LOCUS       NM_000266               1719 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens norrin cystine knot growth factor NDP (NDP), mRNA.
ACCESSION   NM_000266
VERSION     NM_000266.4
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 1719)
  AUTHORS   Liu,M., Dai,E., Yang,M., Li,S., Fan,L., Liu,Y., Xiao,H., Zhao,P.
            and Yang,Z.
  TITLE     Investigating the Impact of Dimer Interface Mutations on Norrin's
            Secretion and Norrin/beta-Catenin Pathway Activation
  JOURNAL   Invest Ophthalmol Vis Sci 65 (3), 31 (2024)
   PUBMED   38517429
  REMARK    GeneRIF: Investigating the Impact of Dimer Interface Mutations on
            Norrin's Secretion and Norrin/beta-Catenin Pathway Activation.
REFERENCE   2  (bases 1 to 1719)
  AUTHORS   Jiang,K., Wang,S., Sun,H., Peng,C., Li,N., Li,S., Gao,R. and
            Zhang,J.
  TITLE     Novel mutation in the NDP gene associated with Norrie disease in a
            Chinese pedigree
  JOURNAL   Mol Genet Genomic Med 12 (1), e2345 (2024)
   PUBMED   38146894
  REMARK    GeneRIF: Novel mutation in the NDP gene associated with Norrie
            disease in a Chinese pedigree.
REFERENCE   3  (bases 1 to 1719)
  AUTHORS   Trang,D.T., Phu,N.M., Hung,D.M., Nhung,V.P., Ha,N.N.,
            Thuong,M.T.H., Ngoc,T.T.B., Hiep,N.X., Ton,N.D., Hai,N.V. and
            Ha,N.H.
  TITLE     Whole exome sequencing revealed novel pathogenic variants in
            Vietnamese patients with FEVR
  JOURNAL   Mol Vis 28, 480-491 (2022)
   PUBMED   37089697
  REMARK    GeneRIF: Whole exome sequencing revealed novel pathogenic variants
            in Vietnamese patients with FEVR.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1719)
  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   5  (bases 1 to 1719)
  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   6  (bases 1 to 1719)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   7  (bases 1 to 1719)
  AUTHORS   Scruggs,B.A., Reding,M.Q. and Schimmenti,L.A.
  TITLE     NDP-Related Retinopathies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301506
REFERENCE   8  (bases 1 to 1719)
  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. doi:
            10.1038/ng0692-199.. PMID: 1303235]
REFERENCE   9  (bases 1 to 1719)
  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 1719)
  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. doi: 10.1038/ng0992-84a..
            PMID: 1303256]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X65882.1 and BC029901.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000266.3.
            
            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 :: SRR3476690.1017256.1,
                                           SRR3476690.582694.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153427, SAMEA2155371
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642620.1/ ENSP00000495972.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1553              X65882.1           115-1667
            1554-1719           BC029901.1         1276-1441
FEATURES             Location/Qualifiers
     source          1..1719
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3"
     gene            1..1719
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="norrin cystine knot growth factor NDP"
                     /db_xref="GeneID:4693"
                     /db_xref="HGNC:HGNC:7678"
                     /db_xref="MIM:300658"
     exon            1..87
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /inference="alignment:Splign:2.1.0"
     exon            88..468
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /inference="alignment:Splign:2.1.0"
     CDS             295..696
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="norrin; Norrie disease (pseudoglioma); norrie
                     disease protein; X-linked exudative vitreoretinopathy 2
                     protein; NDP, norrin cystine knot growth factor"
                     /codon_start=1
                     /product="norrin precursor"
                     /protein_id="NP_000257.1"
                     /db_xref="CCDS:CCDS14262.1"
                     /db_xref="GeneID:4693"
                     /db_xref="HGNC:HGNC:7678"
                     /db_xref="MIM:300658"
                     /translation="MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHY
                     VDSISHPLYKCSSKMVLLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSK
                     LKALRLRCSGGMRLTATYRYILSCHCEECNS"
     exon            469..1719
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1698..1703
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="hexamer: AATAAA"
     polyA_site      1719
                     /gene="NDP"
                     /gene_synonym="EVR2; FEVR; ND"
                     /note="major polyA site"
ORIGIN      
        1 agaagaacaa aagcatttgg aagtaacagg acctctttct agctctcaga aaagtctgag
       61 aagaaaggag ccctgcgttc ccctaagctg tgcagcagat actgtgatga tggattgcaa
      121 gtgcaaagag taagacaaaa ctccagcaca taaaggacaa tgacaaccag aaagcttcag
      181 cccgatcctg ccctttcctt gaacgggact ggatcctagg aggtgaagcc atttccaatt
      241 ttttgtcctc tgcctccctc tgctgttctt ctagagaagt ttttccttac aacaatgaga
      301 aaacatgtac tagctgcatc cttttctatg ctctccctgc tggtgataat gggagataca
      361 gacagtaaaa cggacagctc attcataatg gactcggacc ctcgacgctg catgaggcac
      421 cactatgtgg attctatcag tcacccattg tacaagtgta gctcaaagat ggtgctcctg
      481 gccaggtgcg aggggcactg cagccaggcg tcacgctccg agcctttggt gtcgttcagc
      541 actgtcctca agcaaccctt ccgttcctcc tgtcactgct gccggcccca gacttccaag
      601 ctgaaggcac tgcggctgcg atgctcaggg ggcatgcgac tcactgccac ctaccggtac
      661 atcctctcct gtcactgcga ggaatgcaat tcctgaggcc cgctgctgtg tgtggcttct
      721 ggatgggaca actgtagagg cagttcgacc agccagggaa agactggcaa gaaaagagtt
      781 aaggcaaaaa aggatgcaac aattctcccg ggactctgca tattctagta ataaagactc
      841 tacatgcttg ttgacagaga gagatactct gggaacttct ttgcagttcc catctccttt
      901 ctctggtaca atttcttttg gttcattttc agattcaggc attttccccc ttggctctca
      961 atgctgtttg ggtttccaac aattcagcat tagtgggaaa aagtgggccc tcatacacaa
     1021 gcgtgtcagg ctgtcagtgt ttggtgcacg ctggggaaga atttactttg gaaagtagaa
     1081 aagcccagct tttcctggga catcttctgt tattgttgat gttttttttt accttgtcat
     1141 tttggtctaa ggttgccatt gctgctaaag gttaccgatt tcaaagtcca gataccaagc
     1201 atgtggatat gtttagctac gtttactcac agccagcgaa ctgacattaa aataactaac
     1261 aaacagattc ttttatgtga tgctggaact cttgacagct ataattatta ttcagaaatg
     1321 actttttgaa agtaaaagca gcataaagaa tttgtcacag gaaggctgtc tcagataaat
     1381 tatggtaaaa ttttgtaagg gagcagactt ttaaagactt gcacaaatac ggatcctgca
     1441 ctgactctgg aaaaggcata tatgtactag tggcatggag aatgcaccat actcatgcat
     1501 gcaaattaga caaccaagta tgaatctatt tgtgggtgtg ctatagcttt agccgtgtca
     1561 cgggcatcat tctctaatat ccacttgtcc atgtgaaaca tgttgccaaa atggtggcct
     1621 ggcttgtctt ctgaacgttt ggttcaaatg tgttttggtc ctggaggctc aaattttgag
     1681 ttattcccac gttttgaaat aaaaagagta tattcaaaa
//
