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Protein Coding Gene : Nphs2 nephrosis 2, podocin

Primary Identifier  MGI:2157018 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  170484
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Acts upstream of or within gene expression. Located in cytoplasmic side of plasma membrane. Is active in cell periphery. Colocalizes with slit diaphragm. Is expressed in liver; metanephros; and ureter. Used to study nephrotic syndrome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 2. Orthologous to human NPHS2 (NPHS2 stomatin family member, podocin).
PHENOTYPE: Mice homozygous for disruptions in this gene display kidney glomerular defects leading to blood and urine chemistry abnormalities. Death usually occurs before 5 weeks of age. [provided by MGI curators]
  • synonyms:
  • MGI:2138323,
  • nephrosis 2, podocin,
  • podocin,
  • expressed sequence AI790225,
  • AI790225,
  • Nphs2

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

2 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

5 Driver For