NPHS2
entrez
7827
canonical
uniprot
Q9NP85
canonical
ensembl
ENSG00000116218
resolver
ensp
ENSP00000356587
resolver
ensp
ENSP00000356588
resolver
ensp
ENSP00000572315
resolver
genesymbol
NPHS2
resolver
hgnc
HGNC:13394
resolver
uniprot
B1AM32
resolver
uniprot
B1AM33
resolver
uniprot
Q8N6Q5
resolver
uniprot_entry
PODO_HUMAN
resolver
uniprot_sec
B1AM32
resolver
uniprot_sec
B1AM33
resolver
uniprot_sec
Q8N6Q5
resolver
amino_acid_sequence
MERRARSSSRESRGRGGRTPHKENKRAKAERSGGGRGRQEAGPEPSGSGRAGTPGEPRAPAATVVDVDEVRGSGEEGTEVVALLESERPEEGTKSSGLGACEWLLVLISLLFIIMTFPFSIWFCVKVVQEYERVIIFRLGHLLPGRAKGPGLFFFLPCLDTYHKVDLRLQTLEIPFHEIVTKDMFIMEIDAICYYRMENASLLLSSLAHVSKAVQFLVQTTMKRLLAHRSLTEILLERKSIAQDAKVALDSVTCIWGIKVERIEIKDVRLPAGLQHSLAVEAEAQRQAKVRMIAAEAEKAASESLRMAAEILSGTPAAVQLRYLHTLQSLSTEKPSTVVLPLPFDLLNCLSSPSNRTQGSLPFPSPSKPVEPLNPKKKDSPML
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:10742096, ECO:0000269|PubMed:12464671, ECO:0000269|PubMed:15253708, ECO:0000269|PubMed:17899208, ECO:0000269|PubMed:20798252, ECO:0000269|PubMed:20947785, ECO:0000269|PubMed:22565185, ECO:0000269|PubMed:22578956, ECO:0000269|PubMed:23242530, ECO:0000269|PubMed:23595123, ECO:0000269|PubMed:23800802, ECO:0000269|PubMed:23913389, ECO:0000269|PubMed:24072147, ECO:0000269|PubMed:24227627, ECO:0000269|PubMed:24509478, ECO:0000269|PubMed:26420286, ECO:0000269|PubMed:27004616}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.
uniprot
proteins
mass_dalton
42201
uniprot
proteins
post_translational_modification
PTM: [Isoform 2]: Glycosylated. {ECO:0000269|PubMed:23648087}.
uniprot
proteins
protein_family
Band 7/mec-2 family
uniprot
proteins
pubmed
10742096
uniprot
proteins
pubmed
10802674
uniprot
proteins
pubmed
11562357
uniprot
proteins
pubmed
12464671
uniprot
proteins
pubmed
12687458
uniprot
proteins
pubmed
15253708
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15954915
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17899208
uniprot
proteins
pubmed
20798252
uniprot
proteins
pubmed
20947785
uniprot
proteins
pubmed
21722858
uniprot
proteins
pubmed
22565185
uniprot
proteins
pubmed
22578956
uniprot
proteins
pubmed
23242530
uniprot
proteins
pubmed
23595123
uniprot
proteins
pubmed
23648087
uniprot
proteins
pubmed
23800802
uniprot
proteins
pubmed
23913389
uniprot
proteins
pubmed
24072147
uniprot
proteins
pubmed
24227627
uniprot
proteins
pubmed
24509478
uniprot
proteins
pubmed
26420286
uniprot
proteins
pubmed
27004616
uniprot
proteins
sequence_length
383
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 2]: Endoplasmic reticulum {ECO:0000269|PubMed:23648087}.
uniprot
proteins