Hps6
Gene Detail

Symbol Name ID

Hps6 Hermansky-Pudlak syndrome 6 MGI:2181763

Synonyms

5330434M19Rik, BLOC-2, ru, ruby eye

Feature Type

protein coding gene

Genetic Map

Chromosome 19

38.75 cM
Detailed Genetic Map ± 1 cM


Mapping data(38)

Sequence Map

Chr19:46003478-46006173 bp, + strand From NCBI annotation of GRCm38   2696 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:11691  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: BLOC-2 complex, Hps6 subunit
Gene Tree: Hps6

Human homologs

Human Homolog		HPS6, Hermansky-Pudlak syndrome 6
NCBI Gene ID		79803
neXtProt AC		NX_Q86YV9
Human Synonyms		RP11-302K17.1
Human Chr (Location)		10q24.32; chr10:103825124-103827795 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human HPS6

Alleles and phenotypes

All alleles(11) : Targeted(2) Spontaneous(8) Chemically induced(1)
 

Mutations in this gene result in hypopigmented hair and eyes, and increased clotting time due to a platelet dense granule defect.

 
Human Diseases Modeled Using Mouse Hps6 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	blood coagulation, melanocyte differentiation, ...
Component	cytoplasm, endoplasmic reticulum, ...
Function	protein binding

External Resources: FuncBase

Expression

cDNA source data(20)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(20) cDNA(20)
Microarray probesets(2)

Other database links

Ensembl Gene Model	ENSMUSG00000074811 (Evidence)
Entrez Gene	20170 (Evidence)
UniGene	101110
DFCI	TC1580503
DoTS	DT.91436725, DT.99847281
NIA Mouse Gene Index	U019515
Consensus CDS Project	CCDS29869.1
International Mouse Knockout Project Status	Hps6

Sequences

Length	Strain/Species
genomic	20170	NCBI Gene Model | MGI Sequence Detail	2696	C57BL/6J
transcript	NM_176785	RefSeq | MGI Sequence Detail	2696	C57BL/6
polypeptide	Q8BLY7	UniProt | EBI | MGI Sequence Detail	805	Not Applicable

All sequences(24) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(17 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017218	BLOC-2 complex, Hps6 subunit
Protein Ontology	PR:000008740	hermansky-Pudlak syndrome 6 protein

Graphical View of Protein Domain Structure

References

(Earliest) J:14915 So M, et al., On the inheritance of ruby eye in mice. Jpn J Genet. 1926;4:1-9
(Latest) J:191882 Rachel RA, et al., Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis. PLoS One. 2012;7(9):e42446
All references(87)

Other accession IDs

MGD-MRK-14249, MGI:2442441, MGI:98204