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Protein

Podocin

Gene

NPHS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.

GO - Biological processi

  • actin cytoskeleton reorganization Source: UniProtKB
  • excretion Source: ProtInc
  • metanephric glomerular visceral epithelial cell development Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000116218-MONOMER.
ReactomeiR-HSA-373753. Nephrin interactions.

Protein family/group databases

TCDBi8.A.21.1.2. the stomatin/podocin/band 7/nephrosis.2/spfh (stomatin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Podocin
Gene namesi
Name:NPHS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:13394. NPHS2.

Subcellular locationi

Isoform 2 :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 102CytoplasmicSequence analysisAdd BLAST102
Intramembranei103 – 123Sequence analysisAdd BLAST21
Topological domaini124 – 383CytoplasmicSequence analysisAdd BLAST260

GO - Cellular componenti

  • cell-cell junction Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • intrinsic component of the cytoplasmic side of the plasma membrane Source: UniProtKB
  • membrane raft Source: UniProtKB
  • plasma membrane Source: Reactome
  • protein complex Source: UniProtKB
  • slit diaphragm Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 2 (NPHS2)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder.
See also OMIM:600995
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0721343R → G in NPHS2. 1 Publication1
Natural variantiVAR_07213518R → T in NPHS2. 1 Publication1
Natural variantiVAR_07213626R → M in NPHS2. 1 Publication1
Natural variantiVAR_07213728K → M in NPHS2. 1 Publication1
Natural variantiVAR_07121229A → T in NPHS2. 1 PublicationCorresponds to variant rs561887984dbSNPEnsembl.1
Natural variantiVAR_07213830E → K in NPHS2. 1 Publication1
Natural variantiVAR_07213930E → Q in NPHS2. 1 Publication1
Natural variantiVAR_07214039Q → L in NPHS2. 1 Publication1
Natural variantiVAR_07214189P → T in NPHS2. 1 Publication1
Natural variantiVAR_01023292G → C in NPHS2. 1 PublicationCorresponds to variant rs74315345dbSNPEnsembl.1
Natural variantiVAR_07121697G → S in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant rs200913299dbSNPEnsembl.1
Natural variantiVAR_071217107L → P in NPHS2. 1 Publication1
Natural variantiVAR_072142115M → T in NPHS2. 1 Publication1
Natural variantiVAR_071218116T → P in NPHS2. 1 Publication1
Natural variantiVAR_071219118P → L in NPHS2. 2 Publications1
Natural variantiVAR_072143122W → L in NPHS2. 1 PublicationCorresponds to variant rs750332447dbSNPEnsembl.1
Natural variantiVAR_071220122W → S in NPHS2. 1 PublicationCorresponds to variant rs750332447dbSNPEnsembl.1
Natural variantiVAR_072144124C → W in NPHS2. 1 Publication1
Natural variantiVAR_072145126K → N in NPHS2. 1 Publication1
Natural variantiVAR_010233138R → Q in NPHS2. 2 PublicationsCorresponds to variant rs74315342dbSNPEnsembl.1
Natural variantiVAR_072146139L → R in NPHS2. 1 Publication1
Natural variantiVAR_072147142L → P in NPHS2. 1 PublicationCorresponds to variant rs12240233dbSNPEnsembl.1
Natural variantiVAR_010234160D → G in NPHS2. 2 PublicationsCorresponds to variant rs74315346dbSNPEnsembl.1
Natural variantiVAR_071221168R → C in NPHS2. 2 PublicationsCorresponds to variant rs786204583dbSNPEnsembl.1
Natural variantiVAR_071222168R → H in NPHS2. 1 PublicationCorresponds to variant rs530318579dbSNPEnsembl.1
Natural variantiVAR_071223168R → S in NPHS2. 1 Publication1
Natural variantiVAR_071224172L → V in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071225175P → V in NPHS2; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_010235180V → M in NPHS2. 2 PublicationsCorresponds to variant rs74315347dbSNPEnsembl.1
Natural variantiVAR_071226183D → Y in NPHS2. 1 Publication1
Natural variantiVAR_071227187M → I in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072148192I → V in NPHS2. 1 Publication1
Natural variantiVAR_071228208A → T in NPHS2. 1 PublicationCorresponds to variant rs200587413dbSNPEnsembl.1
Natural variantiVAR_072149211S → A in NPHS2. 1 Publication1
Natural variantiVAR_072150213A → T in NPHS2. 1 Publication1
Natural variantiVAR_072151218V → G in NPHS2. 1 Publication1
Natural variantiVAR_071229221T → I in NPHS2. 1 Publication1
Natural variantiVAR_072152228H → D in NPHS2. 1 Publication1
Natural variantiVAR_072153229R → L in NPHS2. 1 Publication1
Natural variantiVAR_071230229R → Q in NPHS2; associated with susceptibility to NPHS2; pathogenic only when combined with other mutations on the other allele. 5 PublicationsCorresponds to variant rs61747728dbSNPEnsembl.1
Natural variantiVAR_071231236 – 238Missing in NPHS2. 1 Publication3
Natural variantiVAR_071233238R → S in NPHS2. 2 PublicationsCorresponds to variant rs748812981dbSNPEnsembl.1
Natural variantiVAR_071235260V → E in NPHS2. 3 PublicationsCorresponds to variant rs775006954dbSNPEnsembl.1
Natural variantiVAR_072154267D → N in NPHS2. 1 Publication1
Natural variantiVAR_072155268V → L in NPHS2. 1 Publication1
Natural variantiVAR_072156276H → L in NPHS2. 1 Publication1
Natural variantiVAR_071237281E → A in NPHS2. 1 Publication1
Natural variantiVAR_071238281E → K in NPHS2. 1 Publication1
Natural variantiVAR_075617284A → V in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant rs780761368dbSNPEnsembl.1
Natural variantiVAR_071239290V → M in NPHS2. 2 PublicationsCorresponds to variant rs200482683dbSNPEnsembl.1
Natural variantiVAR_010236291R → W in NPHS2. 1 PublicationCorresponds to variant rs74315348dbSNPEnsembl.1
Natural variantiVAR_071240296E → K in NPHS2. 1 Publication1
Natural variantiVAR_072157301Missing in NPHS2. 1 Publication1
Natural variantiVAR_071241309A → V in NPHS2. 1 Publication1
Natural variantiVAR_075618310E → K in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071242315T → I in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072158322R → Q in NPHS2. 1 PublicationCorresponds to variant rs776859868dbSNPEnsembl.1
Natural variantiVAR_071243333E → G in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072159341P → S in NPHS2. 1 Publication1
Natural variantiVAR_072160370V → G in NPHS2. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7827.
MalaCardsiNPHS2.
MIMi600995. phenotype.
OpenTargetsiENSG00000116218.
Orphaneti93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
93216. Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes.
93218. Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
93221. Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes.
PharmGKBiPA31710.

Polymorphism and mutation databases

BioMutaiNPHS2.
DMDMi12230467.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000940351 – 383PodocinAdd BLAST383

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi101S-palmitoyl cysteineBy similarity1

Post-translational modificationi

Isoform 2 is glycosylated.

Keywords - PTMi

Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ9NP85.
PeptideAtlasiQ9NP85.
PRIDEiQ9NP85.

PTM databases

iPTMnetiQ9NP85.
PhosphoSitePlusiQ9NP85.

Expressioni

Tissue specificityi

Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.

Gene expression databases

BgeeiENSG00000116218.
CleanExiHS_NPHS2.
GenevisibleiQ9NP85. HS.

Organism-specific databases

HPAiCAB037267.
HPA049486.

Interactioni

Subunit structurei

Interacts with nephrin/NPHS1 and KIRREL. Interacts directly with CD2AP. Interacts with DDN (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
IQGAP1P469404EBI-6897706,EBI-297509

Protein-protein interaction databases

BioGridi113590. 5 interactors.
IntActiQ9NP85. 1 interactor.
STRINGi9606.ENSP00000356587.

Structurei

3D structure databases

ProteinModelPortaliQ9NP85.
SMRiQ9NP85.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the band 7/mec-2 family.Curated

Phylogenomic databases

eggNOGiKOG2621. Eukaryota.
COG0330. LUCA.
GeneTreeiENSGT00550000074454.
HOGENOMiHOG000217040.
HOVERGENiHBG004815.
InParanoidiQ9NP85.
KOiK18268.
OMAiWFCIKVV.
OrthoDBiEOG091G0G9K.
PhylomeDBiQ9NP85.
TreeFamiTF105750.

Family and domain databases

InterProiIPR001107. Band_7.
IPR018080. Band_7/stomatin-like_CS.
IPR028509. Podocin.
IPR001972. Stomatin_fam.
[Graphical view]
PANTHERiPTHR10264. PTHR10264. 1 hit.
PTHR10264:SF23. PTHR10264:SF23. 1 hit.
PfamiPF01145. Band_7. 1 hit.
[Graphical view]
PRINTSiPR00721. STOMATIN.
SMARTiSM00244. PHB. 1 hit.
[Graphical view]
SUPFAMiSSF117892. SSF117892. 1 hit.
PROSITEiPS01270. BAND_7. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NP85-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MERRARSSSR ESRGRGGRTP HKENKRAKAE RSGGGRGRQE AGPEPSGSGR
60 70 80 90 100
AGTPGEPRAP AATVVDVDEV RGSGEEGTEV VALLESERPE EGTKSSGLGA
110 120 130 140 150
CEWLLVLISL LFIIMTFPFS IWFCVKVVQE YERVIIFRLG HLLPGRAKGP
160 170 180 190 200
GLFFFLPCLD TYHKVDLRLQ TLEIPFHEIV TKDMFIMEID AICYYRMENA
210 220 230 240 250
SLLLSSLAHV SKAVQFLVQT TMKRLLAHRS LTEILLERKS IAQDAKVALD
260 270 280 290 300
SVTCIWGIKV ERIEIKDVRL PAGLQHSLAV EAEAQRQAKV RMIAAEAEKA
310 320 330 340 350
ASESLRMAAE ILSGTPAAVQ LRYLHTLQSL STEKPSTVVL PLPFDLLNCL
360 370 380
SSPSNRTQGS LPFPSPSKPV EPLNPKKKDS PML
Length:383
Mass (Da):42,201
Last modified:October 1, 2000 - v1
Checksum:iBBB57783C840F752
GO
Isoform 2 (identifier: Q9NP85-2) [UniParc]FASTAAdd to basket
Also known as: Pod-short

The sequence of this isoform differs from the canonical sequence as follows:
     179-246: Missing.

Note: N-glycosylated at Asn-287.
Show »
Length:315
Mass (Da):34,421
Checksum:i3DEBA37C01C87D84
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0721343R → G in NPHS2. 1 Publication1
Natural variantiVAR_07213518R → T in NPHS2. 1 Publication1
Natural variantiVAR_01023120P → L.2 PublicationsCorresponds to variant rs74315344dbSNPEnsembl.1
Natural variantiVAR_07213626R → M in NPHS2. 1 Publication1
Natural variantiVAR_07213728K → M in NPHS2. 1 Publication1
Natural variantiVAR_07121229A → T in NPHS2. 1 PublicationCorresponds to variant rs561887984dbSNPEnsembl.1
Natural variantiVAR_07213830E → K in NPHS2. 1 Publication1
Natural variantiVAR_07213930E → Q in NPHS2. 1 Publication1
Natural variantiVAR_07121334G → E.1 Publication1
Natural variantiVAR_07214039Q → L in NPHS2. 1 Publication1
Natural variantiVAR_07121444E → A.1 Publication1
Natural variantiVAR_07121561A → V.2 PublicationsCorresponds to variant rs201050491dbSNPEnsembl.1
Natural variantiVAR_07214189P → T in NPHS2. 1 Publication1
Natural variantiVAR_01023292G → C in NPHS2. 1 PublicationCorresponds to variant rs74315345dbSNPEnsembl.1
Natural variantiVAR_07121697G → S in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant rs200913299dbSNPEnsembl.1
Natural variantiVAR_071217107L → P in NPHS2. 1 Publication1
Natural variantiVAR_072142115M → T in NPHS2. 1 Publication1
Natural variantiVAR_071218116T → P in NPHS2. 1 Publication1
Natural variantiVAR_071219118P → L in NPHS2. 2 Publications1
Natural variantiVAR_072143122W → L in NPHS2. 1 PublicationCorresponds to variant rs750332447dbSNPEnsembl.1
Natural variantiVAR_071220122W → S in NPHS2. 1 PublicationCorresponds to variant rs750332447dbSNPEnsembl.1
Natural variantiVAR_072144124C → W in NPHS2. 1 Publication1
Natural variantiVAR_072145126K → N in NPHS2. 1 Publication1
Natural variantiVAR_010233138R → Q in NPHS2. 2 PublicationsCorresponds to variant rs74315342dbSNPEnsembl.1
Natural variantiVAR_072146139L → R in NPHS2. 1 Publication1
Natural variantiVAR_072147142L → P in NPHS2. 1 PublicationCorresponds to variant rs12240233dbSNPEnsembl.1
Natural variantiVAR_010234160D → G in NPHS2. 2 PublicationsCorresponds to variant rs74315346dbSNPEnsembl.1
Natural variantiVAR_071221168R → C in NPHS2. 2 PublicationsCorresponds to variant rs786204583dbSNPEnsembl.1
Natural variantiVAR_071222168R → H in NPHS2. 1 PublicationCorresponds to variant rs530318579dbSNPEnsembl.1
Natural variantiVAR_071223168R → S in NPHS2. 1 Publication1
Natural variantiVAR_071224172L → V in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071225175P → V in NPHS2; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_010235180V → M in NPHS2. 2 PublicationsCorresponds to variant rs74315347dbSNPEnsembl.1
Natural variantiVAR_071226183D → Y in NPHS2. 1 Publication1
Natural variantiVAR_071227187M → I in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072148192I → V in NPHS2. 1 Publication1
Natural variantiVAR_071228208A → T in NPHS2. 1 PublicationCorresponds to variant rs200587413dbSNPEnsembl.1
Natural variantiVAR_072149211S → A in NPHS2. 1 Publication1
Natural variantiVAR_072150213A → T in NPHS2. 1 Publication1
Natural variantiVAR_072151218V → G in NPHS2. 1 Publication1
Natural variantiVAR_071229221T → I in NPHS2. 1 Publication1
Natural variantiVAR_072152228H → D in NPHS2. 1 Publication1
Natural variantiVAR_072153229R → L in NPHS2. 1 Publication1
Natural variantiVAR_071230229R → Q in NPHS2; associated with susceptibility to NPHS2; pathogenic only when combined with other mutations on the other allele. 5 PublicationsCorresponds to variant rs61747728dbSNPEnsembl.1
Natural variantiVAR_071231236 – 238Missing in NPHS2. 1 Publication3
Natural variantiVAR_071232237E → Q.2 PublicationsCorresponds to variant rs146906190dbSNPEnsembl.1
Natural variantiVAR_071233238R → S in NPHS2. 2 PublicationsCorresponds to variant rs748812981dbSNPEnsembl.1
Natural variantiVAR_071234242A → V.1 PublicationCorresponds to variant rs61747727dbSNPEnsembl.1
Natural variantiVAR_071235260V → E in NPHS2. 3 PublicationsCorresponds to variant rs775006954dbSNPEnsembl.1
Natural variantiVAR_071236264E → Q.2 PublicationsCorresponds to variant rs369697947dbSNPEnsembl.1
Natural variantiVAR_072154267D → N in NPHS2. 1 Publication1
Natural variantiVAR_072155268V → L in NPHS2. 1 Publication1
Natural variantiVAR_072156276H → L in NPHS2. 1 Publication1
Natural variantiVAR_071237281E → A in NPHS2. 1 Publication1
Natural variantiVAR_071238281E → K in NPHS2. 1 Publication1
Natural variantiVAR_075617284A → V in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant rs780761368dbSNPEnsembl.1
Natural variantiVAR_071239290V → M in NPHS2. 2 PublicationsCorresponds to variant rs200482683dbSNPEnsembl.1
Natural variantiVAR_010236291R → W in NPHS2. 1 PublicationCorresponds to variant rs74315348dbSNPEnsembl.1
Natural variantiVAR_071240296E → K in NPHS2. 1 Publication1
Natural variantiVAR_072157301Missing in NPHS2. 1 Publication1
Natural variantiVAR_071241309A → V in NPHS2. 1 Publication1
Natural variantiVAR_075618310E → K in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071242315T → I in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072158322R → Q in NPHS2. 1 PublicationCorresponds to variant rs776859868dbSNPEnsembl.1
Natural variantiVAR_071243333E → G in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_072159341P → S in NPHS2. 1 Publication1
Natural variantiVAR_072160370V → G in NPHS2. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000499179 – 246Missing in isoform 2. 1 PublicationAdd BLAST68

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ279246
, AJ279247, AJ279248, AJ279249, AJ279250, AJ279251, AJ279252, AJ279253 Genomic DNA. Translation: CAB83272.1.
AJ279254 mRNA. Translation: CAB83216.1.
AL160286 Genomic DNA. Translation: CAI15397.1.
AL160286 Genomic DNA. Translation: CAI15398.1.
CH471067 Genomic DNA. Translation: EAW91049.1.
CH471067 Genomic DNA. Translation: EAW91050.1.
BC029141 mRNA. Translation: AAH29141.1.
CCDSiCCDS1331.1. [Q9NP85-1]
CCDS72988.1. [Q9NP85-2]
RefSeqiNP_001284504.1. NM_001297575.1. [Q9NP85-2]
NP_055440.1. NM_014625.3. [Q9NP85-1]
UniGeneiHs.412710.
Hs.658505.

Genome annotation databases

EnsembliENST00000367615; ENSP00000356587; ENSG00000116218. [Q9NP85-1]
ENST00000367616; ENSP00000356588; ENSG00000116218. [Q9NP85-2]
GeneIDi7827.
KEGGihsa:7827.
UCSCiuc001gmq.5. human. [Q9NP85-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ279246
, AJ279247, AJ279248, AJ279249, AJ279250, AJ279251, AJ279252, AJ279253 Genomic DNA. Translation: CAB83272.1.
AJ279254 mRNA. Translation: CAB83216.1.
AL160286 Genomic DNA. Translation: CAI15397.1.
AL160286 Genomic DNA. Translation: CAI15398.1.
CH471067 Genomic DNA. Translation: EAW91049.1.
CH471067 Genomic DNA. Translation: EAW91050.1.
BC029141 mRNA. Translation: AAH29141.1.
CCDSiCCDS1331.1. [Q9NP85-1]
CCDS72988.1. [Q9NP85-2]
RefSeqiNP_001284504.1. NM_001297575.1. [Q9NP85-2]
NP_055440.1. NM_014625.3. [Q9NP85-1]
UniGeneiHs.412710.
Hs.658505.

3D structure databases

ProteinModelPortaliQ9NP85.
SMRiQ9NP85.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113590. 5 interactors.
IntActiQ9NP85. 1 interactor.
STRINGi9606.ENSP00000356587.

Protein family/group databases

TCDBi8.A.21.1.2. the stomatin/podocin/band 7/nephrosis.2/spfh (stomatin) family.

PTM databases

iPTMnetiQ9NP85.
PhosphoSitePlusiQ9NP85.

Polymorphism and mutation databases

BioMutaiNPHS2.
DMDMi12230467.

Proteomic databases

PaxDbiQ9NP85.
PeptideAtlasiQ9NP85.
PRIDEiQ9NP85.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367615; ENSP00000356587; ENSG00000116218. [Q9NP85-1]
ENST00000367616; ENSP00000356588; ENSG00000116218. [Q9NP85-2]
GeneIDi7827.
KEGGihsa:7827.
UCSCiuc001gmq.5. human. [Q9NP85-1]

Organism-specific databases

CTDi7827.
DisGeNETi7827.
GeneCardsiNPHS2.
HGNCiHGNC:13394. NPHS2.
HPAiCAB037267.
HPA049486.
MalaCardsiNPHS2.
MIMi600995. phenotype.
604766. gene.
neXtProtiNX_Q9NP85.
OpenTargetsiENSG00000116218.
Orphaneti93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
93216. Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes.
93218. Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
93221. Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes.
PharmGKBiPA31710.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2621. Eukaryota.
COG0330. LUCA.
GeneTreeiENSGT00550000074454.
HOGENOMiHOG000217040.
HOVERGENiHBG004815.
InParanoidiQ9NP85.
KOiK18268.
OMAiWFCIKVV.
OrthoDBiEOG091G0G9K.
PhylomeDBiQ9NP85.
TreeFamiTF105750.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000116218-MONOMER.
ReactomeiR-HSA-373753. Nephrin interactions.

Miscellaneous databases

GeneWikiiNPHS2.
GenomeRNAii7827.
PROiQ9NP85.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116218.
CleanExiHS_NPHS2.
GenevisibleiQ9NP85. HS.

Family and domain databases

InterProiIPR001107. Band_7.
IPR018080. Band_7/stomatin-like_CS.
IPR028509. Podocin.
IPR001972. Stomatin_fam.
[Graphical view]
PANTHERiPTHR10264. PTHR10264. 1 hit.
PTHR10264:SF23. PTHR10264:SF23. 1 hit.
PfamiPF01145. Band_7. 1 hit.
[Graphical view]
PRINTSiPR00721. STOMATIN.
SMARTiSM00244. PHB. 1 hit.
[Graphical view]
SUPFAMiSSF117892. SSF117892. 1 hit.
PROSITEiPS01270. BAND_7. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPODO_HUMAN
AccessioniPrimary (citable) accession number: Q9NP85
Secondary accession number(s): B1AM32, B1AM33, Q8N6Q5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: November 2, 2016
This is version 134 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

Variants Leu-20 and Gln-264 have been originally reported as disease-causing mutations in NPHS2 (PubMed:10742096, PubMed:20947785). In contrast, Gln-237 has been described as a variant of unknown pathological significance (PubMed:15253708). These 3 variants have been reclassified as neutral polymorphisms (PubMed:24227627).Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.