Nphs2
Gene Detail

Symbol Name ID

Nphs2 nephrosis 2 homolog, podocin (human) 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; chr1:179519674-179545084 (-)  GRCh37.p10
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: (14 annotations)

Process	actin cytoskeleton reorganization
Component	cell-cell junction, integral to membrane, ...
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (17 records)
Data Summary: Results (31)    Tissues (10)    Images (18)
Theiler Stages: 23, 26, 28

Assay Type	Results
Immunohistochemistry	2
RNA in situ	27
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 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 Knockout Project Status	Nphs2

Sequences

Length	Strain/Species
genomic	170484	NCBI Gene Model | MGI Sequence Detail	17301	C57BL/6J
transcript	NM_130456	RefSeq | MGI Sequence Detail	3108	C57BL/6
polypeptide	Q91X05	UniProt | EBI | MGI Sequence Detail	385	Not Applicable

All sequences(28) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(139 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:189818 Haege S, et al., CXC chemokine receptor 7 (CXCR7) regulates CXCR4 protein expression and capillary tuft development in mouse kidney. PLoS One. 2012;7(8):e42814
All references(57)

Other accession IDs

MGI:2138323