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HPS6 (HPS6, biogenesis of lysosomal organelles complex 2 subunit 3)

Identity

Alias_namesHermansky-Pudlak syndrome 6
Alias_symbol (synonym)FLJ22501
BLOC2S3
HGNC (Hugo) HPS6
LocusID (NCBI) 79803
Atlas_Id 52631
Location 10q24.32  [Link to chromosome band 10q24]
Location_base_pair Starts at 103825124 and ends at 103827795 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HPS6 (10q24.32) / STX16 (20q13.32)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HPS6   18817
LRG (Locus Reference Genomic)LRG_564
Cards
Entrez_Gene (NCBI)HPS6  79803  HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
AliasesBLOC2S3
GeneCards (Weizmann)HPS6
Ensembl hg19 (Hinxton)ENSG00000166189 [Gene_View]  chr10:103825124-103827795 [Contig_View]  HPS6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166189 [Gene_View]  chr10:103825124-103827795 [Contig_View]  HPS6 [Vega]
ICGC DataPortalENSG00000166189
TCGA cBioPortalHPS6
AceView (NCBI)HPS6
Genatlas (Paris)HPS6
WikiGenes79803
SOURCE (Princeton)HPS6
Genetics Home Reference (NIH)HPS6
Genomic and cartography
GoldenPath hg19 (UCSC)HPS6  -     chr10:103825124-103827795 +  10q24.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HPS6  -     10q24.32   [Description]    (hg38-Dec_2013)
EnsemblHPS6 - 10q24.32 [CytoView hg19]  HPS6 - 10q24.32 [CytoView hg38]
Mapping of homologs : NCBIHPS6 [Mapview hg19]  HPS6 [Mapview hg38]
OMIM607522   614075   
Gene and transcription
Genbank (Entrez)AF536238 AK026154 BC009258 BC011594 BC014993
RefSeq transcript (Entrez)NM_024747
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_012029 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)HPS6
Cluster EST : UnigeneHs.125133 [ NCBI ]
CGAP (NCI)Hs.125133
Alternative Splicing GalleryENSG00000166189
Gene ExpressionHPS6 [ NCBI-GEO ]   HPS6 [ EBI - ARRAY_EXPRESS ]   HPS6 [ SEEK ]   HPS6 [ MEM ]
Gene Expression Viewer (FireBrowse)HPS6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79803
GTEX Portal (Tissue expression)HPS6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86YV9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86YV9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86YV9
Splice isoforms : SwissVarQ86YV9
PhosPhoSitePlusQ86YV9
Domains : Interpro (EBI)BLOC-2_complex_Hps6_subunit   
Domain families : Pfam (Sanger)HPS6 (PF15702)   
Domain families : Pfam (NCBI)pfam15702   
Conserved Domain (NCBI)HPS6
DMDM Disease mutations79803
Blocks (Seattle)HPS6
SuperfamilyQ86YV9
Human Protein AtlasENSG00000166189
Peptide AtlasQ86YV9
HPRD08471
IPIIPI00015505   
Protein Interaction databases
DIP (DOE-UCLA)Q86YV9
IntAct (EBI)Q86YV9
FunCoupENSG00000166189
BioGRIDHPS6
STRING (EMBL)HPS6
ZODIACHPS6
Ontologies - Pathways
QuickGOQ86YV9
Ontology : AmiGOendoplasmic reticulum  organelle organization  blood coagulation  membrane  Rab GTPase binding  melanocyte differentiation  GTP-dependent protein binding  BLOC-2 complex  early endosome membrane  protein localization to membrane  
Ontology : EGO-EBIendoplasmic reticulum  organelle organization  blood coagulation  membrane  Rab GTPase binding  melanocyte differentiation  GTP-dependent protein binding  BLOC-2 complex  early endosome membrane  protein localization to membrane  
NDEx NetworkHPS6
Atlas of Cancer Signalling NetworkHPS6
Wikipedia pathwaysHPS6
Orthology - Evolution
OrthoDB79803
GeneTree (enSembl)ENSG00000166189
Phylogenetic Trees/Animal Genes : TreeFamHPS6
HOVERGENQ86YV9
HOGENOMQ86YV9
Homologs : HomoloGeneHPS6
Homology/Alignments : Family Browser (UCSC)HPS6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHPS6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPS6
dbVarHPS6
ClinVarHPS6
1000_GenomesHPS6 
Exome Variant ServerHPS6
ExAC (Exome Aggregation Consortium)HPS6 (select the gene name)
Genetic variants : HAPMAP79803
Genomic Variants (DGV)HPS6 [DGVbeta]
DECIPHER (Syndromes)10:103825124-103827795  ENSG00000166189
CONAN: Copy Number AnalysisHPS6 
Mutations
ICGC Data PortalHPS6 
TCGA Data PortalHPS6 
Broad Tumor PortalHPS6
OASIS PortalHPS6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHPS6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHPS6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch HPS6
DgiDB (Drug Gene Interaction Database)HPS6
DoCM (Curated mutations)HPS6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HPS6 (select a term)
intoGenHPS6
Cancer3DHPS6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607522    614075   
Orphanet19196   
MedgenHPS6
Genetic Testing Registry HPS6
NextProtQ86YV9 [Medical]
TSGene79803
GENETestsHPS6
Huge Navigator HPS6 [HugePedia]
snp3D : Map Gene to Disease79803
BioCentury BCIQHPS6
ClinGenHPS6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79803
Chemical/Pharm GKB GenePA134989637
Clinical trialHPS6
Miscellaneous
canSAR (ICR)HPS6 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHPS6
EVEXHPS6
GoPubMedHPS6
iHOPHPS6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:39:46 CET 2016

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