PODO_HUMAN
ID PODO_HUMAN Reviewed; 383 AA.
AC Q9NP85; B1AM32; B1AM33; Q8N6Q5;
DT 11-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Podocin;
GN Name=NPHS2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS NPHS2 RP
RP CYS-92; GLN-138; GLY-160; MET-180 AND TRP-291, AND VARIANT LEU-20.
RC TISSUE=Kidney;
RX PubMed=10742096; DOI=10.1038/74166;
RA Boute N., Gribouval O., Roselli S., Benessy F., Lee H., Fuchshuber A.,
RA Dahan K., Gubler M.-C., Niaudet P., Antignac C.;
RT "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal
RT recessive steroid-resistant nephrotic syndrome.";
RL Nat. Genet. 24:349-354(2000).
RN [2]
RP ERRATUM OF PUBMED:10742096.
RX PubMed=10802674; DOI=10.1038/75532;
RA Boute N., Gribouval O., Roselli S., Benessy F., Lee H., Fuchshuber A.,
RA Dahan K., Gubler M.-C., Niaudet P., Antignac C.;
RL Nat. Genet. 25:125-125(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Colon, and Kidney;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP INTERACTION WITH NPHS1.
RX PubMed=11562357; DOI=10.1074/jbc.c100452200;
RA Huber T.B., Kottgen M., Schilling B., Walz G., Benzing T.;
RT "Interaction with podocin facilitates nephrin signaling.";
RL J. Biol. Chem. 276:41543-41546(2001).
RN [7]
RP ALTERNATIVE SPLICING (ISOFORM 2), SUBCELLULAR LOCATION (ISOFORM 2), AND
RP GLYCOSYLATION AT ASN-287 (ISOFORM 2).
RC TISSUE=Kidney;
RX PubMed=23648087; DOI=10.1186/1471-2369-14-102;
RA Volker L.A., Schurek E.M., Rinschen M.M., Tax J., Schutte B.A.,
RA Lamkemeyer T., Ungrue D., Schermer B., Benzing T., Hohne M.;
RT "Characterization of a short isoform of the kidney protein podocin in human
RT kidney.";
RL BMC Nephrol. 14:102-102(2013).
RN [8]
RP VARIANT NPHS2 GLN-229, AND INVOLVEMENT IN NPHS2.
RX PubMed=12464671; DOI=10.1172/jci16242;
RA Tsukaguchi H., Sudhakar A., Le T.C., Nguyen T., Yao J., Schwimmer J.A.,
RA Schachter A.D., Poch E., Abreu P.F., Appel G.B., Pereira A.B., Kalluri R.,
RA Pollak M.R.;
RT "NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is
RT a common disease-associated allele.";
RL J. Clin. Invest. 110:1659-1666(2002).
RN [9]
RP VARIANT GLU-34.
RX PubMed=12687458; DOI=10.1007/s00467-003-1120-6;
RA Maruyama K., Iijima K., Ikeda M., Kitamura A., Tsukaguchi H., Yoshiya K.,
RA Hoshii S., Wada N., Uemura O., Satomura K., Honda M., Yoshikawa N.;
RT "NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in
RT Japanese children.";
RL Pediatr. Nephrol. 18:412-416(2003).
RN [10]
RP VARIANTS NPHS2 THR-29; LEU-118; CYS-168; HIS-168; SER-168; VAL-172;
RP THR-208; 236-LEU--ARG-238 DEL; SER-238 AND GLU-260, AND VARIANTS VAL-61;
RP GLN-237 AND VAL-242.
RX PubMed=15253708; DOI=10.1111/j.1523-1755.2004.00776.x;
RA Weber S., Gribouval O., Esquivel E.L., Moriniere V., Tete M.J.,
RA Legendre C., Niaudet P., Antignac C.;
RT "NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant
RT nephrotic syndrome and low post-transplant recurrence.";
RL Kidney Int. 66:571-579(2004).
RN [11]
RP VARIANTS ALA-44 AND VAL-61.
RX PubMed=15954915; DOI=10.1111/j.1523-1755.2005.00400.x;
RA Dusel J.A., Burdon K.P., Hicks P.J., Hawkins G.A., Bowden D.W.,
RA Freedman B.I.;
RT "Identification of podocin (NPHS2) gene mutations in African Americans with
RT nondiabetic end-stage renal disease.";
RL Kidney Int. 68:256-262(2005).
RN [12]
RP VARIANTS NPHS2 GLY-3; THR-18; MET-26; MET-28; GLN-30; LYS-30; LEU-39;
RP THR-89; THR-115; LEU-122; TRP-124; VAL-192; ALA-211; THR-213; GLY-218;
RP ASP-228; LEU-229; ASN-267; LEU-268; LEU-276; ALA-301 DEL; GLN-322 AND
RP GLY-370.
RX PubMed=17899208; DOI=10.1007/s00467-007-0595-y;
RA Berdeli A., Mir S., Yavascan O., Serdaroglu E., Bak M., Aksu N., Oner A.,
RA Anarat A., Donmez O., Yildiz N., Sever L., Tabel Y., Dusunsel R.,
RA Sonmez F., Cakar N.;
RT "NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic
RT syndrome.";
RL Pediatr. Nephrol. 22:2031-2040(2007).
RN [13]
RP VARIANTS NPHS2 138-ARG--LEU-383 DEL; GLN-138; HIS-168; GLN-229; TRP-291;
RP VAL-310 AND ARG-328, AND VARIANTS MET-290 AND VAL-297.
RX PubMed=20798252; DOI=10.2215/cjn.01190210;
RA Buescher A.K., Kranz B., Buescher R., Hildebrandt F., Dworniczak B.,
RA Pennekamp P., Kuwertz-Broeking E., Wingen A.M., John U., Kemper M.,
RA Monnens L., Hoyer P.F., Weber S., Konrad M.;
RT "Immunosuppression and renal outcome in congenital and pediatric steroid-
RT resistant nephrotic syndrome.";
RL Clin. J. Am. Soc. Nephrol. 5:2075-2084(2010).
RN [14]
RP VARIANT GLN-229.
RX PubMed=21722858; DOI=10.1016/j.ajhg.2011.05.026;
RA Ozaltin F., Ibsirlioglu T., Taskiran E.Z., Baydar D.E., Kaymaz F.,
RA Buyukcelik M., Kilic B.D., Balat A., Iatropoulos P., Asan E., Akarsu N.A.,
RA Schaefer F., Yilmaz E., Bakkaloglu A.;
RT "Disruption of PTPRO causes childhood-onset nephrotic syndrome.";
RL Am. J. Hum. Genet. 89:139-147(2011).
RN [15]
RP VARIANTS NPHS2 PRO-116; ILE-187; ILE-221 AND ALA-281, AND VARIANT GLN-264.
RX PubMed=20947785; DOI=10.2215/cjn.03770410;
RA Santin S., Tazon-Vega B., Silva I., Cobo M.A., Gimenez I., Ruiz P.,
RA Garcia-Maset R., Ballarin J., Torra R., Ars E., Fraga G., Mendizabel S.,
RA Zamora I., Pena A., Espinosa L., Garcia C., Melgosa M., Navarro M.,
RA Lopez-Hellin J., Chocron S., Madrid A., Vilalta R., Nieto J.L., Ventura C.,
RA Gimenez A., Cots J.V., Camacho J.A., Sanchez-Moreno A., de la Cerda F.,
RA Salido E., Ortiz A., Alexandra S., Caramelo C., Egido J., Bernis C.,
RA Luque de Pablos A., Morales San Jose M.D., Pintos G., Sala P., Raspall F.,
RA Vila A., Daza M., Vazquez M., Ecija L., Espinosa M., Poveda R.,
RA Mirapeix E., Vallejo G., Aparicio C., Rosell J., de Sotto D., Muley R.,
RA Montenegro J., Gonzalez D., Barajas de Frutos D., Trillo E.,
RA Gainza de los Rios F.J., Justa M.L., Hidalgo-Barquero E.;
RT "Clinical value of NPHS2 analysis in early- and adult-onset steroid-
RT resistant nephrotic syndrome.";
RL Clin. J. Am. Soc. Nephrol. 6:344-354(2011).
RN [16]
RP VARIANT NPHS2 MET-290.
RX PubMed=22578956;
RA Reiterova J., Safrankova H., Obeidova L., Stekrova J., Maixnerova D.,
RA Merta M., Tesar V.;
RT "Mutational analysis of the NPHS2 gene in Czech patients with idiopathic
RT nephrotic syndrome.";
RL Folia Biol. (Praha) 58:64-68(2012).
RN [17]
RP VARIANTS NPHS2 ASN-126; GLU-260 AND SER-341.
RX PubMed=22565185; DOI=10.1016/j.gene.2012.04.063;
RA Abid A., Khaliq S., Shahid S., Lanewala A., Mubarak M., Hashmi S., Kazi J.,
RA Masood T., Hafeez F., Naqvi S.A., Rizvi S.A., Mehdi S.Q.;
RT "A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic
RT syndrome patients from Pakistan.";
RL Gene 502:133-137(2012).
RN [18]
RP VARIANTS NPHS2 ARG-139 AND PRO-142.
RX PubMed=23913389; DOI=10.4238/2013.june.24.1;
RA Carrasco-Miranda J.S., Garcia-Alvarez R., Sotelo-Mundo R.R., Valenzuela O.,
RA Islas-Osuna M.A., Sotelo-Cruz N.;
RT "Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome
RT who respond to standard steroid treatment.";
RL Genet. Mol. Res. 12:2102-2107(2013).
RN [19]
RP VARIANTS NPHS2 LEU-118; GLY-160; CYS-168; MET-180 AND SER-238.
RX PubMed=24072147;
RA Basiratnia M., Yavarian M., Torabinezhad S., Erjaee A.;
RT "NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical
RT course, and mutational spectrum in South-West Iranian children.";
RL Iran. J. Kidney Dis. 7:357-362(2013).
RN [20]
RP VARIANTS NPHS2 GLN-138 AND MET-290.
RX PubMed=23242530; DOI=10.1007/s00467-012-2379-2;
RA Kerti A., Csohany R., Szabo A., Arkossy O., Sallay P., Moriniere V.,
RA Vega-Warner V., Nyiro G., Lakatos O., Szabo T., Lipska B.S., Schaefer F.,
RA Antignac C., Reusz G., Tulassay T., Tory K.;
RT "NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic
RT syndrome.";
RL Pediatr. Nephrol. 28:751-757(2013).
RN [21]
RP VARIANT NPHS2 GLN-229, AND POSSIBLE ROLE AS DISEASE MODIFIER IN NPHS2.
RX PubMed=23800802; DOI=10.1007/s00467-013-2542-4;
RA Kerti A., Csohany R., Wagner L., Javorszky E., Maka E., Tory K.;
RT "NPHS2 homozygous p.R229Q variant: potential modifier instead of causal
RT effect in focal segmental glomerulosclerosis.";
RL Pediatr. Nephrol. 28:2061-2064(2013).
RN [22]
RP VARIANTS NPHS2 SER-97; PRO-107; SER-122; VAL-175; TYR-183; LYS-281;
RP LYS-296; VAL-309; ILE-315 AND GLY-333, AND VARIANTS LEU-20; GLN-237 AND
RP GLN-264.
RX PubMed=24227627; DOI=10.1002/humu.22485;
RA Bouchireb K., Boyer O., Gribouval O., Nevo F., Huynh-Cong E., Moriniere V.,
RA Campait R., Ars E., Brackman D., Dantal J., Eckart P., Gigante M.,
RA Lipska B.S., Liutkus A., Megarbane A., Mohsin N., Ozaltin F., Saleem M.A.,
RA Schaefer F., Soulami K., Torra R., Garcelon N., Mollet G., Dahan K.,
RA Antignac C.;
RT "NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update
RT and the associated phenotypic spectrum.";
RL Hum. Mutat. 35:178-186(2014).
RN [23]
RP VARIANT NPHS2 GLN-229.
RX PubMed=24509478; DOI=10.1038/ng.2898;
RA Tory K., Menyhard D.K., Woerner S., Nevo F., Gribouval O., Kerti A.,
RA Straner P., Arrondel C., Cong E.H., Tulassay T., Mollet G., Perczel A.,
RA Antignac C.;
RT "Mutation-dependent recessive inheritance of NPHS2-associated steroid-
RT resistant nephrotic syndrome.";
RL Nat. Genet. 46:299-304(2014).
RN [24]
RP VARIANTS NPHS2 GLN-229; GLU-260; VAL-284 AND LYS-310.
RX PubMed=26420286; DOI=10.1186/s12881-015-0231-9;
RA Guaragna M.S., Lutaif A.C., Piveta C.S., Souza M.L., de Souza S.R.,
RA Henriques T.B., Maciel-Guerra A.T., Belangero V.M., Guerra-Junior G.,
RA De Mello M.P.;
RT "NPHS2 mutations account for only 15% of nephrotic syndrome cases.";
RL BMC Med. Genet. 16:88-88(2015).
RN [25]
RP VARIANT NPHS2 GLN-229.
RX PubMed=27004616; DOI=10.1038/ejhg.2016.24;
RA Lamont R.E., Tan W.H., Innes A.M., Parboosingh J.S., Schneidman-Duhovny D.,
RA Rajkovic A., Pappas J., Altschwager P., DeWard S., Fulton A., Gray K.J.,
RA Krall M., Mehta L., Rodan L.H., Saller D.N. Jr., Steele D., Stein D.,
RA Yatsenko S.A., Bernier F.P., Slavotinek A.M.;
RT "Expansion of phenotype and genotypic data in CRB2-related syndrome.";
RL Eur. J. Hum. Genet. 24:1436-1444(2016).
CC -!- FUNCTION: Plays a role in the regulation of glomerular permeability,
CC acting probably as a linker between the plasma membrane and the
CC cytoskeleton.
CC -!- SUBUNIT: Interacts with nephrin/NPHS1 and KIRREL1. Interacts directly
CC with CD2AP. Interacts with DDN (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q9NP85; P46940: IQGAP1; NbExp=4; IntAct=EBI-6897706, EBI-297509;
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane {ECO:0000305};
CC Peripheral membrane protein {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Endoplasmic reticulum
CC {ECO:0000269|PubMed:23648087}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NP85-1; Sequence=Displayed;
CC Name=2; Synonyms=Pod-short;
CC IsoId=Q9NP85-2; Sequence=VSP_000499;
CC -!- TISSUE SPECIFICITY: Almost exclusively expressed in the podocytes of
CC fetal and mature kidney glomeruli.
CC -!- PTM: [Isoform 2]: Glycosylated. {ECO:0000269|PubMed:23648087}.
CC -!- DISEASE: Nephrotic syndrome 2 (NPHS2) [MIM:600995]: A form of nephrotic
CC syndrome, a renal disease clinically characterized by severe
CC proteinuria, resulting in complications such as hypoalbuminemia,
CC hyperlipidemia and edema. Kidney biopsies show non-specific histologic
CC changes such as focal segmental glomerulosclerosis and diffuse
CC mesangial proliferation. The disorder is resistant to steroid treatment
CC and progresses to end-stage renal failure in the first or second
CC decades. Some patients show later onset of the disorder.
CC {ECO:0000269|PubMed:10742096, ECO:0000269|PubMed:12464671,
CC ECO:0000269|PubMed:15253708, ECO:0000269|PubMed:17899208,
CC ECO:0000269|PubMed:20798252, ECO:0000269|PubMed:20947785,
CC ECO:0000269|PubMed:22565185, ECO:0000269|PubMed:22578956,
CC ECO:0000269|PubMed:23242530, ECO:0000269|PubMed:23800802,
CC ECO:0000269|PubMed:23913389, ECO:0000269|PubMed:24072147,
CC ECO:0000269|PubMed:24227627, ECO:0000269|PubMed:24509478,
CC ECO:0000269|PubMed:26420286, ECO:0000269|PubMed:27004616}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the band 7/mec-2 family. {ECO:0000305}.
CC -!- CAUTION: Variants Leu-20 and Gln-264 have been originally reported as
CC disease-causing mutations in NPHS2 (PubMed:10742096, PubMed:20947785).
CC In contrast, Gln-237 has been described as a variant of unknown
CC pathological significance (PubMed:15253708). They have been
CC reclassified as neutral variants (PubMed:24227627). {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Nephrosis 2, idiopathic, steroid-resistant (podocin)
CC (NPHS2); Note=Leiden Open Variation Database (LOVD);
CC URL="https://databases.lovd.nl/shared/genes/NPHS2";
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DR EMBL; AJ279246; CAB83272.1; -; Genomic_DNA.
DR EMBL; AJ279247; CAB83272.1; JOINED; Genomic_DNA.
DR EMBL; AJ279248; CAB83272.1; JOINED; Genomic_DNA.
DR EMBL; AJ279249; CAB83272.1; JOINED; Genomic_DNA.
DR EMBL; AJ279250; CAB83272.1; JOINED; Genomic_DNA.
DR EMBL; AJ279251; CAB83272.1; JOINED; Genomic_DNA.
DR EMBL; AJ279252; CAB83272.1; JOINED; Genomic_DNA.
DR EMBL; AJ279253; CAB83272.1; JOINED; Genomic_DNA.
DR EMBL; AJ279254; CAB83216.1; -; mRNA.
DR EMBL; AL160286; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471067; EAW91049.1; -; Genomic_DNA.
DR EMBL; CH471067; EAW91050.1; -; Genomic_DNA.
DR EMBL; BC029141; AAH29141.1; -; mRNA.
DR CCDS; CCDS1331.1; -. [Q9NP85-1]
DR CCDS; CCDS72988.1; -. [Q9NP85-2]
DR RefSeq; NP_001284504.1; NM_001297575.1. [Q9NP85-2]
DR RefSeq; NP_055440.1; NM_014625.3. [Q9NP85-1]
DR AlphaFoldDB; Q9NP85; -.
DR SMR; Q9NP85; -.
DR BioGRID; 113590; 5.
DR IntAct; Q9NP85; 1.
DR STRING; 9606.ENSP00000356587; -.
DR TCDB; 8.A.21.1.2; the stomatin/podocin/band 7/nephrosis,2/spfh (stomatin) family.
DR iPTMnet; Q9NP85; -.
DR PhosphoSitePlus; Q9NP85; -.
DR BioMuta; NPHS2; -.
DR DMDM; 12230467; -.
DR jPOST; Q9NP85; -.
DR MassIVE; Q9NP85; -.
DR PaxDb; Q9NP85; -.
DR PeptideAtlas; Q9NP85; -.
DR PRIDE; Q9NP85; -.
DR ProteomicsDB; 81929; -. [Q9NP85-1]
DR ProteomicsDB; 81930; -. [Q9NP85-2]
DR Antibodypedia; 34420; 133 antibodies from 31 providers.
DR DNASU; 7827; -.
DR Ensembl; ENST00000367615.9; ENSP00000356587.4; ENSG00000116218.13. [Q9NP85-1]
DR Ensembl; ENST00000367616.4; ENSP00000356588.4; ENSG00000116218.13. [Q9NP85-2]
DR GeneID; 7827; -.
DR KEGG; hsa:7827; -.
DR MANE-Select; ENST00000367615.9; ENSP00000356587.4; NM_014625.4; NP_055440.1.
DR UCSC; uc001gmq.5; human. [Q9NP85-1]
DR CTD; 7827; -.
DR DisGeNET; 7827; -.
DR GeneCards; NPHS2; -.
DR HGNC; HGNC:13394; NPHS2.
DR HPA; ENSG00000116218; Tissue enriched (kidney).
DR MalaCards; NPHS2; -.
DR MIM; 600995; phenotype.
DR MIM; 604766; gene.
DR neXtProt; NX_Q9NP85; -.
DR OpenTargets; ENSG00000116218; -.
DR Orphanet; 656; Genetic steroid-resistant nephrotic syndrome.
DR PharmGKB; PA31710; -.
DR VEuPathDB; HostDB:ENSG00000116218; -.
DR eggNOG; KOG2621; Eukaryota.
DR GeneTree; ENSGT01030000234614; -.
DR HOGENOM; CLU_024949_3_0_1; -.
DR InParanoid; Q9NP85; -.
DR OMA; SVTCVWG; -.
DR OrthoDB; 1062075at2759; -.
DR PhylomeDB; Q9NP85; -.
DR TreeFam; TF105750; -.
DR PathwayCommons; Q9NP85; -.
DR Reactome; R-HSA-373753; Nephrin family interactions.
DR SignaLink; Q9NP85; -.
DR BioGRID-ORCS; 7827; 10 hits in 1065 CRISPR screens.
DR ChiTaRS; NPHS2; human.
DR GeneWiki; NPHS2; -.
DR GenomeRNAi; 7827; -.
DR Pharos; Q9NP85; Tbio.
DR PRO; PR:Q9NP85; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9NP85; protein.
DR Bgee; ENSG00000116218; Expressed in renal glomerulus and 32 other tissues.
DR Genevisible; Q9NP85; HS.
DR GO; GO:0005911; C:cell-cell junction; IDA:UniProtKB.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0031235; C:intrinsic component of the cytoplasmic side of the plasma membrane; IDA:UniProtKB.
DR GO; GO:0045121; C:membrane raft; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0032991; C:protein-containing complex; IDA:UniProtKB.
DR GO; GO:0036057; C:slit diaphragm; IEA:Ensembl.
DR GO; GO:0031532; P:actin cytoskeleton reorganization; IDA:UniProtKB.
DR GO; GO:0003094; P:glomerular filtration; TAS:ProtInc.
DR GO; GO:0072249; P:metanephric podocyte development; IEP:UniProtKB.
DR Gene3D; 3.30.479.30; -; 1.
DR InterPro; IPR043202; Band-7_stomatin-like.
DR InterPro; IPR001107; Band_7.
DR InterPro; IPR036013; Band_7/SPFH_dom_sf.
DR InterPro; IPR018080; Band_7/stomatin-like_CS.
DR InterPro; IPR001972; Stomatin_HflK_HflKC_fam.
DR PANTHER; PTHR10264; PTHR10264; 1.
DR Pfam; PF01145; Band_7; 1.
DR PRINTS; PR00721; STOMATIN.
DR SMART; SM00244; PHB; 1.
DR SUPFAM; SSF117892; SSF117892; 1.
DR PROSITE; PS01270; BAND_7; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Disease variant;
KW Endoplasmic reticulum; Glycoprotein; Lipoprotein; Membrane; Palmitate;
KW Reference proteome.
FT CHAIN 1..383
FT /note="Podocin"
FT /id="PRO_0000094035"
FT TOPO_DOM 1..102
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT INTRAMEM 103..123
FT /evidence="ECO:0000255"
FT TOPO_DOM 124..383
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 1..76
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 355..383
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..37
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT LIPID 101
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000250"
FT VAR_SEQ 179..246
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_000499"
FT VARIANT 3
FT /note="R -> G (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072134"
FT VARIANT 18
FT /note="R -> T (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072135"
FT VARIANT 20
FT /note="P -> L (in dbSNP:rs74315344)"
FT /evidence="ECO:0000269|PubMed:10742096,
FT ECO:0000269|PubMed:24227627"
FT /id="VAR_010231"
FT VARIANT 26
FT /note="R -> M (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072136"
FT VARIANT 28
FT /note="K -> M (in NPHS2; dbSNP:rs1340195940)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072137"
FT VARIANT 29
FT /note="A -> T (in NPHS2; dbSNP:rs561887984)"
FT /evidence="ECO:0000269|PubMed:15253708"
FT /id="VAR_071212"
FT VARIANT 30
FT /note="E -> K (in NPHS2; dbSNP:rs1477180313)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072138"
FT VARIANT 30
FT /note="E -> Q (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072139"
FT VARIANT 34
FT /note="G -> E"
FT /evidence="ECO:0000269|PubMed:12687458"
FT /id="VAR_071213"
FT VARIANT 39
FT /note="Q -> L (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072140"
FT VARIANT 44
FT /note="E -> A"
FT /evidence="ECO:0000269|PubMed:15954915"
FT /id="VAR_071214"
FT VARIANT 61
FT /note="A -> V (in dbSNP:rs201050491)"
FT /evidence="ECO:0000269|PubMed:15253708,
FT ECO:0000269|PubMed:15954915"
FT /id="VAR_071215"
FT VARIANT 89
FT /note="P -> T (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072141"
FT VARIANT 92
FT /note="G -> C (in NPHS2; dbSNP:rs74315345)"
FT /evidence="ECO:0000269|PubMed:10742096"
FT /id="VAR_010232"
FT VARIANT 97
FT /note="G -> S (in NPHS2; unknown pathological significance;
FT dbSNP:rs200913299)"
FT /evidence="ECO:0000269|PubMed:24227627"
FT /id="VAR_071216"
FT VARIANT 107
FT /note="L -> P (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:24227627"
FT /id="VAR_071217"
FT VARIANT 115
FT /note="M -> T (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072142"
FT VARIANT 116
FT /note="T -> P (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:20947785"
FT /id="VAR_071218"
FT VARIANT 118
FT /note="P -> L (in NPHS2; dbSNP:rs869025495)"
FT /evidence="ECO:0000269|PubMed:15253708,
FT ECO:0000269|PubMed:24072147"
FT /id="VAR_071219"
FT VARIANT 122
FT /note="W -> L (in NPHS2; dbSNP:rs750332447)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072143"
FT VARIANT 122
FT /note="W -> S (in NPHS2; dbSNP:rs750332447)"
FT /evidence="ECO:0000269|PubMed:24227627"
FT /id="VAR_071220"
FT VARIANT 124
FT /note="C -> W (in NPHS2; dbSNP:rs139290621)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072144"
FT VARIANT 126
FT /note="K -> N (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:22565185"
FT /id="VAR_072145"
FT VARIANT 138..383
FT /note="Missing (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:20798252"
FT /id="VAR_079808"
FT VARIANT 138
FT /note="R -> Q (in NPHS2; dbSNP:rs74315342)"
FT /evidence="ECO:0000269|PubMed:10742096,
FT ECO:0000269|PubMed:20798252, ECO:0000269|PubMed:23242530"
FT /id="VAR_010233"
FT VARIANT 139
FT /note="L -> R (in NPHS2; dbSNP:rs1345260812)"
FT /evidence="ECO:0000269|PubMed:23913389"
FT /id="VAR_072146"
FT VARIANT 142
FT /note="L -> P (in NPHS2; dbSNP:rs12240233)"
FT /evidence="ECO:0000269|PubMed:23913389"
FT /id="VAR_072147"
FT VARIANT 160
FT /note="D -> G (in NPHS2; dbSNP:rs74315346)"
FT /evidence="ECO:0000269|PubMed:10742096,
FT ECO:0000269|PubMed:24072147"
FT /id="VAR_010234"
FT VARIANT 168
FT /note="R -> C (in NPHS2; dbSNP:rs786204583)"
FT /evidence="ECO:0000269|PubMed:15253708,
FT ECO:0000269|PubMed:24072147"
FT /id="VAR_071221"
FT VARIANT 168
FT /note="R -> H (in NPHS2; dbSNP:rs530318579)"
FT /evidence="ECO:0000269|PubMed:15253708,
FT ECO:0000269|PubMed:20798252"
FT /id="VAR_071222"
FT VARIANT 168
FT /note="R -> S (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:15253708"
FT /id="VAR_071223"
FT VARIANT 172
FT /note="L -> V (in NPHS2; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:15253708"
FT /id="VAR_071224"
FT VARIANT 175
FT /note="P -> V (in NPHS2; requires 2 nucleotide
FT substitutions)"
FT /evidence="ECO:0000269|PubMed:24227627"
FT /id="VAR_071225"
FT VARIANT 180
FT /note="V -> M (in NPHS2; dbSNP:rs74315347)"
FT /evidence="ECO:0000269|PubMed:10742096,
FT ECO:0000269|PubMed:24072147"
FT /id="VAR_010235"
FT VARIANT 183
FT /note="D -> Y (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:24227627"
FT /id="VAR_071226"
FT VARIANT 187
FT /note="M -> I (in NPHS2; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:20947785"
FT /id="VAR_071227"
FT VARIANT 192
FT /note="I -> V (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072148"
FT VARIANT 208
FT /note="A -> T (in NPHS2; dbSNP:rs200587413)"
FT /evidence="ECO:0000269|PubMed:15253708"
FT /id="VAR_071228"
FT VARIANT 211
FT /note="S -> A (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072149"
FT VARIANT 213
FT /note="A -> T (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072150"
FT VARIANT 218
FT /note="V -> G (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072151"
FT VARIANT 221
FT /note="T -> I (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:20947785"
FT /id="VAR_071229"
FT VARIANT 228
FT /note="H -> D (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072152"
FT VARIANT 229
FT /note="R -> L (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072153"
FT VARIANT 229
FT /note="R -> Q (in NPHS2; unknown pathological significance;
FT dbSNP:rs61747728)"
FT /evidence="ECO:0000269|PubMed:12464671,
FT ECO:0000269|PubMed:20798252, ECO:0000269|PubMed:21722858,
FT ECO:0000269|PubMed:23800802, ECO:0000269|PubMed:24509478,
FT ECO:0000269|PubMed:26420286, ECO:0000269|PubMed:27004616"
FT /id="VAR_071230"
FT VARIANT 236..238
FT /note="Missing (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:15253708"
FT /id="VAR_071231"
FT VARIANT 237
FT /note="E -> Q (in dbSNP:rs146906190)"
FT /evidence="ECO:0000269|PubMed:15253708,
FT ECO:0000269|PubMed:24227627"
FT /id="VAR_071232"
FT VARIANT 238
FT /note="R -> S (in NPHS2; dbSNP:rs748812981)"
FT /evidence="ECO:0000269|PubMed:15253708,
FT ECO:0000269|PubMed:24072147"
FT /id="VAR_071233"
FT VARIANT 242
FT /note="A -> V (in dbSNP:rs61747727)"
FT /evidence="ECO:0000269|PubMed:15253708"
FT /id="VAR_071234"
FT VARIANT 260
FT /note="V -> E (in NPHS2; dbSNP:rs775006954)"
FT /evidence="ECO:0000269|PubMed:15253708,
FT ECO:0000269|PubMed:22565185, ECO:0000269|PubMed:26420286"
FT /id="VAR_071235"
FT VARIANT 264
FT /note="E -> Q (in dbSNP:rs369697947)"
FT /evidence="ECO:0000269|PubMed:20947785,
FT ECO:0000269|PubMed:24227627"
FT /id="VAR_071236"
FT VARIANT 267
FT /note="D -> N (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072154"
FT VARIANT 268
FT /note="V -> L (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072155"
FT VARIANT 276
FT /note="H -> L (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072156"
FT VARIANT 281
FT /note="E -> A (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:20947785"
FT /id="VAR_071237"
FT VARIANT 281
FT /note="E -> K (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:24227627"
FT /id="VAR_071238"
FT VARIANT 284
FT /note="A -> V (in NPHS2; unknown pathological significance;
FT dbSNP:rs780761368)"
FT /evidence="ECO:0000269|PubMed:26420286"
FT /id="VAR_075617"
FT VARIANT 290
FT /note="V -> M (in NPHS2; dbSNP:rs200482683)"
FT /evidence="ECO:0000269|PubMed:20798252,
FT ECO:0000269|PubMed:22578956, ECO:0000269|PubMed:23242530"
FT /id="VAR_071239"
FT VARIANT 291
FT /note="R -> W (in NPHS2; dbSNP:rs74315348)"
FT /evidence="ECO:0000269|PubMed:10742096,
FT ECO:0000269|PubMed:20798252"
FT /id="VAR_010236"
FT VARIANT 296
FT /note="E -> K (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:24227627"
FT /id="VAR_071240"
FT VARIANT 297
FT /note="A -> V (in dbSNP:rs199506378)"
FT /evidence="ECO:0000269|PubMed:20798252"
FT /id="VAR_079809"
FT VARIANT 301
FT /note="Missing (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072157"
FT VARIANT 309
FT /note="A -> V (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:24227627"
FT /id="VAR_071241"
FT VARIANT 310
FT /note="E -> K (in NPHS2; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:26420286"
FT /id="VAR_075618"
FT VARIANT 310
FT /note="E -> V (in NPHS2; unknown pathological significance;
FT dbSNP:rs1572255744)"
FT /evidence="ECO:0000269|PubMed:20798252"
FT /id="VAR_079810"
FT VARIANT 315
FT /note="T -> I (in NPHS2; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:24227627"
FT /id="VAR_071242"
FT VARIANT 322
FT /note="R -> Q (in NPHS2; dbSNP:rs776859868)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072158"
FT VARIANT 328
FT /note="Q -> R (in NPHS2; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:20798252"
FT /id="VAR_079811"
FT VARIANT 333
FT /note="E -> G (in NPHS2; unknown pathological significance;
FT dbSNP:rs866921812)"
FT /evidence="ECO:0000269|PubMed:24227627"
FT /id="VAR_071243"
FT VARIANT 341
FT /note="P -> S (in NPHS2; dbSNP:rs1214047676)"
FT /evidence="ECO:0000269|PubMed:22565185"
FT /id="VAR_072159"
FT VARIANT 370
FT /note="V -> G (in NPHS2)"
FT /evidence="ECO:0000269|PubMed:17899208"
FT /id="VAR_072160"
FT CARBOHYD Q9NP85-2:287
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:23648087"
SQ SEQUENCE 383 AA; 42201 MW; BBB57783C840F752 CRC64;
MERRARSSSR ESRGRGGRTP HKENKRAKAE RSGGGRGRQE AGPEPSGSGR AGTPGEPRAP
AATVVDVDEV RGSGEEGTEV VALLESERPE EGTKSSGLGA CEWLLVLISL LFIIMTFPFS
IWFCVKVVQE YERVIIFRLG HLLPGRAKGP GLFFFLPCLD TYHKVDLRLQ TLEIPFHEIV
TKDMFIMEID AICYYRMENA SLLLSSLAHV SKAVQFLVQT TMKRLLAHRS LTEILLERKS
IAQDAKVALD SVTCIWGIKV ERIEIKDVRL PAGLQHSLAV EAEAQRQAKV RMIAAEAEKA
ASESLRMAAE ILSGTPAAVQ LRYLHTLQSL STEKPSTVVL PLPFDLLNCL SSPSNRTQGS
LPFPSPSKPV EPLNPKKKDS PML
