Podocin

NPHS2
Identifikatori
Aliasi	NPHS2
Vanjski ID-jevi	OMIM: 604766 MGI: 2157018 HomoloGene: 22826 GeneCards: NPHS2
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	179,575,952 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	156,155,605 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• Egzosom; • slit diaphragm; • Lipidni splav; • ćelijska membrana; • membrana; • intrinsic component of the cytoplasmic side of the plasma membrane; • cell-cell junction; • Endoplazmatski retikulum; • integral component of plasma membrane; • GO:0009327 makromolekulani kompleks;
Biološki proces	• actin cytoskeleton reorganization; • metanephric glomerular visceral epithelial cell development; • izlučivanje;
	Izvori:Amigo / QuickGO
Ortolozi
	7827
	170484
	ENSG00000116218
	ENSMUSG00000026602
	Q9NP85
	Q91X05
	NM_001297575; NM_014625
	NM_130456
	NP_001284504; NP_055440
	NP_569723
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Podocin je proteinska komponenta podocitnih proreza za filtriranje. Glomerulske kapilarne endotelne ćelije, glomerulska bazna membrana i filtracijski prorezi funkcioniraju kao filtracijska barijera bubrežnih glomerula.^[5] Mutacije u podocinskom genu NPHS2 mogu izazvati nefrotski sindrom, kao što je fokalna segmentna glomeruloskleroza (FSGS) ili bolest minimalnih promjena (MCD).^[6] Simptomi se mogu razviti u prvih nekoliko mjeseci života (kongenitalni nefrotski sindrom) ili kasnije u djetinjstvu.^[7]

Struktura[uredi | uredi izvor]

Podocin je membranski protein iz porodice somatostatinske trake-7, koji se sastoji od 383 aminokiseline. Ima transmembranski domen koja tvori strukturu ukosnice, s dva citoplazmatska kraja na N– i C-kraju, od kojih posljednji komunicira s citosolnim repom nefrina, a CD2AP služi kao adapter.^[8]

Funkcija[uredi | uredi izvor]

Podocin je lokaliziran na membranama pedicelima (drškama) podocita (dugi stopalasti nastavci), gdje se u lipidnom transporteru oligomerizira zajedno s nefrinom da bi formirao filtracijske proreze.^[8]

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000116218 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026602 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Jarad G, Miner JH (maj 2009). "Update on the glomerular filtration barrier". Current Opinion in Nephrology and Hypertension. 18 (3): 226–32. doi:10.1097/mnh.0b013e3283296044. PMC 2895306. PMID 19374010.
^ Mollet G, Ratelade J, Boyer O, Muda AO, Morisset L, Lavin TA, Kitzis D, Dallman MJ, Bugeon L, Hubner N, Gubler MC, Antignac C, Esquivel EL (oktobar 2009). "Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome". Journal of the American Society of Nephrology. 20 (10): 2181–9. doi:10.1681/ASN.2009040379. PMC 2754108. PMID 19713307.
^ Avner, Ellis D; Harmon, William E; Niaudet, Patrick; Yoshikawa, Norishige; Emma, Francesco; Goldstein, Stuart L (2016). Pediatric Nephrology. Springer. ISBN 9783662435960. OCLC 1050008865. Nepoznati parametar |name-list-format= zanemaren (prijedlog zamjene: |name-list-style=) (pomoć)
^ ^a ^b Tabassum A, Rajeshwari T, Soni N, Raju DS, Yadav M, Nayarisseri A, Jahan P (mart 2014). "Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach". Interdisciplinary Sciences, Computational Life Sciences. 6 (1): 32–9. doi:10.1007/s12539-014-0190-4. PMID 24464702.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000116218 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026602 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Jarad G, Miner JH (maj 2009). "Update on the glomerular filtration barrier". Current Opinion in Nephrology and Hypertension. 18 (3): 226–32. doi:10.1097/mnh.0b013e3283296044. PMC 2895306. PMID 19374010.

[6] Mollet G, Ratelade J, Boyer O, Muda AO, Morisset L, Lavin TA, Kitzis D, Dallman MJ, Bugeon L, Hubner N, Gubler MC, Antignac C, Esquivel EL (oktobar 2009). "Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome". Journal of the American Society of Nephrology. 20 (10): 2181–9. doi:10.1681/ASN.2009040379. PMC 2754108. PMID 19713307.

[7] Avner, Ellis D; Harmon, William E; Niaudet, Patrick; Yoshikawa, Norishige; Emma, Francesco; Goldstein, Stuart L (2016). Pediatric Nephrology. Springer. ISBN 9783662435960. OCLC 1050008865. Nepoznati parametar |name-list-format= zanemaren (prijedlog zamjene: |name-list-style=) (pomoć)

[pmid24464702-8] Tabassum A, Rajeshwari T, Soni N, Raju DS, Yadav M, Nayarisseri A, Jahan P (mart 2014). "Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach". Interdisciplinary Sciences, Computational Life Sciences. 6 (1): 32–9. doi:10.1007/s12539-014-0190-4. PMID 24464702.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]