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Gene: HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2) Homo sapiens
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Symbol: HPS5
Name: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Description: Predicted to be involved in blood coagulation; organelle organization; and pigmentation. Localizes to BLOC-2 complex. Implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIBP63; alpha integrin binding protein 63; alpha-integrin-binding protein 63; BLOC2S2; Hermansky-Pudlak syndrome 5 protein; HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; KIAA1017; ruby-eye protein 2 homolog
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1118,278,668 - 18,322,198 (-)EnsemblGRCh38hg38GRCh38
GRCh381118,278,670 - 18,322,498 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371118,300,217 - 18,343,751 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361118,256,793 - 18,300,297 (-)NCBINCBI36hg18NCBI36
Celera1118,432,440 - 18,475,937 (-)NCBI
Cytogenetic Map11p15.1NCBI
HuRef1117,982,720 - 18,026,234 (-)NCBIHuRef
CHM1_11118,299,692 - 18,343,209 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on HPS5
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1323623
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.