LOCUS       NM_014625               1870 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens NPHS2 stomatin family member, podocin (NPHS2),
            transcript variant 1, mRNA.
ACCESSION   NM_014625
VERSION     NM_014625.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1870)
  AUTHORS   Kuzmuk,V., Pranke,I., Rollason,R., Butler,M., Ding,W.Y.,
            Beesley,M., Waters,A.M., Coward,R.J., Sessions,R., Tuffin,J.,
            Foster,R.R., Mollet,G., Antignac,C., Edelman,A., Welsh,G.I. and
            Saleem,M.A.
  TITLE     A small molecule chaperone rescues keratin-8 mediated trafficking
            of misfolded podocin to correct genetic Nephrotic Syndrome
  JOURNAL   Kidney Int 105 (4), 744-758 (2024)
   PUBMED   37995908
  REMARK    GeneRIF: A small molecule chaperone rescues keratin-8 mediated
            trafficking of misfolded podocin to correct genetic Nephrotic
            Syndrome.
REFERENCE   2  (bases 1 to 1870)
  AUTHORS   Pantel,D., Mertens,N.D., Schneider,R., Holzel,S., Kari,J.A.,
            Desoky,S.E., Shalaby,M.A., Lim,T.Y., Sanna-Cherchi,S., Shril,S. and
            Hildebrandt,F.
  TITLE     Copy number variation analysis in 138 families with
            steroid-resistant nephrotic syndrome identifies causal homozygous
            deletions in PLCE1 and NPHS2 in two families
  JOURNAL   Pediatr Nephrol 39 (2), 455-461 (2024)
   PUBMED   37670083
  REMARK    GeneRIF: Copy number variation analysis in 138 families with
            steroid-resistant nephrotic syndrome identifies causal homozygous
            deletions in PLCE1 and NPHS2 in two families.
REFERENCE   3  (bases 1 to 1870)
  AUTHORS   Al-Azzawy,M.F., Al-Haggar,M., ElSaid,A.M. and El-Khawaga,O.Y.
  TITLE     Analysis of the association of NPHS2 and ACTN4 genes polymorphism
            with nephrotic syndrome in Egyptian children
  JOURNAL   Mol Biol Rep 50 (5), 4481-4490 (2023)
   PUBMED   37014572
  REMARK    GeneRIF: Analysis of the association of NPHS2 and ACTN4 genes
            polymorphism with nephrotic syndrome in Egyptian children.
REFERENCE   4  (bases 1 to 1870)
  AUTHORS   Dorison,A., Ghobrial,I., Graham,A., Peiris,T., Forbes,T.A., See,M.,
            Das,M., Saleem,M.A., Quinlan,C., Lawlor,K.T., Ramialison,M.,
            Howden,S.E. and Little,M.H.
  TITLE     Kidney Organoids Generated Using an Allelic Series of NPHS2 Point
            Variants Reveal Distinct Intracellular Podocin Mistrafficking
  JOURNAL   J Am Soc Nephrol 34 (1), 88-109 (2023)
   PUBMED   36167728
  REMARK    GeneRIF: Kidney Organoids Generated Using an Allelic Series of
            NPHS2 Point Variants Reveal Distinct Intracellular Podocin
            Mistrafficking.
REFERENCE   5  (bases 1 to 1870)
  AUTHORS   Volker,L.A., Schurek,E.M., Rinschen,M.M., Tax,J., Schutte,B.A.,
            Lamkemeyer,T., Ungrue,D., Schermer,B., Benzing,T. and Hohne,M.
  TITLE     Characterization of a short isoform of the kidney protein podocin
            in human kidney
  JOURNAL   BMC Nephrol 14, 102 (2013)
   PUBMED   23648087
  REMARK    GeneRIF: A second short isoform of podocin was found to be
            expressed in the kidney.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1870)
  AUTHORS   Caridi,G., Bertelli,R., Carrea,A., Di Duca,M., Catarsi,P.,
            Artero,M., Carraro,M., Zennaro,C., Candiano,G., Musante,L.,
            Seri,M., Ginevri,F., Perfumo,F. and Ghiggeri,G.M.
  TITLE     Prevalence, genetics, and clinical features of patients carrying
            podocin mutations in steroid-resistant nonfamilial focal segmental
            glomerulosclerosis
  JOURNAL   J Am Soc Nephrol 12 (12), 2742-2746 (2001)
   PUBMED   11729243
  REMARK    GeneRIF: First evidence of podocin mutations in sporadic
            steroid-resistant nephrotic syndrome.
REFERENCE   7  (bases 1 to 1870)
  AUTHORS   Huber,T.B., Kottgen,M., Schilling,B., Walz,G. and Benzing,T.
  TITLE     Interaction with podocin facilitates nephrin signaling
  JOURNAL   J Biol Chem 276 (45), 41543-41546 (2001)
   PUBMED   11562357
REFERENCE   8  (bases 1 to 1870)
  AUTHORS   Wu,M.C., Wu,J.Y., Lee,C.C., Tsai,C.H. and Tsai,F.J.
  TITLE     Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2
            gene identified in Taiwan Chinese
  JOURNAL   Hum Mutat 17 (3), 237 (2001)
   PUBMED   11241850
  REMARK    GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1870)
  AUTHORS   Boute,N., Gribouval,O., Roselli,S., Benessy,F., Lee,H.,
            Fuchshuber,A., Dahan,K., Gubler,M.C., Niaudet,P. and Antignac,C.
  TITLE     NPHS2, encoding the glomerular protein podocin, is mutated in
            autosomal recessive steroid-resistant nephrotic syndrome
  JOURNAL   Nat Genet 24 (4), 349-354 (2000)
   PUBMED   10742096
  REMARK    Erratum:[Nat Genet 2000 May;25(1):125]
REFERENCE   10 (bases 1 to 1870)
  AUTHORS   Fuchshuber,A., Jean,G., Gribouval,O., Gubler,M.C., Broyer,M.,
            Beckmann,J.S., Niaudet,P. and Antignac,C.
  TITLE     Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic
            nephrotic syndrome confirms a distinct entity of autosomal
            recessive nephrosis
  JOURNAL   Hum Mol Genet 4 (11), 2155-2158 (1995)
   PUBMED   8589695
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC029141.1, AL160286.16,
            AJ279254.1 and BX095913.1.
            
            On Aug 31, 2019 this sequence version replaced NM_014625.3.
            
            Summary: This gene encodes a protein that plays a role in the
            regulation of glomerular permeability. Mutations in this gene cause
            steroid-resistant nephrotic syndrome. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ279254.1, DRR138523.300158.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA1970526 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367615.9/ ENSP00000356587.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-185               BC029141.1         5-189
            186-186             AL160286.16        107109-107109       c
            187-1037            AJ279254.1         172-1022
            1038-1121           BC029141.1         838-921
            1122-1289           AJ279254.1         1107-1274
            1290-1392           BC029141.1         1090-1192
            1393-1724           BX095913.1         153-484
            1725-1868           AJ279254.1         1710-1853
            1869-1870           BC029141.1         1669-1670
FEATURES             Location/Qualifiers
     source          1..1870
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.2"
     gene            1..1870
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /note="NPHS2 stomatin family member, podocin"
                     /db_xref="GeneID:7827"
                     /db_xref="HGNC:HGNC:13394"
                     /db_xref="MIM:604766"
     exon            1..358
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..1236
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nephrosis 2, idiopathic, steroid-resistant (podocin);
                     NPHS2, podocin"
                     /codon_start=1
                     /product="podocin isoform 1"
                     /protein_id="NP_055440.1"
                     /db_xref="CCDS:CCDS1331.1"
                     /db_xref="GeneID:7827"
                     /db_xref="HGNC:HGNC:13394"
                     /db_xref="MIM:604766"
                     /translation="MERRARSSSRESRGRGGRTPHKENKRAKAERSGGGRGRQEAGPE
                     PSGSGRAGTPGEPRAPAATVVDVDEVRGSGEEGTEVVALLESERPEEGTKSSGLGACE
                     WLLVLISLLFIIMTFPFSIWFCVKVVQEYERVIIFRLGHLLPGRAKGPGLFFFLPCLD
                     TYHKVDLRLQTLEIPFHEIVTKDMFIMEIDAICYYRMENASLLLSSLAHVSKAVQFLV
                     QTTMKRLLAHRSLTEILLERKSIAQDAKVALDSVTCIWGIKVERIEIKDVRLPAGLQH
                     SLAVEAEAQRQAKVRMIAAEAEKAASESLRMAAEILSGTPAAVQLRYLHTLQSLSTEK
                     PSTVVLPLPFDLLNCLSSPSNRTQGSLPFPSPSKPVEPLNPKKKDSPML"
     exon            359..462
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /inference="alignment:Splign:2.1.0"
     exon            463..535
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /inference="alignment:Splign:2.1.0"
     exon            536..618
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /inference="alignment:Splign:2.1.0"
     exon            619..822
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /inference="alignment:Splign:2.1.0"
     exon            823..878
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /inference="alignment:Splign:2.1.0"
     exon            879..957
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1870
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1851..1856
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /note="hexamer: ATTAAA"
     polyA_site      1870
                     /gene="NPHS2"
                     /gene_synonym="PDCN; SRN1"
                     /note="major polyA site"
ORIGIN      
        1 gacccgcagc gactccacag ggactgcgct cccgtgcccc tagcgctccc gcgctgctgc
       61 tccagccgcc cggcagctct gaggatggag aggagggcgc ggagctcctc cagggagtcc
      121 cgcgggcgag gcggcaggac tccgcacaag gagaacaaga gggcaaaggc cgagaggagc
      181 ggcggaggcc gcgggcgcca ggaggctggg cccgagccgt cgggctccgg acgggcgggg
      241 accccggggg agccccgagc gcccgccgcc acggtggtgg acgtggatga ggtccgaggc
      301 tccggcgagg agggcaccga ggtggtggcg ctgttggaga gcgagcggcc cgaggaaggt
      361 accaaatcct ccggcttagg ggcctgtgag tggcttcttg tcctcatttc cctgctcttc
      421 atcatcatga ccttcccttt ttccatctgg ttctgcgtaa aggttgtaca agagtatgaa
      481 agagtaatta tattccgact gggacatctg cttcctggaa gagccaaagg ccctggtctt
      541 ttcttttttt tgccctgcct ggatacctac cacaaggttg accttcgtct ccaaactctg
      601 gagatacctt ttcatgagat cgtgaccaaa gacatgttta taatggagat agatgccatt
      661 tgctactacc gaatggaaaa tgcctctctt ctcctaagca gtcttgctca tgtatctaaa
      721 gctgtgcaat tccttgtgca aaccactatg aagcgtctcc tagcacatcg atccctcact
      781 gaaattcttc tagagaggaa gagcatcgcc caagatgcaa aggttgcctt ggattcagtg
      841 acctgtattt ggggaatcaa agtggagaga atagaaatta aagatgtgag gttgccagct
      901 gggcttcagc actcactggc tgtggaggct gaagcgcaaa gacaagccaa agtgcggatg
      961 attgctgcag aagcggaaaa ggctgcttct gagtccctga ggatggcagc tgagattctg
     1021 tcaggcaccc ctgctgccgt tcagcttcga tacctccaca cccttcagtc tctgtccaca
     1081 gagaagcctt ccactgtggt tttacctttg ccatttgacc tactgaattg cctgtcttct
     1141 cccagcaaca gaactcaggg aagcctcccc ttcccaagtc cttccaaacc tgttgagcca
     1201 ctaaatccta aaaagaaaga ctctcccatg ttataggaag gatggggcat aatgtgactg
     1261 taaaggggcc tgccatagaa aagtcacatg cctgagggag acactctgtc ctcattccct
     1321 gcccttcctt tggttgccat atggaatggc catggaatgc acgaagtcac aatgcaccat
     1381 ccatgagaag acggtgaaat gatgtaatga cagagaaggc agacaacatg tttccgtgac
     1441 tcatctagtc agagcaatta tgggaaacag ctttggtcaa cattctactt tggaaagaat
     1501 tttgagtcta gatgtggtta aattttgact tctgggaact tggttcagat gtccctttca
     1561 ctgtatgtcc tctgacccct ttggcaaggt tgccacagct cccacagccc ttcctacaag
     1621 cacctatcat tgggcttgtc acactctatt gctcttctgt cccaaagatg cagtcttctc
     1681 tccaatgata ctaccaagtc ttagttttcc tcaaccacac tcaatctttt tgctccaccc
     1741 tgaattcctc acacctaacc ctgatagtta cctaaagtga cacttaaatg tttcagagtg
     1801 aatgcaaaaa agagagatgt acttggagtc ggatatacaa tttatcccta attaaagcat
     1861 ttaaaaggaa
//
