help  | about  | cite  | software

Gene : HPS4 Homo sapiens

Name  ? HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 Cytological Location  22q12.1
Brief Description  HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Description  This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
  • synonyms:
  • Hermansky-Pudlak syndrome 4,
  • NM_022081,
  • uc003acl.5,
  • OTTHUMG00000030459,
  • BLOC3S2,
  • HPS4,
  • KIAA1667,
  • HGNC:15844,
  • BLOC3S2,
  • LE,
  • LE
  • identifiers:
  • 89781,
  • ENSG00000100099,
  • HPS4

Genome feature

Region: gene ? Length: 40755  
Location: 22:26443109-26483863 reverse strand Cyto location: 22q12.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

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

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results