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Gene : BLOC1S4 Homo sapiens

Name  ? biogenesis of lysosomal organelles complex 1 subunit 4 Cytological Location  4p16.1
Brief Description  biogenesis of lysosomal organelles complex 1 subunit 4
Description  This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]
  • synonyms:
  • uc003gjp.2,
  • HGNC:24206,
  • NM_018366,
  • CNO,
  • cappuccino homolog (mouse),
  • CNO,
  • FLJ11230,
  • BLOC1S4,
  • BC001818,
  • BLOS4,
  • OTTHUMG00000125510,
  • BCAS4L,
  • BCAS4L
  • identifiers:
  • 55330,
  • ENSG00000186222,
  • BLOC1S4

Genome feature

Region: gene ? Length: 1491  
Location: 4:6716174-6717664 Cyto location: 4p16.1


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Function

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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

0 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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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

31 SN Ps

5 Cross References

14 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results