InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Nphs2

Summary

InnateDB Gene

IDBG-200232.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Nphs2

Gene Name

nephrosis 2 homolog, podocin (human)

Synonyms

Species

Mus musculus

Ensembl Gene

ENSMUSG00000026602

Encoded Proteins

IDBP-200234

nephrosis 2 homolog, podocin (human)

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 1:156310727-156328035

Strand

Forward strand

Band

Transcripts

ENSMUST00000027896

ENSMUSP00000027896

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [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: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

Bos taurus

Gene ID

Gene Order

ENSG00000116218

View Gene Order

ENSBTAG00000002167

Not yet available

Pathways

NETPATH

REACTOME

REACT_257032

Nephrin interactions pathway

REACT_223082

Cell-Cell communication pathway

KEGG

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

REACT_23832

Nephrin interactions pathway

REACT_111155

Cell-Cell communication pathway

KEGG

INOH

PID NCI

nephrin_neph1_pathway

Nephrin/Neph1 signaling in the kidney podocyte

Cross-References

SwissProt

Q91X05

TrEMBL

C0LL75 C0LL94 C0LL99

UniProt Splice Variant

Entrez Gene

170484

UniGene

Mm.289099

RefSeq

NM_130456

OMIM

CCDS

CCDS15391

HPRD

IMGT

MGI ID

MGI:2157018

MGI Symbol

Nphs2

EMBL

AJ302048 AK052746 AY050309 BC067401 FJ715751 FJ715757 FJ715758 FJ715770 FJ715775

GenPept

AAH67401 AAL06146 ACN67076 ACN67082 ACN67083 ACN67095 ACN67100 BAC35128 CAC44636

RNA Seq Atlas

170484