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Q9NP85

- PODO_HUMAN

UniProt

Q9NP85 - PODO_HUMAN

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Protein

Podocin

Gene

NPHS2

Organism
Homo sapiens (Human)
Status
Reviewed - 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

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

Enzyme and pathway databases

ReactomeiREACT_23832. Nephrin interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Podocin
Gene namesi
Name:NPHS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:13394. NPHS2.

Subcellular locationi

Isoform 2 : Endoplasmic reticulum 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 102102CytoplasmicSequence AnalysisAdd
BLAST
Intramembranei103 – 12321Sequence AnalysisAdd
BLAST
Topological domaini124 – 383260CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell-cell junction Source: UniProtKB
  2. endoplasmic reticulum Source: UniProtKB-KW
  3. extracellular vesicular exosome Source: UniProtKB
  4. integral component of plasma membrane Source: ProtInc
  5. intrinsic component of the cytoplasmic side of the plasma membrane Source: UniProtKB
  6. membrane raft Source: UniProtKB
  7. plasma membrane Source: Reactome
  8. protein complex Source: UniProtKB
  9. slit diaphragm Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 2 (NPHS2) [MIM:600995]: A 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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti29 – 291A → T in NPHS2. 1 Publication
VAR_071212
Natural varianti92 – 921G → C in NPHS2. 1 Publication
VAR_010232
Natural varianti97 – 971G → S in NPHS2; unknown pathological significance. 1 Publication
VAR_071216
Natural varianti107 – 1071L → P in NPHS2. 1 Publication
VAR_071217
Natural varianti116 – 1161T → P in NPHS2. 1 Publication
VAR_071218
Natural varianti118 – 1181P → L in NPHS2. 1 Publication
VAR_071219
Natural varianti122 – 1221W → S in NPHS2. 1 Publication
VAR_071220
Natural varianti138 – 1381R → Q in NPHS2. 2 Publications
VAR_010233
Natural varianti160 – 1601D → G in NPHS2. 1 Publication
VAR_010234
Natural varianti168 – 1681R → C in NPHS2. 1 Publication
VAR_071221
Natural varianti168 – 1681R → H in NPHS2. 1 Publication
VAR_071222
Natural varianti168 – 1681R → S in NPHS2. 1 Publication
VAR_071223
Natural varianti172 – 1721L → V in NPHS2; unknown pathological significance. 1 Publication
VAR_071224
Natural varianti175 – 1751P → V in NPHS2; requires 2 nucleotide substitutions. 1 Publication
VAR_071225
Natural varianti180 – 1801V → M in NPHS2. 1 Publication
VAR_010235
Natural varianti183 – 1831D → Y in NPHS2. 1 Publication
VAR_071226
Natural varianti187 – 1871M → I in NPHS2; unknown pathological significance. 1 Publication
VAR_071227
Natural varianti208 – 2081A → T in NPHS2. 1 Publication
VAR_071228
Natural varianti221 – 2211T → I in NPHS2. 1 Publication
VAR_071229
Natural varianti229 – 2291R → Q Appears to enhance susceptibility to NPHS2 in association with a second mutant allele; disease-associated 3' mutations exert a dominant-negative effect on this mutation but behave as recessive alleles when associated with the wild-type protein. 4 Publications
VAR_071230
Natural varianti236 – 2383Missing in NPHS2. 1 Publication
VAR_071231
Natural varianti238 – 2381R → S in NPHS2. 1 Publication
VAR_071233
Natural varianti260 – 2601V → E in NPHS2. 1 Publication
VAR_071235
Natural varianti281 – 2811E → A in NPHS2. 1 Publication
VAR_071237
Natural varianti281 – 2811E → K in NPHS2. 1 Publication
VAR_071238
Natural varianti290 – 2901V → M in NPHS2. 1 Publication
VAR_071239
Natural varianti291 – 2911R → W in NPHS2. 1 Publication
Corresponds to variant rs74315348 [ dbSNP | Ensembl ].
VAR_010236
Natural varianti296 – 2961E → K in NPHS2. 1 Publication
VAR_071240
Natural varianti309 – 3091A → V in NPHS2. 1 Publication
VAR_071241
Natural varianti315 – 3151T → I in NPHS2; unknown pathological significance. 1 Publication
VAR_071242
Natural varianti333 – 3331E → G in NPHS2; unknown pathological significance. 1 Publication
VAR_071243

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi600995. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 383383PodocinPRO_0000094035Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi101 – 1011S-palmitoyl cysteineBy similarity

Post-translational modificationi

Isoform 2 is glycosylated.

Keywords - PTMi

Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiQ9NP85.
PRIDEiQ9NP85.

PTM databases

PhosphoSiteiQ9NP85.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9NP85.
CleanExiHS_NPHS2.
GenevestigatoriQ9NP85.

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. 6 interactions.
IntActiQ9NP85. 1 interaction.
STRINGi9606.ENSP00000356587.

Structurei

3D structure databases

ProteinModelPortaliQ9NP85.
SMRiQ9NP85. Positions 164-326.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiCOG0330.
GeneTreeiENSGT00550000074454.
HOGENOMiHOG000217040.
HOVERGENiHBG004815.
InParanoidiQ9NP85.
KOiK18268.
OMAiFIIMTFP.
OrthoDBiEOG78D7KJ.
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]
PROSITEiPS01270. BAND_7. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201P → L.1 Publication
Corresponds to variant rs74315344 [ dbSNP | Ensembl ].
VAR_010231
Natural varianti29 – 291A → T in NPHS2. 1 Publication
VAR_071212
Natural varianti34 – 341G → E.1 Publication
VAR_071213
Natural varianti44 – 441E → A.1 Publication
VAR_071214
Natural varianti61 – 611A → V.2 Publications
VAR_071215
Natural varianti92 – 921G → C in NPHS2. 1 Publication
VAR_010232
Natural varianti97 – 971G → S in NPHS2; unknown pathological significance. 1 Publication
VAR_071216
Natural varianti107 – 1071L → P in NPHS2. 1 Publication
VAR_071217
Natural varianti116 – 1161T → P in NPHS2. 1 Publication
VAR_071218
Natural varianti118 – 1181P → L in NPHS2. 1 Publication
VAR_071219
Natural varianti122 – 1221W → S in NPHS2. 1 Publication
VAR_071220
Natural varianti138 – 1381R → Q in NPHS2. 2 Publications
VAR_010233
Natural varianti160 – 1601D → G in NPHS2. 1 Publication
VAR_010234
Natural varianti168 – 1681R → C in NPHS2. 1 Publication
VAR_071221
Natural varianti168 – 1681R → H in NPHS2. 1 Publication
VAR_071222
Natural varianti168 – 1681R → S in NPHS2. 1 Publication
VAR_071223
Natural varianti172 – 1721L → V in NPHS2; unknown pathological significance. 1 Publication
VAR_071224
Natural varianti175 – 1751P → V in NPHS2; requires 2 nucleotide substitutions. 1 Publication
VAR_071225
Natural varianti180 – 1801V → M in NPHS2. 1 Publication
VAR_010235
Natural varianti183 – 1831D → Y in NPHS2. 1 Publication
VAR_071226
Natural varianti187 – 1871M → I in NPHS2; unknown pathological significance. 1 Publication
VAR_071227
Natural varianti208 – 2081A → T in NPHS2. 1 Publication
VAR_071228
Natural varianti221 – 2211T → I in NPHS2. 1 Publication
VAR_071229
Natural varianti229 – 2291R → Q Appears to enhance susceptibility to NPHS2 in association with a second mutant allele; disease-associated 3' mutations exert a dominant-negative effect on this mutation but behave as recessive alleles when associated with the wild-type protein. 4 Publications
VAR_071230
Natural varianti236 – 2383Missing in NPHS2. 1 Publication
VAR_071231
Natural varianti237 – 2371E → Q.1 Publication
VAR_071232
Natural varianti238 – 2381R → S in NPHS2. 1 Publication
VAR_071233
Natural varianti242 – 2421A → V.1 Publication
VAR_071234
Natural varianti260 – 2601V → E in NPHS2. 1 Publication
VAR_071235
Natural varianti264 – 2641E → Q.1 Publication
VAR_071236
Natural varianti281 – 2811E → A in NPHS2. 1 Publication
VAR_071237
Natural varianti281 – 2811E → K in NPHS2. 1 Publication
VAR_071238
Natural varianti290 – 2901V → M in NPHS2. 1 Publication
VAR_071239
Natural varianti291 – 2911R → W in NPHS2. 1 Publication
Corresponds to variant rs74315348 [ dbSNP | Ensembl ].
VAR_010236
Natural varianti296 – 2961E → K in NPHS2. 1 Publication
VAR_071240
Natural varianti309 – 3091A → V in NPHS2. 1 Publication
VAR_071241
Natural varianti315 – 3151T → I in NPHS2; unknown pathological significance. 1 Publication
VAR_071242
Natural varianti333 – 3331E → G in NPHS2; unknown pathological significance. 1 Publication
VAR_071243

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei179 – 24668Missing in isoform 2. 1 PublicationVSP_000499Add
BLAST

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.4. human. [Q9NP85-1]
uc009wxi.3. human. [Q9NP85-2]

Polymorphism databases

DMDMi12230467.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Nephrosis 2, idiopathic, steroid-resistant CC (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 .
CCDSi CCDS1331.1. [Q9NP85-1 ]
CCDS72988.1. [Q9NP85-2 ]
RefSeqi NP_001284504.1. NM_001297575.1. [Q9NP85-2 ]
NP_055440.1. NM_014625.3. [Q9NP85-1 ]
UniGenei Hs.412710.
Hs.658505.

3D structure databases

ProteinModelPortali Q9NP85.
SMRi Q9NP85. Positions 164-326.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113590. 6 interactions.
IntActi Q9NP85. 1 interaction.
STRINGi 9606.ENSP00000356587.

PTM databases

PhosphoSitei Q9NP85.

Polymorphism databases

DMDMi 12230467.

Proteomic databases

PaxDbi Q9NP85.
PRIDEi Q9NP85.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367615 ; ENSP00000356587 ; ENSG00000116218 . [Q9NP85-1 ]
ENST00000367616 ; ENSP00000356588 ; ENSG00000116218 . [Q9NP85-2 ]
GeneIDi 7827.
KEGGi hsa:7827.
UCSCi uc001gmq.4. human. [Q9NP85-1 ]
uc009wxi.3. human. [Q9NP85-2 ]

Organism-specific databases

CTDi 7827.
GeneCardsi GC01M179519.
HGNCi HGNC:13394. NPHS2.
HPAi CAB037267.
HPA049486.
MIMi 600995. phenotype.
604766. gene.
neXtProti NX_Q9NP85.
Orphaneti 93213. 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.
PharmGKBi PA31710.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0330.
GeneTreei ENSGT00550000074454.
HOGENOMi HOG000217040.
HOVERGENi HBG004815.
InParanoidi Q9NP85.
KOi K18268.
OMAi FIIMTFP.
OrthoDBi EOG78D7KJ.
PhylomeDBi Q9NP85.
TreeFami TF105750.

Enzyme and pathway databases

Reactomei REACT_23832. Nephrin interactions.

Miscellaneous databases

GeneWikii NPHS2.
GenomeRNAii 7827.
NextBioi 30224.
PROi Q9NP85.
SOURCEi Search...

Gene expression databases

Bgeei Q9NP85.
CleanExi HS_NPHS2.
Genevestigatori Q9NP85.

Family and domain databases

InterProi IPR001107. Band_7.
IPR018080. Band_7/stomatin-like_CS.
IPR028509. Podocin.
IPR001972. Stomatin_fam.
[Graphical view ]
PANTHERi PTHR10264. PTHR10264. 1 hit.
PTHR10264:SF23. PTHR10264:SF23. 1 hit.
Pfami PF01145. Band_7. 1 hit.
[Graphical view ]
PRINTSi PR00721. STOMATIN.
SMARTi SM00244. PHB. 1 hit.
[Graphical view ]
PROSITEi PS01270. BAND_7. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome."
    Boute N., Gribouval O., Roselli S., Benessy F., Lee H., Fuchshuber A., Dahan K., Gubler M.-C., Niaudet P., Antignac C.
    Nat. Genet. 24:349-354(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS NPHS2 RP CYS-92; GLN-138; GLY-160; MET-180 AND TRP-291, VARIANT LEU-20.
    Tissue: Kidney.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Colon and Kidney.
  5. "Interaction with podocin facilitates nephrin signaling."
    Huber T.B., Kottgen M., Schilling B., Walz G., Benzing T.
    J. Biol. Chem. 276:41543-41546(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NPHS1.
  6. "Characterization of a short isoform of the kidney protein podocin in human kidney."
    Volker L.A., Schurek E.M., Rinschen M.M., Tax J., Schutte B.A., Lamkemeyer T., Ungrue D., Schermer B., Benzing T., Hohne M.
    BMC Nephrol. 14:102-102(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORM 2), SUBCELLULAR LOCATION (ISOFORM 2), GLYCOSYLATION (ISOFORM 2).
    Tissue: Kidney.
  7. "NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele."
    Tsukaguchi H., Sudhakar A., Le T.C., Nguyen T., Yao J., Schwimmer J.A., Schachter A.D., Poch E., Abreu P.F., Appel G.B., Pereira A.B., Kalluri R., Pollak M.R.
    J. Clin. Invest. 110:1659-1666(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLN-229, ASSOCIATION OF VARIANT GLN-229 WITH NPHS2.
  8. "NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children."
    Maruyama K., Iijima K., Ikeda M., Kitamura A., Tsukaguchi H., Yoshiya K., Hoshii S., Wada N., Uemura O., Satomura K., Honda M., Yoshikawa N.
    Pediatr. Nephrol. 18:412-416(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLU-34.
  9. "NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence."
    Weber S., Gribouval O., Esquivel E.L., Moriniere V., Tete M.J., Legendre C., Niaudet P., Antignac C.
    Kidney Int. 66:571-579(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPHS2 THR-29; LEU-118; CYS-168; HIS-168; SER-168; VAL-172; THR-208; 236-LEU--ARG-238 DEL; SER-238 AND GLU-260, VARIANTS VAL-61; GLN-237 AND VAL-242.
  10. "Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease."
    Dusel J.A., Burdon K.P., Hicks P.J., Hawkins G.A., Bowden D.W., Freedman B.I.
    Kidney Int. 68:256-262(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALA-44 AND VAL-61.
  11. Cited for: VARIANT GLN-229.
  12. "Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome."
    Santin S., Tazon-Vega B., Silva I., Cobo M.A., Gimenez I., Ruiz P., Garcia-Maset R., Ballarin J., Torra R., Ars E., Fraga G., Mendizabel S., Zamora I., Pena A., Espinosa L., Garcia C., Melgosa M., Navarro M.
    , Lopez-Hellin J., Chocron S., Madrid A., Vilalta R., Nieto J.L., Ventura C., Gimenez A., Cots J.V., Camacho J.A., Sanchez-Moreno A., de la Cerda F., Salido E., Ortiz A., Alexandra S., Caramelo C., Egido J., Bernis C., Luque de Pablos A., Morales San Jose M.D., Pintos G., Sala P., Raspall F., Vila A., Daza M., Vazquez M., Ecija L., Espinosa M., Poveda R., Mirapeix E., Vallejo G., Aparicio C., Rosell J., de Sotto D., Muley R., Montenegro J., Gonzalez D., Barajas de Frutos D., Trillo E., Gainza de los Rios F.J., Justa M.L., Hidalgo-Barquero E.
    Clin. J. Am. Soc. Nephrol. 6:344-354(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPHS2 PRO-116; ILE-187; ILE-221 AND ALA-281, VARIANT GLN-264.
  13. Cited for: VARIANTS NPHS2 GLN-138 AND MET-290.
  14. "NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis."
    Kerti A., Csohany R., Wagner L., Javorszky E., Maka E., Tory K.
    Pediatr. Nephrol. 28:2061-2064(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLN-229, POSSIBLE ROLE AS DISEASE MODIFIER IN NPHS2.
  15. Cited for: VARIANTS NPHS2 SER-97; PRO-107; SER-122; VAL-175; TYR-183; LYS-281; LYS-296; VAL-309; ILE-315 AND GLY-333, VARIANTS LEU-20; GLN-237 AND GLN-264.
  16. "Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome."
    Tory K., Menyhard D.K., Woerner S., Nevo F., Gribouval O., Kerti A., Straner P., Arrondel C., Cong E.H., Tulassay T., Mollet G., Perczel A., Antignac C.
    Nat. Genet. 46:299-304(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLN-229, ASSOCIATION OF VARIANT GLN-229 WITH NPHS2.

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: October 29, 2014
This is version 116 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

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

External Data

Dasty 3