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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; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: HPS6
Protein SuperFamily: BLOC-2 complex, Hps6 subunit
Gene Tree: Hps6

Human
homologs
HPS6, Hermansky-Pudlak syndrome 6
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 79803
neXtProt AC: NX_Q86YV9

Human Chr (Location): 10q24.32; chr10:102065367-102068038 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human HPS6

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Chemically induced (ENU)(1) Spontaneous(8) Targeted(3)
Genomic Mutations involving Hps6 (1)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations in this gene result in hypopigmented hair and eyes, and increased clotting time due to a platelet dense granule defect.
 
Human Diseases Modeled in Mice Using Hps6 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(4)
Interactions
Hps6 interacts with 43 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process blood coagulation, melanocyte differentiation, ...
Component BLOC-2 complex, cytoplasm, ...
Function GTP-dependent protein binding, protein binding, ...
External Resources: FuncBase
Expression
cDNA source data(20)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase hps6    NEW 
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.99847281, DT.91436725
NIA Mouse Gene Index U019515
Consensus CDS Project CCDS29869.1
International Mouse Phenotyping Consortium Status Hps6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 20170 NCBI Gene Model | MGI Sequence Detail 2696 C57BL/6J ±  kb
transcript NM_176785 RefSeq | MGI Sequence Detail 2696 C57BL/6 
polypeptide Q8BLY7 UniProt | EBI | MGI Sequence Detail 805 Not Applicable 

For the selected sequences
All sequences(24) RefSeq(2) UniProt(1)
Polymorphisms
SNPs within 2kb(31 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:221916 Sharda A, et al., Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome. Blood. 2015 Mar 5;125(10):1633-42
All references(89)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-14249, MGI:2442441, MGI:98204

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory