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Gene : HPS3 Homo sapiens

Name  ? HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 Cytological Location  3q24
Brief Description  HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
description  This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
  • synonyms:
  • HPS3,
  • OTTHUMG00000159548,
  • HGNC:15597,
  • AY033141,
  • SUTAL,
  • BLOC2S1,
  • Hermansky-Pudlak syndrome 3,
  • BLOC2S1,
  • SUTAL,
  • uc003ewu.2,
  • NM_032383
  • identifiers:
  • 84343,
  • ENSG00000163755,
  • HPS3

Genome feature

Region: gene ? Length: 43613  
Location: 3:149129584-149173196 Cyto location: 3q24


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Function

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0 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

206 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results