Gene

nphs2

ID
ZDB-GENE-051102-2
Name
NPHS2 stomatin family member, podocin
Symbol
nphs2 Nomenclature History
Previous Names
  • nphs2l (1)
  • podocin (1)
  • si:dkey-171o17.6
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Involved in pronephric glomerulus development. Predicted to localize to plasma membrane. Is expressed in pronephric glomerular basement membrane; pronephric glomerulus; pronephric podocyte; pronephros; and renal glomerulus. Used to study proteinuria. Human ortholog(s) of this gene implicated in nephrotic syndrome type 2. Orthologous to human NPHS2 (NPHS2 stomatin family member, podocin).
Genome Resources
Note
None
Expression
All Expression Data
33 figures from 27 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nphs2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
nephrotic syndrome type 2 Alliance Nephrotic syndrome, type 2 600995
Associated With nphs2 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001107 Band 7 domain
Family IPR001972 Stomatin/HflK/HflC family
Family IPR043202 Band-7 stomatin-like
Homologous_superfamily IPR036013 Band 7/SPFH domain superfamily
Domain Details Per Protein
Protein Length Band 7 domain Band 7/SPFH domain superfamily Band-7 stomatin-like Stomatin/HflK/HflC family
UniProtKB:A4FVJ0 391
UniProtKB:Q1L982 406
UniProtKB:Q52TF2 390
UniProtKB:Q1KMS4 391
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-nphs2 polyclonal Rabbit
  • WB
Sigma-Aldrich
1
Ab1-nphs2 polyclonal Rabbit
  • IHC
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations