LOCUS       NM_000266               2058 bp    mRNA    linear   PRI 11-MAY-2013
DEFINITION  Homo sapiens Norrie disease (pseudoglioma) (NDP), mRNA.
ACCESSION   NM_000266
VERSION     NM_000266.3  GI:223671892
KEYWORDS    RefSeq.
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 2058)
  AUTHORS   Ohlmann,A., Merkl,R. and Tamm,E.R.
  TITLE     Focus on molecules: Norrin
  JOURNAL   Exp. Eye Res. 102, 109-110 (2012)
   PUBMED   21736877
REFERENCE   2  (bases 1 to 2058)
  AUTHORS   Yang,H., Li,S., Xiao,X., Guo,X. and Zhang,Q.
  TITLE     Screening for NDP mutations in 44 unrelated patients with familial
            exudative vitreoretinopathy or Norrie disease
  JOURNAL   Curr. Eye Res. 37 (8), 726-729 (2012)
   PUBMED   22563645
  REMARK    GeneRIF: NDP mutations are common cause of Norrie disease but might
            be rare cause for familial exudative vitreoretinopathy (FEVR) in
            Chinese.
REFERENCE   3  (bases 1 to 2058)
  AUTHORS   Braunger,B.M. and Tamm,E.R.
  TITLE     The different functions of Norrin
  JOURNAL   Adv. Exp. Med. Biol. 723, 679-683 (2012)
   PUBMED   22183393
  REMARK    GeneRIF: Norrin has a neuroprotective role for retinal neurons
            independent from its role on the growth of retinal capillaries.
            Review article
REFERENCE   4  (bases 1 to 2058)
  AUTHORS   Liu,D., Hu,Z., Peng,Y., Yu,C., Liu,Y., Mo,X., Li,X., Lu,L., Xu,X.,
            Su,W., Pan,Q. and Xia,K.
  TITLE     A novel nonsense mutation in the NDP gene in a Chinese family with
            Norrie disease
  JOURNAL   Mol. Vis. 16, 2653-2658 (2010)
   PUBMED   21179243
  REMARK    GeneRIF: Mutation screening of the NDP gene identified a novel
            nonsense mutation, c.343C>T.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2058)
  AUTHORS   Perez-Vilar,J. and Hill,R.L.
  TITLE     Norrie disease protein (norrin) forms disulfide-linked oligomers
            associated with the extracellular matrix
  JOURNAL   J. Biol. Chem. 272 (52), 33410-33415 (1997)
   PUBMED   9407136
REFERENCE   6  (bases 1 to 2058)
  AUTHORS   Meitinger,T., Meindl,A., Bork,P., Rost,B., Sander,C., Haasemann,M.
            and Murken,J.
  TITLE     Molecular modelling of the Norrie disease protein predicts a
            cystine knot growth factor tertiary structure
  JOURNAL   Nat. Genet. 5 (4), 376-380 (1993)
   PUBMED   8298646
REFERENCE   7  (bases 1 to 2058)
  AUTHORS   Meindl,A., Berger,W., Meitinger,T., van de Pol,D., Achatz,H.,
            Dorner,C., Haasemann,M., Hellebrand,H., Gal,A., Cremers,F. et al.
  TITLE     Norrie disease is caused by mutations in an extracellular protein
            resembling C-terminal globular domain of mucins
  JOURNAL   Nat. Genet. 2 (2), 139-143 (1992)
   PUBMED   1303264
REFERENCE   8  (bases 1 to 2058)
  AUTHORS   Berger,W., Meindl,A., van de Pol,T.J., Cremers,F.P., Ropers,H.H.,
            Doerner,C., Monaco,A., Bergen,A.A., Lebo,R., Warburgh,M. et al.
  TITLE     Isolation of a candidate gene for Norrie disease by positional
            cloning
  JOURNAL   Nat. Genet. 2 (1), 84 (1992)
   PUBMED   1303256
  REMARK    Correction to:[Nat Genet. 1992 Jun;1(3):199-203. PMID: 1303235]
REFERENCE   9  (bases 1 to 2058)
  AUTHORS   Chen,Z.Y., Hendriks,R.W., Jobling,M.A., Powell,J.F.,
            Breakefield,X.O., Sims,K.B. and Craig,I.W.
  TITLE     Isolation and characterization of a candidate gene for Norrie
            disease
  JOURNAL   Nat. Genet. 1 (3), 204-208 (1992)
   PUBMED   1303236
REFERENCE   10 (bases 1 to 2058)
  AUTHORS   Berger,W., Meindl,A., van de Pol,T.J., Cremers,F.P., Ropers,H.H.,
            Doerner,C., Monaco,A., Bergen,A.A., Lebo,R., Warburg,M. et al.
  TITLE     Isolation of a candidate gene for Norrie disease by positional
            cloning
  JOURNAL   Nat. Genet. 1 (3), 199-203 (1992)
   PUBMED   1303235
  REMARK    Erratum:[Nat Genet. 1992 Sep;2(1):84. PMID: 1303256]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA714180.1, X65882.1 and
            BC029901.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 18, 2009 this sequence version replaced gi:156713445.
            
            Summary: This gene encodes a secreted protein with a cystein-knot
            motif that activates the Wnt/beta-catenin pathway. The protein
            forms disulfide-linked oligomers in the extracellular matrix.
            Mutations in this gene result in Norrie disease and X-linked
            exudative vitreoretinopathy. [provided by RefSeq, Feb 2009].
            
            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 :: X65724.1, AL541183.3 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025098 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-171               DA714180.1         1-171
            172-1838            X65882.1           1-1667
            1839-2058           BC029901.1         1276-1495
FEATURES             Location/Qualifiers
     source          1..2058
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.4"
     gene            1..2058
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="Norrie disease (pseudoglioma)"
                     /db_xref="GeneID:4693"
                     /db_xref="HGNC:7678"
                     /db_xref="HPRD:02404"
                     /db_xref="MIM:300658"
     exon            1..372
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /inference="alignment:Splign:1.39.8"
     STS             263..978
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /standard_name="GDB:607687"
                     /db_xref="UniSTS:158265"
     exon            373..753
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    502..504
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="upstream in-frame stop codon"
     CDS             580..981
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="norrin; norrie disease protein; X-linked exudative
                     vitreoretinopathy 2 protein"
                     /codon_start=1
                     /product="norrin precursor"
                     /protein_id="NP_000257.1"
                     /db_xref="GI:4557789"
                     /db_xref="CCDS:CCDS14262.1"
                     /db_xref="GeneID:4693"
                     /db_xref="HGNC:7678"
                     /db_xref="HPRD:02404"
                     /db_xref="MIM:300658"
                     /translation="MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHY
                     VDSISHPLYKCSSKMVLLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSK
                     LKALRLRCSGGMRLTATYRYILSCHCEECNS"
     sig_peptide     580..651
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     652..978
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /product="norrin"
     exon            754..2004
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /inference="alignment:Splign:1.39.8"
     STS             1206..1442
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /standard_name="GDB:607670"
                     /db_xref="UniSTS:158260"
     STS             1214..1542
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /standard_name="SHGC-12355"
                     /db_xref="UniSTS:64918"
     STS             1623..1949
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /standard_name="GDB:607683"
                     /db_xref="UniSTS:158264"
     STS             1623..1740
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /standard_name="GDB:607667"
                     /db_xref="UniSTS:158259"
     STS             1722..1856
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /standard_name="STS-X65724"
                     /db_xref="UniSTS:71366"
     polyA_signal    1983..1988
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
     polyA_site      2004
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
ORIGIN      
        1 aagatgctcc gtggaaggga gccgagcggt gggcagaggc tgagtccccg ataacgagcg
       61 cctcacattt ccgtggcatt cccatttgct agtgcgctgc tgcggccgca cgcctgattg
      121 atatatgact gcaatggcac ttttccattt gacattctct ctctctctct ccctctctct
      181 ctctccctct ctctctccct ctctctctct ccctgtgtcg cttaaacaac agtcctaact
      241 tttgtgtgtt gcaaatataa aaggcaagcc atgtgacaga gggacagaag aacaaaagca
      301 tttggaagta acaggacctc tttctagctc tcagaaaagt ctgagaagaa aggagccctg
      361 cgttccccta agctgtgcag cagatactgt gatgatggat tgcaagtgca aagagtaaga
      421 caaaactcca gcacataaag gacaatgaca accagaaagc ttcagcccga tcctgccctt
      481 tccttgaacg ggactggatc ctaggaggtg aagccatttc caattttttg tcctctgcct
      541 ccctctgctg ttcttctaga gaagtttttc cttacaacaa tgagaaaaca tgtactagct
      601 gcatcctttt ctatgctctc cctgctggtg ataatgggag atacagacag taaaacggac
      661 agctcattca taatggactc ggaccctcga cgctgcatga ggcaccacta tgtggattct
      721 atcagtcacc cattgtacaa gtgtagctca aagatggtgc tcctggccag gtgcgagggg
      781 cactgcagcc aggcgtcacg ctccgagcct ttggtgtcgt tcagcactgt cctcaagcaa
      841 cccttccgtt cctcctgtca ctgctgccgg ccccagactt ccaagctgaa ggcactgcgg
      901 ctgcgatgct cagggggcat gcgactcact gccacctacc ggtacatcct ctcctgtcac
      961 tgcgaggaat gcaattcctg aggcccgctg ctgtgtgtgg cttctggatg ggacaactgt
     1021 agaggcagtt cgaccagcca gggaaagact ggcaagaaaa gagttaaggc aaaaaaggat
     1081 gcaacaattc tcccgggact ctgcatattc tagtaataaa gactctacat gcttgttgac
     1141 agagagagat actctgggaa cttctttgca gttcccatct cctttctctg gtacaatttc
     1201 ttttggttca ttttcagatt caggcatttt cccccttggc tctcaatgct gtttgggttt
     1261 ccaacaattc agcattagtg ggaaaaagtg ggccctcata cacaagcgtg tcaggctgtc
     1321 agtgtttggt gcacgctggg gaagaattta ctttggaaag tagaaaagcc cagcttttcc
     1381 tgggacatct tctgttattg ttgatgtttt tttttacctt gtcattttgg tctaaggttg
     1441 ccattgctgc taaaggttac cgatttcaaa gtccagatac caagcatgtg gatatgttta
     1501 gctacgttta ctcacagcca gcgaactgac attaaaataa ctaacaaaca gattctttta
     1561 tgtgatgctg gaactcttga cagctataat tattattcag aaatgacttt ttgaaagtaa
     1621 aagcagcata aagaatttgt cacaggaagg ctgtctcaga taaattatgg taaaattttg
     1681 taagggagca gacttttaaa gacttgcaca aatacggatc ctgcactgac tctggaaaag
     1741 gcatatatgt actagtggca tggagaatgc accatactca tgcatgcaaa ttagacaacc
     1801 aagtatgaat ctatttgtgg gtgtgctata gctttagccg tgtcacgggc atcattctct
     1861 aatatccact tgtccatgtg aaacatgttg ccaaaatggt ggcctggctt gtcttctgaa
     1921 cgtttggttc aaatgtgttt tggtcctgga ggctcaaatt ttgagttatt cccacgtttt
     1981 gaaataaaaa gagtatattc aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     2041 aaaaaaaaaa aaaaaaaa
//

