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Gene : SPINK5 Homo sapiens

Name  ? serine peptidase inhibitor, Kazal type 5 Cytological Location  5q32
Brief Description  serine peptidase inhibitor, Kazal type 5
description  This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
  • synonyms:
  • FLJ97536,
  • NS,
  • NM_001127698,
  • DKFZp686K19184,
  • LETKI,
  • HGNC:15464,
  • FLJ99794,
  • uc003lox.3,
  • FLJ97596,
  • AJ228139,
  • NETS,
  • LEKTI,
  • NETS,
  • FLJ21544,
  • VAKTI,
  • lymphoepithelial Kazal-type-related inhibitor,
  • SPINK5,
  • OTTHUMG00000134305,
  • serine protease inhibitor, Kazal type 5,
  • LETKI,
  • VAKTI,
  • LEKTI,
  • NS
  • identifiers:
  • 11005,
  • ENSG00000133710,
  • SPINK5

Genome feature

Region: gene ? Length: 73391  
Location: 5:148063972-148137362 Cyto location: 5q32


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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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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

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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

2011 SN Ps

5 Cross References

18 Data Sets

17 Homologues

0 Located Features

90 Rna Seq Results