Version 5.4
Bos taurus Gene: NPHS2
Summary
InnateDB Gene IDBG-636772.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPHS2
Gene Name podocin
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000002167
Encoded Proteins
IDBP-688746
nephrosis 2, idiopathic, steroid-resistant (podocin)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000116218:
This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]
This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:62225042-62244587
Strand Reverse strand
Band
Transcripts
ENSBTAT00000002806 ENSBTAP00000002806
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007588 excretion
GO:0031532 actin cytoskeleton reorganization
GO:0072249 metanephric glomerular visceral epithelial cell development
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0016020 membrane
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane
GO:0036057 slit diaphragm
GO:0043234 protein complex
GO:0045121 membrane raft
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000116218
View Gene Order
ENSMUSG00000026602
View Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_23832
Nephrin interactions pathway
REACT_111155
Cell-Cell communication pathway
REACT_257032
Nephrin interactions pathway
REACT_223082
Cell-Cell communication pathway
KEGG
INOH
PID NCI
nephrin_neph1_pathway
Nephrin/Neph1 signaling in the kidney podocyte
Cross-References
SwissProt
TrEMBL F1N2L6
UniProt Splice Variant
Entrez Gene 537633
UniGene Bt.74312
RefSeq NM_001206107 XM_005217101 XM_005217102
HUGO HGNC:13394
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02043464 DAAA02043465 DAAA02043466 DAAA02043467
GenPept
RNA Seq Atlas 537633

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca