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Gene : HPS5 Homo sapiens

Name  ? HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 Cytological Location  11p15.1
Brief Description  HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Description  This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • BLOC2S2,
  • alpha-integrin-binding protein 63,
  • HPS5,
  • AB023234,
  • BLOC2S2,
  • AIBP63,
  • uc001mod.2,
  • RU2,
  • AIBP63,
  • HGNC:17022,
  • NM_181507,
  • OTTHUMG00000166612,
  • Ruby-eye protein 2 homolog,
  • Hermansky-Pudlak syndrome 5
  • identifiers:
  • 11234,
  • ENSG00000110756,
  • HPS5

Genome feature

Region: gene ? Length: 43829  
Location: 11:18278670-18322498 reverse strand Cyto location: 11p15.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

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)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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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

3753 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results