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Gene: HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2) Homo sapiens
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Symbol: HPS4
Name: HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Description: Exhibits Rab GTPase binding activity and protein homodimerization activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in several processes, including lysosome organization; melanosome assembly; and protein stabilization. Localizes to several cellular components, including BLOC-3 complex; cytoplasmic vesicle; and lysosome. Implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 4; and schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bK1048E9.4; bK1048E9.5; BLOC3S2; Hermansky-Pudlak syndrome 4; HPS4, biogenesis of lysosomal organelles complex 3 subunit 2; KIAA1667; LE; light-ear protein homolog
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2226,443,423 - 26,483,837 (-)EnsemblGRCh38hg38GRCh38
GRCh382226,443,109 - 26,483,863 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372226,846,848 - 26,879,829 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362225,177,446 - 25,209,820 (-)NCBINCBI36hg18NCBI36
Build 342225,171,999 - 25,204,374NCBI
Celera2210,651,342 - 10,683,694 (-)NCBI
Cytogenetic Map22q12.1NCBI
HuRef229,794,422 - 9,827,382 (-)NCBIHuRef
CHM1_12226,806,304 - 26,839,247 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
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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 HPS4
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1317629
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.