous, Type 3
Rufous Oca	Red Oculocutaneous Albinism
Xanthous Oculocutaneous Albinism	Albinism, Oculocutaneous, 3
Oca-Iii

Griscelli Syndrome, Type 1

Griscelli Syndrome Type 1	GS1
Griscelli Syndrome With Neurologic Impairment	Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome
Griscelli Syndrome, Cutaneous And Neurologic Type	Griscelli-Prunieras Syndrome Type 1
Hypopigmentation-Neurologic Impairment Syndrome	Griscelli Syndrome With Neurological Impairment
Griscelli Syndrome, Cutaneous And Neurological Type	Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts
Griscelli Syndrome 1	Griscelli Syndrome With Primary Neurologic Impairment

Albinism, Oculocutaneous, Type Ii

OCA2	Oculocutaneous Albinism Type 2
Oculocutaneous Albinism Type Ii	Albinoidism
Tyrosinase-Positive Oculocutaneous Albinism	Brown Oculocutaneous Albinism
Oculocutaneous Albinism, Tyrosinase-Positive	Albinism Ii
Albinism, Brown Oculocutaneous	Oculocutaneous Albinism, Type Ii, Modifier Of
Oculocutaneous Albinism, Type Ii	Albinism, Oculocutaneous, Type Ii, Modifier Of
Albinism 2	Albinism, Oculocutaneous, Type 2
Oculocutaneous Albinism Tyrosinase Positive	Oculocutaneous Albinism, Tyrosinase Positive
Albinism, Oculocutaneous, 2	Boca
Oca-2	Oculocutaneous Albinism Tyrosinase-Positive

Chediak-Higashi Syndrome

CHS	Chédiak-Higashi Syndrome
Chediak - Steinbrinck Anomaly	Chediak Higashi Syndrome
Chediak-Steinbrinck-Higashi Syndrome	Oculocutaneous Albinism With Leukocyte Defect
Chediak-Higashi Disease	Chediak-Higashi-Steinbrink Syndrome

Ocular Albinism

Albinism, Ocular	Oa
Xloa	Albinism Ocular

Griscelli Syndrome

Chediak-Higashi-Like Syndrome	Griscelli-Prunieras Syndrome
Partial Albinism-Immunodeficiency Syndrome	Griscelli Disease
Gs	Hypopigmentation Immunodeficiency Disease
Partial Albinism With Immunodeficiency	Immunodeficiency Syndrome With Hypopigmentation
Hypopigmentation-Immunodeficiency Disease

Hermansky-Pudlak Syndrome 3

HPS3	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 3
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Exotropia

Divergent Concomitant Strabismus	Divergent Strabismus
Divergent Squint	External Strabismus
Xt - [Exotropia]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06349	HPS6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HPS6	VGNC	VGNC:82346
Bos taurus	HPS6	VGNC	VGNC:29947
Mus musculus	HPS6	MGD	MGI:2181763
Macaca mulatta	HPS6	VGNC	VGNC:73418
Canis familiaris	HPS6	VGNC	VGNC:41778
Rattus norvegicus	HPS6	RGD	RGD:631341

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