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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
Chr1:156310735-156328035 bp, + strand
From NCBI annotation of GRCm38

  17301 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 zebrafish

Gene Tree: Nphs2

Human
homologs
Human Homolog NPHS2, nephrosis 2, idiopathic, steroid-resistant (podocin)
NCBI Gene ID 7827
neXtProt AC  NX_Q9NP85
Human Synonyms  PDCN, SRN1
Human Chr (Location)  1q25.2; chr1:179550539-179575951 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human NPHS2
Alleles
and
phenotypes
All alleles(7) : Targeted(7)
 
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 Using Mouse Nphs2 (1)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process actin cytoskeleton reorganization, excretion
Component cell-cell junction, extracellular vesicular exosome, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (20 records)
Data Summary: Results (79)    Tissues (52)    Images (20)
Theiler Stages: 23, 26, 28
Assay TypeResults
Immunohistochemistry 2
RNA in situ 75
Western blot 2
cDNA source data(15)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(17) cDNA(15) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000026602 (Evidence)
Entrez Gene170484 (Evidence)
UniGene289099
DFCITC1584837
DoTSDT.55209573
NIA Mouse Gene IndexU000946
Consensus CDS ProjectCCDS15391.1
International Mouse Knockout Project StatusNphs2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 170484 NCBI Gene Model | MGI Sequence Detail 17301 C57BL/6J ±  kb
transcript NM_130456 RefSeq | MGI Sequence Detail 3108 C57BL/6 
polypeptide Q91X05 UniProt | EBI | MGI Sequence Detail 385 Not Applicable 

For the selected sequences
All sequences(32) RefSeq(6) UniProt(5)
Polymorphisms SNPs within 2kb(281 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001107 Band 7 protein
InterPro IPR001972 Stomatin
Protein Ontology PR:000011366 podocin
Graphical View of Protein Domain Structure
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(60)
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
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory