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

//