Nphs2 nephrosis 2, podocin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nphs2provided by MGI
Official Full Name: nephrosis 2, podocinprovided by MGI
Primary source: MGI:MGI:2157018
See related: Ensembl:ENSMUSG00000026602 AllianceGenome:MGI:2157018
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PDCN; SRN1
Summary: Acts upstream of or within gene expression. Located in cytoplasmic side of plasma membrane. Is active in cell periphery. Colocalizes with slit diaphragm. Is expressed in liver; metanephros; and ureter. Used to study nephrotic syndrome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 2. Orthologous to human NPHS2 (NPHS2 stomatin family member, podocin). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward kidney adult (RPKM 17.5) See more
Orthologs: human all
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Genomic context

Location:: 1 G3; 1 67.71 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (156138105..156155605)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (156310535..156328035)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

c-Cbl induced podocin ubiquitination contributes to the podocytes injury in diabetic nephropathy.
Title: c-Cbl induced podocin ubiquitination contributes to the podocytes injury in diabetic nephropathy.
Deletion of protein tyrosine phosphatase SHP-1 restores SUMOylation of podocin and reverses the progression of diabetic kidney disease.
Title: Deletion of protein tyrosine phosphatase SHP-1 restores SUMOylation of podocin and reverses the progression of diabetic kidney disease.
Proteolytic cleavage of Podocin by Matriptase exacerbates podocyte injury.
Title: Proteolytic cleavage of Podocin by Matriptase exacerbates podocyte injury.
While R140Q podocin mRNA expression was elevated, protein abundance was reduced by more than 50% within one week following induction
Title: An inducible mouse model of podocin-mutation-related nephrotic syndrome.
Ubiquitin ligase Ubr4 is a key component of the podocin interactome purified from cultured podocytes and native glomeruli. Ubiquitylomic analysis of mouse glomeruli revealed that podocin is ubiquitylated at two lysine residues. Ubiquitylation of one podocin site, K301, do not only target podocin for proteasomal degradation, but may also affect stability and disassembly of the multimeric complex.
Title: The ubiquitin ligase Ubr4 controls stability of podocin/MEC-2 supercomplexes.
ATP evokes activation of TRPC6 channels in podocytes through P2Y receptors, podocin, and generation of reactive oxygen species.
Title: ATP acting through P2Y receptors causes activation of podocyte TRPC6 channels: role of podocin and reactive oxygen species.
the carboxyl terminus of podocin/MEC-2 has to be placed at the inner leaflet of the plasma membrane to mediate cholesterol binding and contribute to ion channel activity.
Title: A disease-causing mutation illuminates the protein membrane topology of the kidney-expressed prohibitin homology (PHB) domain protein podocin.
Podocin is necessary for assembly of the NOX2-TRPC6 complex in lipid rafts.
Title: NOX2 interacts with podocyte TRPC6 channels and contributes to their activation by diacylglycerol: essential role of podocin in formation of this complex.
study shows a variety of mechanical stimuli cause activation of endogenously expressed TRPC6 channels of podocytes; also that podocin reduces sensitivity of TRPC6 channels to mechanical stimuli, so that a loss of podocin function would result in hyperactivation of TRPC6 channels in foot processes
Title: Opposing effects of podocin on the gating of podocyte TRPC6 channels evoked by membrane stretch or diacylglycerol.
These data descrived the importance of concomitant decreases in podocin, CD2AP and tensin2 during septic acute renal failure-associated proteinuria.
Title: Decreases in podocin, CD2-associated protein (CD2AP) and tensin2 may be involved in albuminuria during septic acute renal failure.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC343810P1 (e-PCR)
- UniSTS:273192

Nphs2 (e-PCR), detects polymorphism
- UniSTS:527456

AI790225 (e-PCR)
- UniSTS:165112

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephric podocyte development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cell periphery	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
colocalizes_with slit diaphragm	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with slit diaphragm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: podocin

Names: nephrosis 2 homolog, podocin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_130456.4 → NP_569723.1 podocin

See identical proteins and their annotated locations for NP_569723.1

Status: VALIDATED

Source sequence(s)

AC161414, FJ715770

Consensus CDS

CCDS15391.1

UniProtKB/Swiss-Prot

Q8BWE6, Q91X05, Q91Z95

UniProtKB/TrEMBL

C0LL94, C0LL95

Related

ENSMUSP00000027896.5, ENSMUST00000027896.10

Conserved Domains (1) summary

cd08827
Location:124 → 346

SPFH_podocin; Podocin, a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

156138105..156155605

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011238765.2 → XP_011237067.1 podocin isoform X3

Conserved Domains (1) summary

cl19107
Location:124 → 179

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_006496683.4 → XP_006496746.1 podocin isoform X1

Conserved Domains (1) summary

cl19107
Location:124 → 267

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
XM_006496684.3 → XP_006496747.1 podocin isoform X2

Conserved Domains (1) summary

cl19107
Location:2 → 203

SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily