Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Podocin

Gene

NPHS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

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

GO - Biological processi

  • actin cytoskeleton reorganization Source: UniProtKB
  • excretion Source: ProtInc
  • metanephric glomerular visceral epithelial cell development Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-373753 Nephrin family 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

EuPathDBiHostDB:ENSG00000116218.12
HGNCiHGNC:13394 NPHS2
MIMi604766 gene
neXtProtiNX_Q9NP85

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 2 (NPHS2)14 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 PublicationCorresponds to variant dbSNP:rs1340195940Ensembl.1
Natural variantiVAR_07121229A → T in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs561887984EnsemblClinVar.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 dbSNP:rs74315345EnsemblClinVar.1
Natural variantiVAR_07121697G → S in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200913299Ensembl.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 PublicationsCorresponds to variant dbSNP:rs869025495EnsemblClinVar.1
Natural variantiVAR_072143122W → L in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs750332447Ensembl.1
Natural variantiVAR_071220122W → S in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs750332447Ensembl.1
Natural variantiVAR_072144124C → W in NPHS2. 1 Publication1
Natural variantiVAR_072145126K → N in NPHS2. 1 Publication1
Natural variantiVAR_079808138 – 383Missing in NPHS2. 1 PublicationAdd BLAST246
Natural variantiVAR_010233138R → Q in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs74315342EnsemblClinVar.1
Natural variantiVAR_072146139L → R in NPHS2. 1 Publication1
Natural variantiVAR_072147142L → P in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs12240233Ensembl.1
Natural variantiVAR_010234160D → G in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs74315346EnsemblClinVar.1
Natural variantiVAR_071221168R → C in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs786204583EnsemblClinVar.1
Natural variantiVAR_071222168R → H in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs530318579EnsemblClinVar.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 dbSNP:rs74315347EnsemblClinVar.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 dbSNP:rs200587413EnsemblClinVar.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. 6 PublicationsCorresponds to variant dbSNP:rs61747728EnsemblClinVar.1
Natural variantiVAR_071231236 – 238Missing in NPHS2. 1 Publication3
Natural variantiVAR_071233238R → S in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs748812981EnsemblClinVar.1
Natural variantiVAR_071235260V → E in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs775006954EnsemblClinVar.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 dbSNP:rs780761368EnsemblClinVar.1
Natural variantiVAR_071239290V → M in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs200482683EnsemblClinVar.1
Natural variantiVAR_010236291R → W in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs74315348EnsemblClinVar.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_079810310E → V 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 dbSNP:rs776859868EnsemblClinVar.1
Natural variantiVAR_079811328Q → R in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071243333E → G in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs866921812Ensembl.1
Natural variantiVAR_072159341P → S in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs1214047676Ensembl.1
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
Isoform 2 (identifier: Q9NP85-2)
Glycosylationi287N-linked (GlcNAc...) asparagine1 Publication1

Post-translational modificationi

Isoform 2 is glycosylated.

Keywords - PTMi

Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ9NP85
PeptideAtlasiQ9NP85
PRIDEiQ9NP85
ProteomicsDBi81929
81930 [Q9NP85-2]

PTM databases

iPTMnetiQ9NP85
PhosphoSitePlusiQ9NP85

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000116218 Expressed in 28 organ(s), highest expression level in renal glomerulus
CleanExiHS_NPHS2
GenevisibleiQ9NP85 HS

Organism-specific databases

HPAiCAB037267
HPA049486

Interactioni

Subunit structurei

Interacts with nephrin/NPHS1 and KIRREL1. 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
OMAiCYYRLEN
OrthoDBiEOG091G0G9K
PhylomeDBiQ9NP85
TreeFamiTF105750

Family and domain databases

InterProiView protein in InterPro
IPR001107 Band_7
IPR036013 Band_7/SPFH_dom_sf
IPR018080 Band_7/stomatin-like_CS
IPR028509 Podocin
IPR001972 Stomatin_fam
PANTHERiPTHR10264:SF23 PTHR10264:SF23, 1 hit
PfamiView protein in Pfam
PF01145 Band_7, 1 hit
PRINTSiPR00721 STOMATIN
SMARTiView protein in SMART
SM00244 PHB, 1 hit
SUPFAMiSSF117892 SSF117892, 1 hit
PROSITEiView protein in PROSITE
PS01270 BAND_7, 1 hit

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.

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 → L2 PublicationsCorresponds to variant dbSNP:rs74315344EnsemblClinVar.1
Natural variantiVAR_07213626R → M in NPHS2. 1 Publication1
Natural variantiVAR_07213728K → M in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs1340195940Ensembl.1
Natural variantiVAR_07121229A → T in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs561887984EnsemblClinVar.1
Natural variantiVAR_07213830E → K in NPHS2. 1 Publication1
Natural variantiVAR_07213930E → Q in NPHS2. 1 Publication1
Natural variantiVAR_07121334G → E1 Publication1
Natural variantiVAR_07214039Q → L in NPHS2. 1 Publication1
Natural variantiVAR_07121444E → A1 Publication1
Natural variantiVAR_07121561A → V2 PublicationsCorresponds to variant dbSNP:rs201050491EnsemblClinVar.1
Natural variantiVAR_07214189P → T in NPHS2. 1 Publication1
Natural variantiVAR_01023292G → C in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs74315345EnsemblClinVar.1
Natural variantiVAR_07121697G → S in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200913299Ensembl.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 PublicationsCorresponds to variant dbSNP:rs869025495EnsemblClinVar.1
Natural variantiVAR_072143122W → L in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs750332447Ensembl.1
Natural variantiVAR_071220122W → S in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs750332447Ensembl.1
Natural variantiVAR_072144124C → W in NPHS2. 1 Publication1
Natural variantiVAR_072145126K → N in NPHS2. 1 Publication1
Natural variantiVAR_079808138 – 383Missing in NPHS2. 1 PublicationAdd BLAST246
Natural variantiVAR_010233138R → Q in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs74315342EnsemblClinVar.1
Natural variantiVAR_072146139L → R in NPHS2. 1 Publication1
Natural variantiVAR_072147142L → P in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs12240233Ensembl.1
Natural variantiVAR_010234160D → G in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs74315346EnsemblClinVar.1
Natural variantiVAR_071221168R → C in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs786204583EnsemblClinVar.1
Natural variantiVAR_071222168R → H in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs530318579EnsemblClinVar.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 dbSNP:rs74315347EnsemblClinVar.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 dbSNP:rs200587413EnsemblClinVar.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. 6 PublicationsCorresponds to variant dbSNP:rs61747728EnsemblClinVar.1
Natural variantiVAR_071231236 – 238Missing in NPHS2. 1 Publication3
Natural variantiVAR_071232237E → Q2 PublicationsCorresponds to variant dbSNP:rs146906190Ensembl.1
Natural variantiVAR_071233238R → S in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs748812981EnsemblClinVar.1
Natural variantiVAR_071234242A → V1 PublicationCorresponds to variant dbSNP:rs61747727EnsemblClinVar.1
Natural variantiVAR_071235260V → E in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs775006954EnsemblClinVar.1
Natural variantiVAR_071236264E → Q2 PublicationsCorresponds to variant dbSNP:rs369697947EnsemblClinVar.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 dbSNP:rs780761368EnsemblClinVar.1
Natural variantiVAR_071239290V → M in NPHS2. 3 PublicationsCorresponds to variant dbSNP:rs200482683EnsemblClinVar.1
Natural variantiVAR_010236291R → W in NPHS2. 2 PublicationsCorresponds to variant dbSNP:rs74315348EnsemblClinVar.1
Natural variantiVAR_071240296E → K in NPHS2. 1 Publication1
Natural variantiVAR_079809297A → V1 PublicationCorresponds to variant dbSNP:rs199506378EnsemblClinVar.1
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_079810310E → V 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 dbSNP:rs776859868EnsemblClinVar.1
Natural variantiVAR_079811328Q → R in NPHS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_071243333E → G in NPHS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs866921812Ensembl.1
Natural variantiVAR_072159341P → S in NPHS2. 1 PublicationCorresponds to variant dbSNP:rs1214047676Ensembl.1
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 No translation available.
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

Similar proteinsi

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 No translation available.
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
ProteomicsDBi81929
81930 [Q9NP85-2]

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
EuPathDBiHostDB:ENSG00000116218.12
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
OMAiCYYRLEN
OrthoDBiEOG091G0G9K
PhylomeDBiQ9NP85
TreeFamiTF105750

Enzyme and pathway databases

ReactomeiR-HSA-373753 Nephrin family interactions

Miscellaneous databases

GeneWikiiNPHS2
GenomeRNAii7827
PROiPR:Q9NP85
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116218 Expressed in 28 organ(s), highest expression level in renal glomerulus
CleanExiHS_NPHS2
GenevisibleiQ9NP85 HS

Family and domain databases

InterProiView protein in InterPro
IPR001107 Band_7
IPR036013 Band_7/SPFH_dom_sf
IPR018080 Band_7/stomatin-like_CS
IPR028509 Podocin
IPR001972 Stomatin_fam
PANTHERiPTHR10264:SF23 PTHR10264:SF23, 1 hit
PfamiView protein in Pfam
PF01145 Band_7, 1 hit
PRINTSiPR00721 STOMATIN
SMARTiView protein in SMART
SM00244 PHB, 1 hit
SUPFAMiSSF117892 SSF117892, 1 hit
PROSITEiView protein in PROSITE
PS01270 BAND_7, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPODO_HUMAN
AccessioniPrimary (citable) accession number: Q9NP85
Secondary accession number(s): B1AM32, B1AM33, Q8N6Q5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 149 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again