NDP_HUMAN
ID NDP_HUMAN Reviewed; 133 AA.
AC Q00604; B2R8K6; Q5JYH5;
DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-1994, sequence version 1.
DT 03-AUG-2022, entry version 187.
DE RecName: Full=Norrin;
DE AltName: Full=Norrie disease protein;
DE AltName: Full=X-linked exudative vitreoretinopathy 2 protein;
DE Flags: Precursor;
GN Name=NDP; Synonyms=EVR2;
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 [MRNA].
RC TISSUE=Retina;
RX PubMed=1303235; DOI=10.1038/ng0692-199;
RA Berger W., Meindl A., van de Pol T.J.R., Cremers F.P.M., Ropers H.-H.,
RA Doerner C., Monaco A., Bergen A.A.B., Lebo R., Warburg M., Zergollern L.,
RA Lorenz B., Gal A., Bleeker-Wagemakers E.M., Meitinger T.;
RT "Isolation of a candidate gene for Norrie disease by positional cloning.";
RL Nat. Genet. 1:199-203(1992).
RN [2]
RP ERRATUM OF PUBMED:1303235.
RX PubMed=1303256; DOI=10.1038/ng0992-84a;
RA Berger W., Meindl A., van de Pol T.J.R., Cremers F.P.M., Ropers H.-H.,
RA Doerner C., Monaco A., Bergen A.A.B., Lebo R., Warburg M., Zergollern L.,
RA Lorenz B., Gal A., Bleeker-Wagemakers E.M., Meitinger T.;
RL Nat. Genet. 2:84-84(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Fetal retina;
RX PubMed=1303236; DOI=10.1038/ng0692-204;
RA Chen Z.-Y., Hendriks R.W., Jobling M.A., Powell J.F., Breakfield X.O.,
RA Sims K.B., Craig I.W.;
RT "Isolation and characterization of a candidate gene for Norrie disease.";
RL Nat. Genet. 1:204-208(1992).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [7]
RP SUBCELLULAR LOCATION, OLIGOMERIZATION, MUTAGENESIS OF CYS-95, AND
RP CHARACTERIZATION OF VARIANTS ND GLU-60 AND GLN-121.
RX PubMed=9407136; DOI=10.1074/jbc.272.52.33410;
RA Perez-Vilar J., Hill R.L.;
RT "Norrie disease protein (norrin) forms disulfide-linked oligomers
RT associated with the extracellular matrix.";
RL J. Biol. Chem. 272:33410-33415(1997).
RN [8]
RP TISSUE SPECIFICITY.
RX PubMed=10452356; DOI=10.1016/s0361-9230(99)00071-4;
RA Hartzer M.K., Cheng M., Liu X., Shastry B.S.;
RT "Localization of the Norrie disease gene mRNA by in situ hybridization.";
RL Brain Res. Bull. 49:355-358(1999).
RN [9]
RP 3D-STRUCTURE MODELING.
RX PubMed=8298646; DOI=10.1038/ng1293-376;
RA Meitinger T., Meindl A., Bork P., Rost B., Sander C., Haasemann M.,
RA Murken J.;
RT "Molecular modelling of the Norrie disease protein predicts a cystine knot
RT growth factor tertiary structure.";
RL Nat. Genet. 5:376-380(1993).
RN [10]
RP X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 30-133, DISULFIDE BONDS, AND
RP INTERACTION WITH FZD4 AND LRP6.
RX PubMed=24186977; DOI=10.1101/gad.228544.113;
RA Ke J., Harikumar K.G., Erice C., Chen C., Gu X., Wang L., Parker N.,
RA Cheng Z., Xu W., Williams B.O., Melcher K., Miller L.J., Xu H.E.;
RT "Structure and function of Norrin in assembly and activation of a Frizzled
RT 4-Lrp5/6 complex.";
RL Genes Dev. 27:2305-2319(2013).
RN [11]
RP VARIANTS ND ASN-58 AND GLN-121.
RX PubMed=8281159; DOI=10.1093/hmg/2.11.1953;
RA Fuentes J.J., Volpini V., Fernandez-Toral F., Coto E., Estivill X.;
RT "Identification of two new missense mutations (K58N and R121Q) in the
RT Norrie disease (ND) gene in two Spanish families.";
RL Hum. Mol. Genet. 2:1953-1955(1993).
RN [12]
RP VARIANT ND ARG-13.
RX PubMed=8069314; DOI=10.1093/hmg/3.4.655;
RA Fuchs S., Xu S.Y., Caballero M., Salcedo M., Lo A.L., Wedemann H., Gal A.;
RT "A missense point mutation (Leu13Arg) of the Norrie disease gene in a large
RT Cuban kindred with Norrie disease.";
RL Hum. Mol. Genet. 3:655-656(1994).
RN [13]
RP VARIANT ND ARG-39.
RX PubMed=7993212; DOI=10.1001/archopht.1994.01090240080029;
RA Joos K.M., Kimura A.E., Vandenburgh K., Bartley J.A., Stone E.M.;
RT "Ocular findings associated with a Cys39Arg mutation in the Norrie disease
RT gene.";
RL Arch. Ophthalmol. 112:1574-1579(1994).
RN [14]
RP VARIANTS ND CYS-44; GLU-60 AND TYR-96.
RX PubMed=1303264; DOI=10.1038/ng1092-139;
RA Meindl A., Berger W., Meitinger T., van de Pol D., Achatz H., Dorner C.,
RA Haasemann M., Hellebrand H., Gal A., Cremers F.P.M., Ropers H.-H.;
RT "Norrie disease is caused by mutations in an extracellular protein
RT resembling C-terminal globular domain of mucins.";
RL Nat. Genet. 2:139-143(1992).
RN [15]
RP VARIANTS ND PHE-61; CYS-74; CYS-75; PRO-90 AND TYR-96.
RX PubMed=1307245; DOI=10.1093/hmg/1.7.461;
RA Berger W., van de Pol D., Warburg M., Gal A., Bleeker-Wagemakers L.,
RA de Silva H., Meindl A., Meitinger T., Cremers F.P.M., Ropers H.-H.;
RT "Mutations in the candidate gene for Norrie disease.";
RL Hum. Mol. Genet. 1:461-465(1992).
RN [16]
RP VARIANT ND SER-69.
RX PubMed=8268931; DOI=10.1093/hmg/2.10.1727;
RA Chen Z.-Y., Battinelli E.M., Woodruff G., Young I., Breakefield X.O.,
RA Craig I.W.;
RT "Characterization of a mutation within the NDP gene in a family with a
RT manifesting female carrier.";
RL Hum. Mol. Genet. 2:1727-1729(1993).
RN [17]
RP VARIANT EVR2 PHE-124.
RX PubMed=8252044; DOI=10.1038/ng1093-180;
RA Chen Z.-Y., Battinelli E.M., Fielder A., Bundey S., Sims K.,
RA Breakefield X.O., Craig I.W.;
RT "A mutation in the Norrie disease gene (NDP) associated with X-linked
RT familial exudative vitreoretinopathy.";
RL Nat. Genet. 5:180-183(1993).
RN [18]
RP VARIANT ND ARG-95.
RX PubMed=7662640; DOI=10.1136/bjo.79.7.703;
RA Isashiki Y., Ohba N., Yanagita T., Hokita N., Hotta Y., Hayakawa M.,
RA Fujiki K., Tanabe U.;
RT "Mutations in the Norrie disease gene: a new mutation in a Japanese
RT family.";
RL Br. J. Ophthalmol. 79:703-704(1995).
RN [19]
RP VARIANTS ND PRO-61; ASP-63; TRP-65; ASN-123; 94-GLN--LEU-96 AND
RP 121-ARG--ILE-123 DEL.
RX PubMed=7627181; DOI=10.1002/humu.1380050403;
RA Schuback D.E., Chen Z.Y., Craig I.W., Breakefield X.O., Sims K.B.;
RT "Mutations in the Norrie disease gene.";
RL Hum. Mutat. 5:285-292(1995).
RN [20]
RP VARIANTS ND GLN-104; TRP-121 AND GLN-121.
RX PubMed=7795608; DOI=10.1093/hmg/4.3.489;
RA Meindl A., Lorenz B., Achatz H., Hellebrand H., Schmitz-Valckenberg P.,
RA Meitinger T.;
RT "Missense mutations in the NDP gene in patients with a less severe course
RT of Norrie disease.";
RL Hum. Mol. Genet. 4:489-490(1995).
RN [21]
RP VARIANT ND TYR-65.
RX PubMed=8589700; DOI=10.1093/hmg/4.11.2179;
RA Strasberg P., Liede H.A., Stein T., Warren I., Sutherland J., Ray P.N.;
RT "A novel mutation in the Norrie disease gene predicted to disrupt the
RT cystine knot growth factor motif.";
RL Hum. Mol. Genet. 4:2179-2180(1995).
RN [22]
RP VARIANT ND SER-126.
RX PubMed=8741107; DOI=10.1111/j.1600-0420.1996.tb00374.x;
RA Gal A., Veske A., Jojart G., Grammatico B., Huber B., Gu S., del Porto G.,
RA Senyi K.;
RT "Norrie-Warburg syndrome: two novel mutations in patients with classical
RT clinical phenotype.";
RL Acta Ophthalmol. Scand. Suppl. 219:13-16(1996).
RN [23]
RP VARIANT EVR2 LEU-121.
RX PubMed=8946107; DOI=10.1111/j.1399-0004.1996.tb02363.x;
RA Johnson K., Mintz-Hittner H.A., Conley Y.P., Ferrell R.E.;
RT "X-linked exudative vitreoretinopathy caused by an arginine to leucine
RT substitution (R121L) in the Norrie disease protein.";
RL Clin. Genet. 50:113-115(1996).
RN [24]
RP VARIANTS ND CYS-74 AND ARG-110.
RX PubMed=8807344;
RX DOI=10.1002/(sici)1098-1004(1996)8:1<85::aid-humu15>3.0.co;2-n;
RA Fuchs S., van de Pol D., Beudt U., Kellner U., Meire F., Berger W., Gal A.;
RT "Three novel and two recurrent mutations of the Norrie disease gene in
RT patients with Norrie syndrome.";
RL Hum. Mutat. 8:85-88(1996).
RN [25]
RP VARIANTS ND THR-105 AND GLY-110.
RX PubMed=9382152;
RX DOI=10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m;
RA Torrente I., Mangino M., Gennarelli M., Novelli G., Giannotti A.,
RA Vadala P., Dallapiccola B.;
RT "Two new missense mutations (A105T and C110G) in the norrin gene in two
RT Italian families with Norrie disease and familial exudative
RT vitreoretinopathy.";
RL Am. J. Med. Genet. 72:242-244(1997).
RN [26]
RP VARIANT ND PHE-101.
RX PubMed=8990009;
RX DOI=10.1002/(sici)1098-1004(1997)9:1<53::aid-humu9>3.0.co;2-q;
RA Walker J.L., Dixon J., Fenton C.R., Hungerford J., Lynch S.A.,
RA Stenhouses S.A.R., Christian A., Craig I.W.;
RT "Two new mutations in exon 3 of the NDP gene: S73X and S101F associated
RT with severe and less severe ocular phenotype, respectively.";
RL Hum. Mutat. 9:53-56(1997).
RN [27]
RP VARIANTS EVR2 LYS-41; ARG-42; ASN-58 AND CYS-120, AND VARIANT RETINOPATHY
RP OF PREMATURITY PRO-108.
RX PubMed=9143917;
RX DOI=10.1002/(sici)1098-1004(1997)9:5<396::aid-humu3>3.0.co;2-2;
RA Shastry B.S., Hejtmancik J.F., Trese M.T.;
RT "Identification of novel missense mutations in the Norrie disease gene
RT associated with one X-linked and four sporadic cases of familial exudative
RT vitreoretinopathy.";
RL Hum. Mutat. 9:396-401(1997).
RN [28]
RP VARIANT ND PHE-61.
RX PubMed=9143918;
RX DOI=10.1002/(sici)1098-1004(1997)9:5<402::aid-humu4>3.0.co;2-5;
RA Rehm H.L., Gutierrez-Espeleta G.A., Garcia R., Jimenez G., Khetarpal U.,
RA Priest J.M., Sims K.B., Keats B.J.B., Morton C.C.;
RT "Norrie disease gene mutation in a large Costa Rican kindred with a novel
RT phenotype including venous insufficiency.";
RL Hum. Mutat. 9:402-408(1997).
RN [29]
RP VARIANTS ND TYR-96 AND ASP-118.
RX PubMed=10544980; DOI=10.1177/112067219900900312;
RA Shastry B.S., Hiraoka M., Trese D.C., Trese M.T.;
RT "Norrie disease and exudative vitreoretinopathy in families with affected
RT female carriers.";
RL Eur. J. Ophthalmol. 9:238-242(1999).
RN [30]
RP VARIANT ND TRP-96.
RX PubMed=10484772; DOI=10.1093/hmg/8.11.2031;
RA Black G.C.M., Perveen R., Bonshek R., Cahill M., Clayton-Smith J.,
RA Lloyd I.C., McLeod D.;
RT "Coats' disease of the retina (unilateral retinal telangiectasis) caused by
RT somatic mutation in the NDP gene: a role for norrin in retinal
RT angiogenesis.";
RL Hum. Mol. Genet. 8:2031-2035(1999).
RN [31]
RP VARIANTS ND PRO-16 AND PRO-75.
RX PubMed=11337749;
RX DOI=10.1002/1096-8628(20010415)100:1<52::aid-ajmg1214>3.0.co;2-b;
RA Yamada K., Limprasert P., Ratanasukon M., Tengtrisorn S.,
RA Yingchareonpukdee J., Vasiknanonte P., Kitaoka T., Ghadami M., Niikawa N.,
RA Kishino T.;
RT "Two Thai families with Norrie disease (ND): association of two novel
RT missense mutations with severe ND phenotype, seizures, and a manifesting
RT carrier.";
RL Am. J. Med. Genet. 100:52-55(2001).
RN [32]
RP VARIANTS ND CYS-38; GLN-43; CYS-44; MET-45; CYS-90 AND ARG-128.
RX PubMed=14635119; DOI=10.1002/humu.9204;
RA Royer G., Hanein S., Raclin V., Gigarel N., Rozet J.-M., Munnich A.,
RA Steffann J., Dufier J.-L., Kaplan J., Bonnefont J.-P.;
RT "NDP gene mutations in 14 French families with Norrie disease.";
RL Hum. Mutat. 22:499-499(2003).
RN [33]
RP VARIANT ND PHE-95.
RX PubMed=15609522; DOI=10.3928/01913913-20041101-10;
RA Khan A.O., Shamsi F.A., Al-Saif A., Kambouris M.;
RT "A novel missense Norrie disease mutation associated with a severe ocular
RT phenotype.";
RL J. Pediatr. Ophthalmol. Strabismus 41:361-363(2004).
RN [34]
RP VARIANTS EVR2 CYS-38 AND GLN-121.
RX PubMed=16163268;
RA Riveiro-Alvarez R., Trujillo-Tiebas M.J., Gimenez-Pardo A.,
RA Garcia-Hoyos M., Cantalapiedra D., Lorda-Sanchez I., Rodriguez de Alba M.,
RA Ramos C., Ayuso C.;
RT "Genotype-phenotype variations in five Spanish families with Norrie disease
RT or X-linked FEVR.";
RL Mol. Vis. 11:705-712(2005).
RN [35]
RP VARIANT EVR2 VAL-103, AND VARIANT ND ARG-43.
RX PubMed=16970763; DOI=10.1111/j.1442-9071.2006.01314.x;
RA Dickinson J.L., Sale M.M., Passmore A., FitzGerald L.M., Wheatley C.M.,
RA Burdon K.P., Craig J.E., Tengtrisorn S., Carden S.M., Maclean H.,
RA Mackey D.A.;
RT "Mutations in the NDP gene: contribution to Norrie disease, familial
RT exudative vitreoretinopathy and retinopathy of prematurity.";
RL Clin. Exp. Ophthalmol. 34:682-688(2006).
RN [36]
RP VARIANTS ND CYS-74 AND GLU-112.
RX PubMed=15776010; DOI=10.1038/sj.eye.6701840;
RA Allen R.C., Russell S.R., Streb L.M., Alsheikheh A., Stone E.M.;
RT "Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in
RT the Norrie disease protein.";
RL Eye 20:234-241(2006).
RN [37]
RP VARIANT ND ASN-104.
RX PubMed=17128466;
RA Riveiro-Alvarez R., Trujillo M.J., Gimenez A., Cantalapiedra D.,
RA Vallespin E., Villaverde C., Ayuso C.;
RT "Gene symbol: NDP. Disease: Norrie disease.";
RL Hum. Genet. 119:675-675(2006).
RN [38]
RP VARIANT ND GLU-45.
RX PubMed=17334993; DOI=10.1002/ajmg.a.31531;
RA Lev D., Weigl Y., Hasan M., Gak E., Davidovich M., Vinkler C.,
RA Leshinsky-Silver E., Lerman-Sagie T., Watemberg N.;
RT "A novel missense mutation in the NDP gene in a child with Norrie disease
RT and severe neurological involvement including infantile spasms.";
RL Am. J. Med. Genet. A 143:921-924(2007).
RN [39]
RP VARIANTS EVR2 ARG-42; ILE-61 AND TRP-121, VARIANTS ND ARG-39 AND TYR-65,
RP AND VARIANT PERSISTENT FETAL VASCULATURE SYNDROME SER-41.
RX PubMed=17296899; DOI=10.1001/archopht.125.2.225;
RA Wu W.-C., Drenser K., Trese M., Capone A. Jr., Dailey W.;
RT "Retinal phenotype-genotype correlation of pediatric patients expressing
RT mutations in the Norrie disease gene.";
RL Arch. Ophthalmol. 125:225-230(2007).
RN [40]
RP VARIANTS EVR2 LYS-18; ASN-54 AND LEU-115, AND VARIANT ND PRO-97.
RX PubMed=17325173; DOI=10.1167/iovs.06-1042;
RA Kondo H., Qin M., Kusaka S., Tahira T., Hasebe H., Hayashi H., Uchio E.,
RA Hayashi K.;
RT "Novel mutations in Norrie disease gene in Japanese patients with Norrie
RT disease and familial exudative vitreoretinopathy.";
RL Invest. Ophthalmol. Vis. Sci. 48:1276-1282(2007).
RN [41]
RP VARIANTS ND ARG-55; ARG-67; GLU-67; LEU-89; PRO-92 AND LEU-98.
RX PubMed=20340138; DOI=10.1002/humu.21250;
RA Nikopoulos K., Venselaar H., Collin R.W.J., Riveiro-Alvarez R.,
RA Boonstra F.N., Hooymans J.M., Mukhopadhyay A., Shears D., van Bers M.,
RA de Wijs I.J., van Essen A.J., Sijmons R.H., Tilanus M.A.D.,
RA van Nouhuys C.E., Ayuso C., Hoefsloot L.H., Cremers F.P.M.;
RT "Overview of the mutation spectrum in familial exudative vitreoretinopathy
RT and Norrie disease with identification of 21 novel variants in FZD4, LRP5,
RT and NDP.";
RL Hum. Mutat. 31:656-666(2010).
RN [42]
RP VARIANT ND GLY-69.
RX PubMed=28192794; DOI=10.1167/iovs.16-20281;
RA Keser V., Khan A., Siddiqui S., Lopez I., Ren H., Qamar R., Nadaf J.,
RA Majewski J., Chen R., Koenekoop R.K.;
RT "The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A
RT Genetic and Phenotypic Study of Pakistani Families.";
RL Invest. Ophthalmol. Vis. Sci. 58:1028-1036(2017).
CC -!- FUNCTION: Activates the canonical Wnt signaling pathway through FZD4
CC and LRP5 coreceptor. Plays a central role in retinal vascularization by
CC acting as a ligand for FZD4 that signals via stabilizing beta-catenin
CC (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts
CC in concert with TSPAN12 to activate FZD4 independently of the Wnt-
CC dependent activation of FZD4, suggesting the existence of a Wnt-
CC independent signaling that also promote accumulation the beta-catenin
CC (CTNNB1). May be involved in a pathway that regulates neural cell
CC differentiation and proliferation. Possible role in neuroectodermal
CC cell-cell interaction.
CC -!- SUBUNIT: Homodimer; disulfide-linked. Component of a complex, at least
CC composed of TSPAN12, FZD4, LRP5/6 and norrin (NDP). Binds FZD4 with
CC high affinity. Interacts with LRP6 (via Beta-propellers 1 and 2).
CC {ECO:0000269|PubMed:24186977}.
CC -!- INTERACTION:
CC Q00604; Q9ULV1: FZD4; NbExp=4; IntAct=EBI-2466352, EBI-2466380;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9407136}.
CC -!- TISSUE SPECIFICITY: Expressed in the outer nuclear, inner nuclear and
CC ganglion cell layers of the retina, and in fetal and adult brain.
CC {ECO:0000269|PubMed:10452356}.
CC -!- DISEASE: Norrie disease (ND) [MIM:310600]: Recessive disorder
CC characterized by very early childhood blindness due to degenerative and
CC proliferative changes of the neuroretina. Approximately 50% of patients
CC show some form of progressive mental disorder, often with psychotic
CC features, and about one-third of patients develop sensorineural
CC deafness in the second decade. In addition, some patients have more
CC complex phenotypes, including growth failure and seizure.
CC {ECO:0000269|PubMed:10484772, ECO:0000269|PubMed:10544980,
CC ECO:0000269|PubMed:11337749, ECO:0000269|PubMed:1303264,
CC ECO:0000269|PubMed:1307245, ECO:0000269|PubMed:14635119,
CC ECO:0000269|PubMed:15609522, ECO:0000269|PubMed:15776010,
CC ECO:0000269|PubMed:16970763, ECO:0000269|PubMed:17128466,
CC ECO:0000269|PubMed:17296899, ECO:0000269|PubMed:17325173,
CC ECO:0000269|PubMed:17334993, ECO:0000269|PubMed:20340138,
CC ECO:0000269|PubMed:28192794, ECO:0000269|PubMed:7627181,
CC ECO:0000269|PubMed:7662640, ECO:0000269|PubMed:7795608,
CC ECO:0000269|PubMed:7993212, ECO:0000269|PubMed:8069314,
CC ECO:0000269|PubMed:8268931, ECO:0000269|PubMed:8281159,
CC ECO:0000269|PubMed:8589700, ECO:0000269|PubMed:8741107,
CC ECO:0000269|PubMed:8807344, ECO:0000269|PubMed:8990009,
CC ECO:0000269|PubMed:9143918, ECO:0000269|PubMed:9382152,
CC ECO:0000269|PubMed:9407136}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]: A disorder
CC of the retinal vasculature characterized by an abrupt cessation of
CC growth of peripheral capillaries, leading to an avascular peripheral
CC retina. This may lead to compensatory retinal neovascularization, which
CC is thought to be induced by hypoxia from the initial avascular insult.
CC New vessels are prone to leakage and rupture causing exudates and
CC bleeding, followed by scarring, retinal detachment and blindness.
CC Clinical features can be highly variable, even within the same family.
CC Patients with mild forms of the disease are asymptomatic, and their
CC only disease related abnormality is an arc of avascular retina in the
CC extreme temporal periphery. {ECO:0000269|PubMed:16163268,
CC ECO:0000269|PubMed:16970763, ECO:0000269|PubMed:17296899,
CC ECO:0000269|PubMed:17325173, ECO:0000269|PubMed:8252044,
CC ECO:0000269|PubMed:8946107, ECO:0000269|PubMed:9143917}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- WEB RESOURCE: Name=Mutations of the NDP gene; Note=Retina
CC International's Scientific Newsletter;
CC URL="https://www.retina-international.org/files/sci-news/ndgmut.htm";
CC ---------------------------------------------------------------------------
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DR EMBL; X65724; CAA46639.1; -; mRNA.
DR EMBL; X65882; CAA46713.1; -; mRNA.
DR EMBL; AL034370; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK313409; BAG36203.1; -; mRNA.
DR EMBL; BC029901; AAH29901.1; -; mRNA.
DR CCDS; CCDS14262.1; -.
DR PIR; A57005; A57005.
DR RefSeq; NP_000257.1; NM_000266.3.
DR PDB; 4MY2; X-ray; 2.40 A; A=30-133.
DR PDB; 5BPU; X-ray; 2.40 A; A/B/C/D/E/F=25-133.
DR PDB; 5BQ8; X-ray; 2.00 A; A/B/C/D=25-133.
DR PDB; 5BQB; X-ray; 2.30 A; A/B/C/D=25-133.
DR PDB; 5BQC; X-ray; 3.00 A; A=25-133.
DR PDB; 5BQE; X-ray; 2.30 A; A/B=25-133.
DR PDB; 5CL1; X-ray; 3.80 A; A/B=31-133.
DR PDBsum; 4MY2; -.
DR PDBsum; 5BPU; -.
DR PDBsum; 5BQ8; -.
DR PDBsum; 5BQB; -.
DR PDBsum; 5BQC; -.
DR PDBsum; 5BQE; -.
DR PDBsum; 5CL1; -.
DR AlphaFoldDB; Q00604; -.
DR SMR; Q00604; -.
DR BioGRID; 110773; 35.
DR CORUM; Q00604; -.
DR IntAct; Q00604; 4.
DR STRING; 9606.ENSP00000367301; -.
DR iPTMnet; Q00604; -.
DR PhosphoSitePlus; Q00604; -.
DR BioMuta; NDP; -.
DR DMDM; 548342; -.
DR MassIVE; Q00604; -.
DR PaxDb; Q00604; -.
DR PeptideAtlas; Q00604; -.
DR PRIDE; Q00604; -.
DR ProteomicsDB; 57861; -.
DR Antibodypedia; 514; 182 antibodies from 31 providers.
DR DNASU; 4693; -.
DR Ensembl; ENST00000642620.1; ENSP00000495972.1; ENSG00000124479.11.
DR Ensembl; ENST00000647044.1; ENSP00000495811.1; ENSG00000124479.11.
DR GeneID; 4693; -.
DR KEGG; hsa:4693; -.
DR MANE-Select; ENST00000642620.1; ENSP00000495972.1; NM_000266.4; NP_000257.1.
DR UCSC; uc004dga.5; human.
DR CTD; 4693; -.
DR DisGeNET; 4693; -.
DR GeneCards; NDP; -.
DR GeneReviews; NDP; -.
DR HGNC; HGNC:7678; NDP.
DR HPA; ENSG00000124479; Tissue enhanced (brain, ovary).
DR MalaCards; NDP; -.
DR MIM; 300658; gene.
DR MIM; 305390; phenotype.
DR MIM; 310600; phenotype.
DR neXtProt; NX_Q00604; -.
DR OpenTargets; ENSG00000124479; -.
DR Orphanet; 190; Coats disease.
DR Orphanet; 891; Familial exudative vitreoretinopathy.
DR Orphanet; 649; Norrie disease.
DR Orphanet; 91495; Persistent hyperplastic primary vitreous.
DR Orphanet; 90050; Retinopathy of prematurity.
DR PharmGKB; PA31481; -.
DR VEuPathDB; HostDB:ENSG00000124479; -.
DR eggNOG; KOG1216; Eukaryota.
DR GeneTree; ENSGT00390000004304; -.
DR HOGENOM; CLU_153977_0_0_1; -.
DR InParanoid; Q00604; -.
DR OMA; DPGRCMR; -.
DR OrthoDB; 1589857at2759; -.
DR PhylomeDB; Q00604; -.
DR PathwayCommons; Q00604; -.
DR SignaLink; Q00604; -.
DR SIGNOR; Q00604; -.
DR BioGRID-ORCS; 4693; 10 hits in 695 CRISPR screens.
DR ChiTaRS; NDP; human.
DR GeneWiki; Norrin; -.
DR GenomeRNAi; 4693; -.
DR Pharos; Q00604; Tbio.
DR PRO; PR:Q00604; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q00604; protein.
DR Bgee; ENSG00000124479; Expressed in cranial nerve II and 153 other tissues.
DR Genevisible; Q00604; HS.
DR GO; GO:0009986; C:cell surface; IDA:BHF-UCL.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; IDA:BHF-UCL.
DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
DR GO; GO:0005615; C:extracellular space; IDA:BHF-UCL.
DR GO; GO:0005125; F:cytokine activity; IDA:BHF-UCL.
DR GO; GO:0005109; F:frizzled binding; IPI:BHF-UCL.
DR GO; GO:0042803; F:protein homodimerization activity; IPI:BHF-UCL.
DR GO; GO:0046697; P:decidualization; IEA:Ensembl.
DR GO; GO:0035426; P:extracellular matrix-cell signaling; IEA:Ensembl.
DR GO; GO:0007399; P:nervous system development; TAS:ProtInc.
DR GO; GO:0110135; P:Norrin signaling pathway; IDA:BHF-UCL.
DR GO; GO:0051091; P:positive regulation of DNA-binding transcription factor activity; IEA:Ensembl.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:BHF-UCL.
DR GO; GO:0061299; P:retina vasculature morphogenesis in camera-type eye; IEA:Ensembl.
DR GO; GO:0007033; P:vacuole organization; TAS:ProtInc.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR GO; GO:0016055; P:Wnt signaling pathway; IEA:UniProtKB-KW.
DR Gene3D; 2.10.90.10; -; 1.
DR InterPro; IPR006207; Cys_knot_C.
DR InterPro; IPR029034; Cystine-knot_cytokine.
DR InterPro; IPR006208; Glyco_hormone_CN.
DR InterPro; IPR003064; Norrie_dis.
DR PANTHER; PTHR28611; PTHR28611; 1.
DR Pfam; PF00007; Cys_knot; 1.
DR PRINTS; PR01304; NORRIEDSEASE.
DR SMART; SM00041; CT; 1.
DR PROSITE; PS01185; CTCK_1; 1.
DR PROSITE; PS01225; CTCK_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Deafness; Disease variant; Disulfide bond;
KW Reference proteome; Secreted; Sensory transduction; Signal; Vision;
KW Wnt signaling pathway.
FT SIGNAL 1..24
FT /evidence="ECO:0000255"
FT CHAIN 25..133
FT /note="Norrin"
FT /id="PRO_0000021794"
FT DOMAIN 39..132
FT /note="CTCK"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00039"
FT DISULFID 39..96
FT /evidence="ECO:0000269|PubMed:24186977"
FT DISULFID 55..110
FT /evidence="ECO:0000269|PubMed:24186977"
FT DISULFID 65..126
FT /evidence="ECO:0000269|PubMed:24186977"
FT DISULFID 69..128
FT /evidence="ECO:0000269|PubMed:24186977"
FT DISULFID 93
FT /note="Interchain (with C-95)"
FT /evidence="ECO:0000269|PubMed:24186977"
FT DISULFID 95
FT /note="Interchain (with C-93)"
FT /evidence="ECO:0000269|PubMed:24186977"
FT DISULFID 131
FT /note="Interchain"
FT /evidence="ECO:0000269|PubMed:24186977"
FT VARIANT 13
FT /note="L -> R (in ND; dbSNP:rs104894879)"
FT /evidence="ECO:0000269|PubMed:8069314"
FT /id="VAR_005478"
FT VARIANT 16
FT /note="L -> P (in ND)"
FT /evidence="ECO:0000269|PubMed:11337749"
FT /id="VAR_016048"
FT VARIANT 18
FT /note="I -> K (in EVR2; the patient presented significant
FT phenotypic heterogeneity between the two eyes)"
FT /evidence="ECO:0000269|PubMed:17325173"
FT /id="VAR_063998"
FT VARIANT 23
FT /note="D -> E (in dbSNP:rs5952410)"
FT /id="VAR_034137"
FT VARIANT 38
FT /note="R -> C (in ND and EVR2; dbSNP:rs758550101)"
FT /evidence="ECO:0000269|PubMed:14635119,
FT ECO:0000269|PubMed:16163268"
FT /id="VAR_063999"
FT VARIANT 39
FT /note="C -> R (in ND)"
FT /evidence="ECO:0000269|PubMed:17296899,
FT ECO:0000269|PubMed:7993212"
FT /id="VAR_005479"
FT VARIANT 41
FT /note="R -> K (in EVR2)"
FT /evidence="ECO:0000269|PubMed:9143917"
FT /id="VAR_005480"
FT VARIANT 41
FT /note="R -> S (in persistent fetal vasculature syndrome)"
FT /evidence="ECO:0000269|PubMed:17296899"
FT /id="VAR_064000"
FT VARIANT 42
FT /note="H -> R (in EVR2; dbSNP:rs104894874)"
FT /evidence="ECO:0000269|PubMed:17296899,
FT ECO:0000269|PubMed:9143917"
FT /id="VAR_005481"
FT VARIANT 43
FT /note="H -> Q (in ND)"
FT /evidence="ECO:0000269|PubMed:14635119"
FT /id="VAR_064001"
FT VARIANT 43
FT /note="H -> R (in ND)"
FT /evidence="ECO:0000269|PubMed:16970763"
FT /id="VAR_064002"
FT VARIANT 44
FT /note="Y -> C (in ND; dbSNP:rs104894870)"
FT /evidence="ECO:0000269|PubMed:1303264,
FT ECO:0000269|PubMed:14635119"
FT /id="VAR_005482"
FT VARIANT 45
FT /note="V -> E (in ND; dbSNP:rs137852221)"
FT /evidence="ECO:0000269|PubMed:17334993"
FT /id="VAR_064003"
FT VARIANT 45
FT /note="V -> M (in ND)"
FT /evidence="ECO:0000269|PubMed:14635119"
FT /id="VAR_064004"
FT VARIANT 54
FT /note="K -> N (in EVR2)"
FT /evidence="ECO:0000269|PubMed:17325173"
FT /id="VAR_064005"
FT VARIANT 55
FT /note="C -> R (in ND)"
FT /evidence="ECO:0000269|PubMed:20340138"
FT /id="VAR_064006"
FT VARIANT 58
FT /note="K -> N (in ND and EVR2)"
FT /evidence="ECO:0000269|PubMed:8281159,
FT ECO:0000269|PubMed:9143917"
FT /id="VAR_005483"
FT VARIANT 60
FT /note="V -> E (in ND; reduction of protein amount in the
FT extracellular matrix; dbSNP:rs104894869)"
FT /evidence="ECO:0000269|PubMed:1303264,
FT ECO:0000269|PubMed:9407136"
FT /id="VAR_005484"
FT VARIANT 61
FT /note="L -> F (in ND; dbSNP:rs104894880)"
FT /evidence="ECO:0000269|PubMed:1307245,
FT ECO:0000269|PubMed:9143918"
FT /id="VAR_005485"
FT VARIANT 61
FT /note="L -> I (in EVR2)"
FT /evidence="ECO:0000269|PubMed:17296899"
FT /id="VAR_064007"
FT VARIANT 61
FT /note="L -> P (in ND)"
FT /evidence="ECO:0000269|PubMed:7627181"
FT /id="VAR_005486"
FT VARIANT 63
FT /note="A -> D (in ND)"
FT /evidence="ECO:0000269|PubMed:7627181"
FT /id="VAR_005487"
FT VARIANT 65
FT /note="C -> W (in ND)"
FT /evidence="ECO:0000269|PubMed:7627181"
FT /id="VAR_005490"
FT VARIANT 65
FT /note="C -> Y (in ND; dbSNP:rs1369490553)"
FT /evidence="ECO:0000269|PubMed:17296899,
FT ECO:0000269|PubMed:8589700"
FT /id="VAR_005488"
FT VARIANT 67
FT /note="G -> E (in ND; dbSNP:rs1460859456)"
FT /evidence="ECO:0000269|PubMed:20340138"
FT /id="VAR_064008"
FT VARIANT 67
FT /note="G -> R (in ND)"
FT /evidence="ECO:0000269|PubMed:20340138"
FT /id="VAR_064009"
FT VARIANT 69
FT /note="C -> G (in ND; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:28192794"
FT /id="VAR_085735"
FT VARIANT 69
FT /note="C -> S (in ND; unknown pathological significance;
FT dbSNP:rs104894872)"
FT /evidence="ECO:0000269|PubMed:8268931"
FT /id="VAR_005489"
FT VARIANT 74
FT /note="R -> C (in ND; dbSNP:rs727504031)"
FT /evidence="ECO:0000269|PubMed:1307245,
FT ECO:0000269|PubMed:15776010, ECO:0000269|PubMed:8807344"
FT /id="VAR_005491"
FT VARIANT 75
FT /note="S -> C (in ND; dbSNP:rs104894868)"
FT /evidence="ECO:0000269|PubMed:1307245"
FT /id="VAR_005492"
FT VARIANT 75
FT /note="S -> P (in ND)"
FT /evidence="ECO:0000269|PubMed:11337749"
FT /id="VAR_016049"
FT VARIANT 89
FT /note="F -> L (in ND; dbSNP:rs1057520333)"
FT /evidence="ECO:0000269|PubMed:20340138"
FT /id="VAR_064010"
FT VARIANT 90
FT /note="R -> C (in ND; dbSNP:rs1057518793)"
FT /evidence="ECO:0000269|PubMed:14635119"
FT /id="VAR_064011"
FT VARIANT 90
FT /note="R -> P (in ND; dbSNP:rs104894867)"
FT /evidence="ECO:0000269|PubMed:1307245"
FT /id="VAR_005494"
FT VARIANT 92
FT /note="S -> P (in ND)"
FT /evidence="ECO:0000269|PubMed:20340138"
FT /id="VAR_064012"
FT VARIANT 94..96
FT /note="HCC -> QCGL (in ND)"
FT /id="VAR_005495"
FT VARIANT 95
FT /note="C -> F (in ND)"
FT /evidence="ECO:0000269|PubMed:15609522"
FT /id="VAR_064013"
FT VARIANT 95
FT /note="C -> R (in ND)"
FT /evidence="ECO:0000269|PubMed:7662640"
FT /id="VAR_064014"
FT VARIANT 96
FT /note="C -> W (in ND; dbSNP:rs104894877)"
FT /evidence="ECO:0000269|PubMed:10484772"
FT /id="VAR_009275"
FT VARIANT 96
FT /note="C -> Y (in ND; dbSNP:rs104894871)"
FT /evidence="ECO:0000269|PubMed:10544980,
FT ECO:0000269|PubMed:1303264, ECO:0000269|PubMed:1307245"
FT /id="VAR_005496"
FT VARIANT 97
FT /note="R -> P (in ND)"
FT /evidence="ECO:0000269|PubMed:17325173"
FT /id="VAR_064015"
FT VARIANT 98
FT /note="P -> L (in ND)"
FT /evidence="ECO:0000269|PubMed:20340138"
FT /id="VAR_064016"
FT VARIANT 101
FT /note="S -> F (in ND; dbSNP:rs104894883)"
FT /evidence="ECO:0000269|PubMed:8990009"
FT /id="VAR_005497"
FT VARIANT 103
FT /note="L -> V (in EVR2)"
FT /evidence="ECO:0000269|PubMed:16970763"
FT /id="VAR_064017"
FT VARIANT 104
FT /note="K -> N (in ND)"
FT /evidence="ECO:0000269|PubMed:17128466"
FT /id="VAR_064018"
FT VARIANT 104
FT /note="K -> Q (in ND)"
FT /evidence="ECO:0000269|PubMed:7795608"
FT /id="VAR_005498"
FT VARIANT 105
FT /note="A -> T (in ND; dbSNP:rs104894875)"
FT /evidence="ECO:0000269|PubMed:9382152"
FT /id="VAR_016050"
FT VARIANT 108
FT /note="L -> P (in retinopathy of prematurity)"
FT /evidence="ECO:0000269|PubMed:9143917"
FT /id="VAR_064019"
FT VARIANT 110
FT /note="C -> G (in ND; dbSNP:rs104894876)"
FT /evidence="ECO:0000269|PubMed:9382152"
FT /id="VAR_016051"
FT VARIANT 110
FT /note="C -> R (in ND)"
FT /evidence="ECO:0000269|PubMed:8807344"
FT /id="VAR_064020"
FT VARIANT 112
FT /note="G -> E (in ND)"
FT /evidence="ECO:0000269|PubMed:15776010"
FT /id="VAR_064021"
FT VARIANT 115
FT /note="R -> L (in EVR2)"
FT /evidence="ECO:0000269|PubMed:17325173"
FT /id="VAR_064022"
FT VARIANT 118
FT /note="A -> D (in ND)"
FT /evidence="ECO:0000269|PubMed:10544980"
FT /id="VAR_064023"
FT VARIANT 120
FT /note="Y -> C (in EVR2)"
FT /evidence="ECO:0000269|PubMed:9143917"
FT /id="VAR_005499"
FT VARIANT 121..123
FT /note="Missing (in ND)"
FT /evidence="ECO:0000269|PubMed:7627181"
FT /id="VAR_005503"
FT VARIANT 121
FT /note="R -> G (in EVR2)"
FT /id="VAR_005500"
FT VARIANT 121
FT /note="R -> L (in EVR2; dbSNP:rs137852220)"
FT /evidence="ECO:0000269|PubMed:8946107"
FT /id="VAR_064024"
FT VARIANT 121
FT /note="R -> Q (in EVR2 and ND; reduced amount of protein in
FT the extracellular matrix)"
FT /evidence="ECO:0000269|PubMed:16163268,
FT ECO:0000269|PubMed:7795608, ECO:0000269|PubMed:8281159,
FT ECO:0000269|PubMed:9407136"
FT /id="VAR_005501"
FT VARIANT 121
FT /note="R -> W (in ND and EVR2; dbSNP:rs104894878)"
FT /evidence="ECO:0000269|PubMed:17296899,
FT ECO:0000269|PubMed:7795608"
FT /id="VAR_005502"
FT VARIANT 123
FT /note="I -> N (in ND)"
FT /evidence="ECO:0000269|PubMed:7627181"
FT /id="VAR_005504"
FT VARIANT 124
FT /note="L -> F (in EVR2; dbSNP:rs28933684)"
FT /evidence="ECO:0000269|PubMed:8252044"
FT /id="VAR_005505"
FT VARIANT 126
FT /note="C -> S (in ND)"
FT /evidence="ECO:0000269|PubMed:8741107"
FT /id="VAR_064025"
FT VARIANT 128
FT /note="C -> R (in ND)"
FT /evidence="ECO:0000269|PubMed:14635119"
FT /id="VAR_064026"
FT MUTAGEN 95
FT /note="C->A: Impairs oligomerization."
FT /evidence="ECO:0000269|PubMed:9407136"
FT STRAND 37..48
FT /evidence="ECO:0007829|PDB:5BQ8"
FT STRAND 51..53
FT /evidence="ECO:0007829|PDB:5BQ8"
FT STRAND 58..67
FT /evidence="ECO:0007829|PDB:5BQ8"
FT STRAND 73..77
FT /evidence="ECO:0007829|PDB:5BQ8"
FT STRAND 80..83
FT /evidence="ECO:0007829|PDB:5BQB"
FT STRAND 89..92
FT /evidence="ECO:0007829|PDB:5BQ8"
FT STRAND 94..110
FT /evidence="ECO:0007829|PDB:5BQ8"
FT TURN 111..113
FT /evidence="ECO:0007829|PDB:5BQ8"
FT STRAND 115..133
FT /evidence="ECO:0007829|PDB:5BQ8"
SQ SEQUENCE 133 AA; 15044 MW; D219E8B7F957286A CRC64;
MRKHVLAASF SMLSLLVIMG DTDSKTDSSF IMDSDPRRCM RHHYVDSISH PLYKCSSKMV
LLARCEGHCS QASRSEPLVS FSTVLKQPFR SSCHCCRPQT SKLKALRLRC SGGMRLTATY
RYILSCHCEE CNS
