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Nphs2
Gene Detail
Symbol

Name
ID
Nphs2
nephrosis 2, podocin
MGI:2157018
Synonyms
podocin
Feature Type
protein coding gene
Genetic Map
Chromosome 1
67.71 cM, cytoband G3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr1:156310727-156328035 bp, + strand
From VEGA annotation of GRCm38

  17309 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:22826  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: NPHS2
Gene Tree: Nphs2

Human
homologs
NPHS2, nephrosis 2, idiopathic, steroid-resistant (podocin)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 7827
neXtProt AC: NX_Q9NP85

Human Synonyms: PDCN, SRN1

Human Chr (Location): 1q25.2; chr1:179550539-179575976 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human NPHS2

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled in Mice Using Nphs2 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Nphs2 interacts with 244 markers (Mir1b, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process actin cytoskeleton reorganization, excretion
Component cell-cell junction, extracellular exosome, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (20 records)
Data Summary: Results (79)    Tissues (52)    Images (20)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
RNA in situ 75
Western blot 2
cDNA source data(15)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nphs2 ; ZFIN nphs2    NEW 
Molecular
reagents
All nucleic(17) cDNA(15) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000050345 (Evidence)
Ensembl Gene Model ENSMUSG00000026602 (Evidence)
Entrez Gene 170484 (Evidence)
UniGene 289099
DFCI TC1584837
DoTS DT.55209573
NIA Mouse Gene Index U000946
Consensus CDS Project CCDS15391.1
International Mouse Phenotyping Consortium Status Nphs2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000050345 VEGA Gene Model | MGI Sequence Detail 17309 C57BL/6J ±  kb
transcript OTTMUST00000127804 VEGA | MGI Sequence Detail 3116 Not Applicable 
polypeptide OTTMUSP00000068877 VEGA | MGI Sequence Detail 385 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(8) UniProt(6)
Polymorphisms
SNPs within 2kb(281 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001107 Band 7 protein
InterPro IPR028509 Podocin
InterPro IPR001972 Stomatin family
Protein Ontology PR:000011366 podocin
References
(Earliest) J:73142 Schwarz K, et al., Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest. 2001 Dec;108(11):1621-9
(Latest) J:198192 Huang J, et al., The transcription factor Sry-related HMG box-4 (SOX4) is required for normal renal development in vivo. Dev Dyn. 2013 Jun;242(6):790-9
All references(61)
Disease annotation references (2)
Other
accession IDs
MGI:2138323

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory