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Gene : EXPH5 Homo sapiens

Name  ? exophilin 5 Cytological Location  11q22.3
Brief Description  exophilin 5
Description  The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
  • synonyms:
  • uc001pkk.3,
  • EXPH5,
  • SLAC2B,
  • HGNC:30578,
  • synaptotagmin-like homologue lacking C2 domains b,
  • OTTHUMG00000166536,
  • SLAC2-B,
  • SLAC2-B,
  • NM_015065
  • identifiers:
  • 23086,
  • ENSG00000110723,
  • EXPH5

Genome feature

Region: gene ? Length: 102084  
Location: 11:108505431-108607514 reverse strand Cyto location: 11q22.3


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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 --> 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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

529 SN Ps

5 Cross References

18 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results