NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) [Homo sapiens] - Gene

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Summary

Official Symbol: NPHS2provided by HGNC
Official Full Name: nephrosis 2, idiopathic, steroid-resistant (podocin)provided by HGNC
Primary source: HGNC:13394
See related: Ensembl:ENSG00000116218; HPRD:05303; MIM:604766; Vega:OTTHUMG00000035252
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PDCN; SRN1
Summary: 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]

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Genomic context

Location :: 1q25.2

Sequence :: Chromosome: 1; NC_000001.10 (179519674..179545084, complement)

See NPHS2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

NPHS2 mutations account for a significant proportion of all nephrotic patients, roughly corresponding to a mutation detection rate of 45-55% in families with recessive traits and 8-20% of sporadic cases.
Title: Foothold of NPHS2 mutations in primary nephrotic syndrome.
we are for the first time able to prove the expression of a novel podocin isoform (isoform 2), exclusively and constitutively expressed in human podocytes, and reveal singular extrarenal podocin expression in human and murine testis
Title: New perspectives on the renal slit diaphragm protein podocin.
Data show that the main slit diaphragm proteins, nephrin and podocin, are affected from the earlier stages of lupus nephritis and their expression correlates with disease histology.
Title: Podocyte main slit diaphragm proteins, nephrin and podocin, are affected at early stages of lupus nephritis and correlate with disease histology.
The urinary mRNA profiles of synaptopodin, podocalyxin, CD2-AP, alpha-actin4, and podocin were found to increase with the progression of diabetic nephropathy.
Title: Urinary podocyte-associated mRNA profile in various stages of diabetic nephropathy.
NPHS2 mutation analysis has a clinical value in both childhood- and adult-onset steroid-resistant nephrotic syndrome patients.
Title: Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children were detected in NPHS2.
Title: Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.
plasmapheresis can result in clinical improvement and stabilization of SRNS caused by podocine mutation. A combined heterozygous form of two NPHS2 gene mutations (p.R138Q and p.V290M) was diagnosed
Title: Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation.
NPHS2 mutations are not a major cause of familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group.
Title: [Mutations in NPHS2 in familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group].
Coexpression of CIN85/Ruk(L) with CD2AP led to a decreased binding of CIN85/Ruk(L) to nephrin and podocin, which indicates a functional competition between CD2AP and CIN85/Ruk(L).
Title: CIN85/RukL is a novel binding partner of nephrin and podocin and mediates slit diaphragm turnover in podocytes.
NPHS1 mutations associated with an earlier onset of congenital nephrotic syndrome and worse renal outcomes than NPHS2 mutations.
Title: Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.

Submit: New GeneRIF Correction See all (67)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
Q9NP85	Q9Y5K6	CD2AP	HPRD	PubMed
Q9NP85	Q96J84	KIRREL	HPRD	PubMed
Q9NP85	Q8IZU9	KIRREL3	HPRD	PubMed
Q9NP85	O60500	NPHS1	HPRD	PubMed
BioGRID:113590	BioGRID:117140	CD2AP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:113590	BioGRID:110928	NPHS1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:113590	BioGRID:207694	Nphs1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113590	BioGRID:228352	Nphs2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113590	BioGRID:119029	SH3KBP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:113590	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

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

Process	Evidence Code	Pubs
actin cytoskeleton reorganization	IDA Inferred from Direct Assay more info	PubMed
excretion	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
membrane	TAS Traceable Author Statement more info
membrane raft	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info
protein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: podocin

Names: podocin

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_007535.1 RefSeqGene

Range

5001..30411

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014625.2 → NP_055440.1 podocin

Status: REVIEWED

Source sequence(s)

AJ279254, AL160286, BC029141, BX095913

Consensus CDS

CCDS1331.1

UniProtKB/Swiss-Prot

Q9NP85

Related

ENSP00000356587, OTTHUMP00000033186, ENST00000367615, OTTHUMT00000085283

Conserved Domains (1) summary

cd03403
Location:128 – 343
Blast Score: 512

Band_7_stomatin_like; Band_7_stomatin_like: A subgroup of the band 7 domain of flotillin (reggie) like proteins similar to stomatin and podicin (two lipid raft-associated integral membrane proteins). Individual proteins of this band 7 domain family may cluster to form ...

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

179519674..179545084, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

150746292..150771710, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AJ279246.1	CAB83272.1
genomic	AL160286.16	CAI15397.1
		CAI15398.1
genomic	CH471067.1	EAW91049.1
		EAW91050.1
mRNA	AJ279254.1	CAB83216.1
mRNA	BC029141.1	AAH29141.1
mRNA	BX095913.1	None