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Gene : NPHS1 Homo sapiens

Name  ? NPHS1 adhesion molecule, nephrin Cytological Location  19q13.12
Brief Description  NPHS1 adhesion molecule, nephrin
description  This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
  • synonyms:
  • NPHN,
  • NPHN,
  • NM_004646,
  • OTTHUMG00000180689,
  • CNF,
  • nephrin,
  • NPHS1,
  • HGNC:7908,
  • nephrosis 1, congenital, Finnish type (nephrin),
  • NPHS1, nephrin,
  • CNF,
  • uc002oby.4
  • identifiers:
  • 4868,
  • ENSG00000161270,
  • NPHS1

Genome feature

Region: gene ? Length: 26622  
Location: 19:35825372-35851993 reverse strand Cyto location: 19q13.12

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Proteins.


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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]


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

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Gene --> GO terms.



0 SN Ps

5 Cross References

11 Data Sets

11 Homologues

0 Located Features

0 Rna Seq Results