NPHS2

GENERAL INFORMATION

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Gene name

NPHS2

Gene description

Nephrosis 2, idiopathic, steroid-resistant (podocin)

Protein class

Disease related genes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (kidney)
GTEx:Tissue enriched (kidney)

Protein evidence

Evidence at protein level

Protein localization

Selective expression in renal glomeruli.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA049486 , CAB037267
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression



GENE INFORMATION

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Gene name

NPHS2 (HGNC Symbol)

Synonyms

PDCN, SRN1

Description

Nephrosis 2, idiopathic, steroid-resistant (podocin) (HGNC Symbol)

Entrez gene summary

This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Chromosome

1

Cytoband

q25.2

Chromosome location (bp)

179550539 - 179575952

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000116218 (version 78.38)

Entrez gene

7827

UniProt

Q9NP85 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NP85

Antibodypedia

NPHS2 antibodies


PROTEIN BROWSER

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ENST00000367615
 
ENST00000367616
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NPHS2-001 ENSP00000356587
ENST00000367615
Q9NP85
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Show » Show » 383 42.2 No 1
NPHS2-002 ENSP00000356588
ENST00000367616
Q9NP85
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Show » Show » 315 34.4 No 1