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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

  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 Componenti: 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-SubCell
  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)10 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31R → G in NPHS2. 1 Publication
VAR_072134
Natural varianti18 – 181R → T in NPHS2. 1 Publication
VAR_072135
Natural varianti26 – 261R → M in NPHS2. 1 Publication
VAR_072136
Natural varianti28 – 281K → M in NPHS2. 1 Publication
VAR_072137
Natural varianti29 – 291A → T in NPHS2. 1 Publication
VAR_071212
Natural varianti30 – 301E → K in NPHS2. 1 Publication
VAR_072138
Natural varianti30 – 301E → Q in NPHS2. 1 Publication
VAR_072139
Natural varianti39 – 391Q → L in NPHS2. 1 Publication
VAR_072140
Natural varianti89 – 891P → T in NPHS2. 1 Publication
VAR_072141
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 varianti115 – 1151M → T in NPHS2. 1 Publication
VAR_072142
Natural varianti116 – 1161T → P in NPHS2. 1 Publication
VAR_071218
Natural varianti118 – 1181P → L in NPHS2. 2 Publications
VAR_071219
Natural varianti122 – 1221W → L in NPHS2. 1 Publication
VAR_072143
Natural varianti122 – 1221W → S in NPHS2. 1 Publication
VAR_071220
Natural varianti124 – 1241C → W in NPHS2. 1 Publication
VAR_072144
Natural varianti126 – 1261K → N in NPHS2. 1 Publication
VAR_072145
Natural varianti138 – 1381R → Q in NPHS2. 2 Publications
VAR_010233
Natural varianti139 – 1391L → R in NPHS2. 1 Publication
VAR_072146
Natural varianti142 – 1421L → P in NPHS2. 1 Publication
VAR_072147
Natural varianti160 – 1601D → G in NPHS2. 2 Publications
VAR_010234
Natural varianti168 – 1681R → C in NPHS2. 2 Publications
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. 2 Publications
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 varianti192 – 1921I → V in NPHS2. 1 Publication
VAR_072148
Natural varianti208 – 2081A → T in NPHS2. 1 Publication
VAR_071228
Natural varianti211 – 2111S → A in NPHS2. 1 Publication
VAR_072149
Natural varianti213 – 2131A → T in NPHS2. 1 Publication
VAR_072150
Natural varianti218 – 2181V → G in NPHS2. 1 Publication
VAR_072151
Natural varianti221 – 2211T → I in NPHS2. 1 Publication
VAR_071229
Natural varianti228 – 2281H → D in NPHS2. 1 Publication
VAR_072152
Natural varianti229 – 2291R → L in NPHS2. 1 Publication
VAR_072153
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. 2 Publications
VAR_071233
Natural varianti260 – 2601V → E in NPHS2. 2 Publications
VAR_071235
Natural varianti267 – 2671D → N in NPHS2. 1 Publication
VAR_072154
Natural varianti268 – 2681V → L in NPHS2. 1 Publication
VAR_072155
Natural varianti276 – 2761H → L in NPHS2. 1 Publication
VAR_072156
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. 2 Publications
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 varianti301 – 3011Missing in NPHS2. 1 Publication
VAR_072157
Natural varianti309 – 3091A → V in NPHS2. 1 Publication
VAR_071241
Natural varianti315 – 3151T → I in NPHS2; unknown pathological significance. 1 Publication
VAR_071242
Natural varianti322 – 3221R → Q in NPHS2. 1 Publication
VAR_072158
Natural varianti333 – 3331E → G in NPHS2; unknown pathological significance. 1 Publication
VAR_071243
Natural varianti341 – 3411P → S in NPHS2. 1 Publication
VAR_072159
Natural varianti370 – 3701V → G in NPHS2. 1 Publication
VAR_072160

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. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31R → G in NPHS2. 1 Publication
VAR_072134
Natural varianti18 – 181R → T in NPHS2. 1 Publication
VAR_072135
Natural varianti20 – 201P → L.2 Publications
Corresponds to variant rs74315344 [ dbSNP | Ensembl ].
VAR_010231
Natural varianti26 – 261R → M in NPHS2. 1 Publication
VAR_072136
Natural varianti28 – 281K → M in NPHS2. 1 Publication
VAR_072137
Natural varianti29 – 291A → T in NPHS2. 1 Publication
VAR_071212
Natural varianti30 – 301E → K in NPHS2. 1 Publication
VAR_072138
Natural varianti30 – 301E → Q in NPHS2. 1 Publication
VAR_072139
Natural varianti34 – 341G → E.1 Publication
VAR_071213
Natural varianti39 – 391Q → L in NPHS2. 1 Publication
VAR_072140
Natural varianti44 – 441E → A.1 Publication
VAR_071214
Natural varianti61 – 611A → V.2 Publications
VAR_071215
Natural varianti89 – 891P → T in NPHS2. 1 Publication
VAR_072141
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 varianti115 – 1151M → T in NPHS2. 1 Publication
VAR_072142
Natural varianti116 – 1161T → P in NPHS2. 1 Publication
VAR_071218
Natural varianti118 – 1181P → L in NPHS2. 2 Publications
VAR_071219
Natural varianti122 – 1221W → L in NPHS2. 1 Publication
VAR_072143
Natural varianti122 – 1221W → S in NPHS2. 1 Publication
VAR_071220
Natural varianti124 – 1241C → W in NPHS2. 1 Publication
VAR_072144
Natural varianti126 – 1261K → N in NPHS2. 1 Publication
VAR_072145
Natural varianti138 – 1381R → Q in NPHS2. 2 Publications
VAR_010233
Natural varianti139 – 1391L → R in NPHS2. 1 Publication
VAR_072146
Natural varianti142 – 1421L → P in NPHS2. 1 Publication
VAR_072147
Natural varianti160 – 1601D → G in NPHS2. 2 Publications
VAR_010234
Natural varianti168 – 1681R → C in NPHS2. 2 Publications
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. 2 Publications
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 varianti192 – 1921I → V in NPHS2. 1 Publication
VAR_072148
Natural varianti208 – 2081A → T in NPHS2. 1 Publication
VAR_071228
Natural varianti211 – 2111S → A in NPHS2. 1 Publication
VAR_072149
Natural varianti213 – 2131A → T in NPHS2. 1 Publication
VAR_072150
Natural varianti218 – 2181V → G in NPHS2. 1 Publication
VAR_072151
Natural varianti221 – 2211T → I in NPHS2. 1 Publication
VAR_071229
Natural varianti228 – 2281H → D in NPHS2. 1 Publication
VAR_072152
Natural varianti229 – 2291R → L in NPHS2. 1 Publication
VAR_072153
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.2 Publications
VAR_071232
Natural varianti238 – 2381R → S in NPHS2. 2 Publications
VAR_071233
Natural varianti242 – 2421A → V.1 Publication
VAR_071234
Natural varianti260 – 2601V → E in NPHS2. 2 Publications
VAR_071235
Natural varianti264 – 2641E → Q.2 Publications
VAR_071236
Natural varianti267 – 2671D → N in NPHS2. 1 Publication
VAR_072154
Natural varianti268 – 2681V → L in NPHS2. 1 Publication
VAR_072155
Natural varianti276 – 2761H → L in NPHS2. 1 Publication
VAR_072156
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. 2 Publications
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 varianti301 – 3011Missing in NPHS2. 1 Publication
VAR_072157
Natural varianti309 – 3091A → V in NPHS2. 1 Publication
VAR_071241
Natural varianti315 – 3151T → I in NPHS2; unknown pathological significance. 1 Publication
VAR_071242
Natural varianti322 – 3221R → Q in NPHS2. 1 Publication
VAR_072158
Natural varianti333 – 3331E → G in NPHS2; unknown pathological significance. 1 Publication
VAR_071243
Natural varianti341 – 3411P → S in NPHS2. 1 Publication
VAR_072159
Natural varianti370 – 3701V → G in NPHS2. 1 Publication
VAR_072160

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.
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. Positions 164-326.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113590. 6 interactions.
IntActiQ9NP85. 1 interaction.
STRINGi9606.ENSP00000356587.

PTM databases

PhosphoSiteiQ9NP85.

Polymorphism databases

DMDMi12230467.

Proteomic databases

PaxDbiQ9NP85.
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.4. human. [Q9NP85-1]
uc009wxi.3. human. [Q9NP85-2]

Organism-specific databases

CTDi7827.
GeneCardsiGC01M179519.
HGNCiHGNC:13394. NPHS2.
HPAiCAB037267.
HPA049486.
MIMi600995. phenotype.
604766. gene.
neXtProtiNX_Q9NP85.
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

eggNOGiCOG0330.
GeneTreeiENSGT00550000074454.
HOGENOMiHOG000217040.
HOVERGENiHBG004815.
InParanoidiQ9NP85.
KOiK18268.
OMAiFIIMTFP.
OrthoDBiEOG78D7KJ.
PhylomeDBiQ9NP85.
TreeFamiTF105750.

Enzyme and pathway databases

ReactomeiREACT_23832. Nephrin interactions.

Miscellaneous databases

GeneWikiiNPHS2.
GenomeRNAii7827.
NextBioi30224.
PROiQ9NP85.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NP85.
CleanExiHS_NPHS2.
GenevestigatoriQ9NP85.

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]
ProtoNetiSearch...

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(1999) [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(2005) [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(2003) [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(2000) [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(2012) [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(2001) [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(2002) [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(2003) [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(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALA-44 AND VAL-61.
  11. Cited for: VARIANTS NPHS2 GLY-3; THR-18; MET-26; MET-28; GLN-30; LYS-30; LEU-39; THR-89; THR-115; LEU-122; TRP-124; VAL-192; ALA-211; THR-213; GLY-218; ASP-228; LEU-229; ASN-267; LEU-268; LEU-276; ALA-301 DEL; GLN-322 AND GLY-370.
  12. Cited for: VARIANT GLN-229.
  13. "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(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPHS2 PRO-116; ILE-187; ILE-221 AND ALA-281, VARIANT GLN-264.
  14. "Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome."
    Reiterova J., Safrankova H., Obeidova L., Stekrova J., Maixnerova D., Merta M., Tesar V.
    Folia Biol. (Praha) 58:64-68(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPHS2 MET-290.
  15. "A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan."
    Abid A., Khaliq S., Shahid S., Lanewala A., Mubarak M., Hashmi S., Kazi J., Masood T., Hafeez F., Naqvi S.A., Rizvi S.A., Mehdi S.Q.
    Gene 502:133-137(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPHS2 ASN-126; GLU-260 AND SER-341.
  16. "Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment."
    Carrasco-Miranda J.S., Garcia-Alvarez R., Sotelo-Mundo R.R., Valenzuela O., Islas-Osuna M.A., Sotelo-Cruz N.
    Genet. Mol. Res. 12:2102-2107(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPHS2 ARG-139 AND PRO-142.
  17. "NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children."
    Basiratnia M., Yavarian M., Torabinezhad S., Erjaee A.
    Iran. J. Kidney Dis. 7:357-362(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPHS2 LEU-118; GLY-160; CYS-168; MET-180 AND SER-238.
  18. Cited for: VARIANTS NPHS2 GLN-138 AND MET-290.
  19. "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(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLN-229, POSSIBLE ROLE AS DISEASE MODIFIER IN NPHS2.
  20. 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.
  21. "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(2013) [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: February 4, 2015
This is version 118 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

External Data

Dasty 3

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 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.