2024-03-29 14:27:20, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_025008 2897 bp mRNA linear PRI 24-JUN-2013 DEFINITION Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 2, mRNA. ACCESSION NM_025008 VERSION NM_025008.3 GI:83281434 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 2897) AUTHORS Sharifi,Y., Tjon-Fo-Sang,M.J., Cruysberg,J.R. and Maat-Kievit,A.J. TITLE Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene JOURNAL Br J Ophthalmol 97 (5), 583-587 (2013) PUBMED 23426735 REMARK GeneRIF: Patients from a family with ectopia lentis et pupillae (ELP) in four generations have autosomal recessive ELP caused by novel mutations in ADAMTSL4. REFERENCE 2 (bases 1 to 2897) AUTHORS Chandra,A., Aragon-Martin,J.A., Hughes,K., Gati,S., Reddy,M.A., Deshpande,C., Cormack,G., Child,A.H., Charteris,D.G. and Arno,G. TITLE A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis JOURNAL Invest. Ophthalmol. Vis. Sci. 53 (8), 4889-4896 (2012) PUBMED 22736615 REMARK GeneRIF: Mutations in ADAMTSL4 appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length. Publication Status: Online-Only REFERENCE 3 (bases 1 to 2897) AUTHORS Gabriel,L.A., Wang,L.W., Bader,H., Ho,J.C., Majors,A.K., Hollyfield,J.G., Traboulsi,E.I. and Apte,S.S. TITLE ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis JOURNAL Invest. Ophthalmol. Vis. Sci. 53 (1), 461-469 (2012) PUBMED 21989719 REMARK GeneRIF: Enhanced fibrillin-1 deposition in the presence of ADAMTSL4 and colocalization of ADAMTSL4 with fibrillin-1 in the ECM of cultured fibroblasts suggest a potential role for ADAMTSL4 in the formation or maintenance of the zonule. Publication Status: Online-Only REFERENCE 4 (bases 1 to 2897) AUTHORS Neuhann,T.M., Artelt,J., Neuhann,T.F., Tinschert,S. and Rump,A. TITLE A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation JOURNAL Invest. Ophthalmol. Vis. Sci. 52 (2), 695-700 (2011) PUBMED 21051722 REMARK GeneRIF: The results emphasize the association of ADAMTSL4 null mutations with isolated ectopia lentis and the presence of a founder mutation in the European population. Publication Status: Online-Only REFERENCE 5 (bases 1 to 2897) AUTHORS Christensen,A.E., Fiskerstrand,T., Knappskog,P.M., Boman,H. and Rodahl,E. TITLE A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae JOURNAL Invest. Ophthalmol. Vis. Sci. 51 (12), 6369-6373 (2010) PUBMED 20702823 REMARK GeneRIF: Ectopia lentis et pupillae is associated with a number of malformations primarily in the anterior segment of the eye. REFERENCE 6 (bases 1 to 2897) AUTHORS Liu,J., Guo,Q., Chen,B., Yu,Y., Lu,H. and Li,Y.Y. TITLE Cathepsin B and its interacting proteins, bikunin and TSRC1, correlate with TNF-induced apoptosis of ovarian cancer cells OV-90 JOURNAL FEBS Lett. 580 (1), 245-250 (2006) PUBMED 16364318 REFERENCE 7 (bases 1 to 2897) AUTHORS Liu,T., Qian,W.J., Gritsenko,M.A., Camp,D.G. II, Monroe,M.E., Moore,R.J. and Smith,R.D. TITLE Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry JOURNAL J. Proteome Res. 4 (6), 2070-2080 (2005) PUBMED 16335952 REFERENCE 8 (bases 1 to 2897) AUTHORS Wan,D., Gong,Y., Qin,W., Zhang,P., Li,J., Wei,L., Zhou,X., Li,H., Qiu,X., Zhong,F., He,L., Yu,J., Yao,G., Jiang,H., Qian,L., Yu,Y., Shu,H., Chen,X., Xu,H., Guo,M., Pan,Z., Chen,Y., Ge,C., Yang,S. and Gu,J. TITLE Large-scale cDNA transfection screening for genes related to cancer development and progression JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (44), 15724-15729 (2004) PUBMED 15498874 REMARK Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565] REFERENCE 9 (bases 1 to 2897) AUTHORS Buchner,D.A. and Meisler,M.H. TITLE TSRC1, a widely expressed gene containing seven thrombospondin type I repeats JOURNAL Gene 307, 23-30 (2003) PUBMED 12706885 REFERENCE 10 (bases 1 to 2897) AUTHORS Adams,J.C. and Tucker,R.P. TITLE The thrombospondin type 1 repeat (TSR) superfamily: diverse proteins with related roles in neuronal development JOURNAL Dev. Dyn. 218 (2), 280-299 (2000) PUBMED 10842357 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL513944.3, AL356356.17, AY358122.1 and AI637480.1. On Dec 6, 2005 this sequence version replaced gi:56788358. Summary: This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) lacks several 3' exons and has an alternate 3' end, as compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, as compared to 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## CDS exon combination :: AY358122.1 [ECO:0000331] RNAseq introns :: single sample supports all introns ERS025081, ERS025083 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-4 AL513944.3 1-4 5-78 AL356356.17 76688-76761 79-133 AL356356.17 77084-77138 134-2677 AY358122.1 1-2544 2678-2863 AL356356.17 85794-85979 2864-2885 AY358122.1 2731-2752 2886-2897 AI637480.1 1-12 c FEATURES Location/Qualifiers source 1..2897 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q21.3" gene 1..2897 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /note="ADAMTS-like 4" /db_xref="GeneID:54507" /db_xref="HGNC:19706" /db_xref="MIM:610113" exon 1..78 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" exon 79..152 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 94 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:12061739" misc_feature 117..119 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /note="upstream in-frame stop codon" exon 153..256 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 159 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:150019133" variation 187 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:371833329" variation 200 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:200990322" variation 218 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:374642601" variation 223 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:367837114" variation 228 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:371209743" variation 236 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:372594537" CDS 237..2870 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /note="isoform 2 precursor is encoded by transcript variant 2; thrombospondin repeat containing 1; ADAMTS-like protein 4; ADAMTSL-4; thrombospondin repeat-containing protein 1" /codon_start=1 /product="ADAMTS-like protein 4 isoform 2 precursor" /protein_id="NP_079284.2" /db_xref="GI:56788359" /db_xref="CCDS:CCDS30852.1" /db_xref="GeneID:54507" /db_xref="HGNC:19706" /db_xref="MIM:610113" /translation="
MENWTGRPWLYLLLLLSLPQLCLDQEVLSGHSLQTPTEEGQGPEGVWGPWVQWASCSQPCGVGVQRRSRTCQLPTVQLHPSLPLPPRPPRHPEALLPRGQGPRPQTSPETLPLYRTQSRGRGGPLRGPASHLGREETQEIRAARRSRLRDPIKPGMFGYGRVPFALPLHRNRRHPRSPPRSELSLISSRGEEAIPSPTPRAEPFSANGSPQTELPPTELSVHTPSPQAEPLSPETAQTEVAPRTRPAPLRHHPRAQASGTEPPSPTHSLGEGGFFRASPQPRRPSSQGWASPQVAGRRPDPFPSVPRGRGQQGQGPWGTGGTPHGPRLEPDPQHPGAWLPLLSNGPHASSLWSLFAPSSPIPRCSGESEQLRACSQAPCPPEQPDPRALQCAAFNSQEFMGQLYQWEPFTEVQGSQRCELNCRPRGFRFYVRHTEKVQDGTLCQPGAPDICVAGRCLSPGCDGILGSGRRPDGCGVCGGDDSTCRLVSGNLTDRGGPLGYQKILWIPAGALRLQIAQLRPSSNYLALRGPGGRSIINGNWAVDPPGSYRAGGTVFRYNRPPREEGKGESLSAEGPTTQPVDVYMIFQEENPGVFYQYVISSPPPILENPTPEPPVPQLQPEILRVEPPLAPAPRPARTPGTLQRQVRIPQMPAPPHPRTPLGSPAAYWKRVGHSACSASCGKGVWRPIFLCISRESGEELDERSCAAGARPPASPEPCHGTPCPPYWEAGEWTSCSRSCGPGTQHRQLQCRQEFGGGGSSVPPERCGHLPRPNITQSCQLRLCGHWEVGSPWSQCSVRCGRGQRSRQVRCVGNNGDEVSEQECASGPPQPPSREACDMGPCTTAWFHSDWSSKVSPEPPAISCILGNHAQDTSAFPA
" sig_peptide 237..308 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 375..>467 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /note="Thrombospondin type 1 repeats; Region: TSP1; smart00209" /db_xref="CDD:197574" misc_feature 1689..2033 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /note="ADAM-TS Spacer 1; Region: ADAM_spacer1; pfam05986" /db_xref="CDD:203365" misc_feature 2415..2585 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /note="Thrombospondin type 1 repeats; Region: TSP1; smart00209" /db_xref="CDD:197574" misc_feature 2592..2759 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /note="Thrombospondin type 1 repeats; Region: TSP1; smart00209" /db_xref="CDD:197574" variation 250 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:12754808" exon 257..314 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 262 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:367669399" variation 291 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:143132472" exon 315..670 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 323 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:202059899" variation 328 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="t" /db_xref="dbSNP:111348494" variation 366 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:41317513" variation 398 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:150631268" variation 432 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:374443010" variation 437 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:376796356" variation 468 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:147688134" variation 475 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:146377111" variation 496 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:199599791" variation 524 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:144538837" variation 528 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:148393631" variation 546 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:200120255" variation 583 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:371116559" variation 592 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:201047866" variation 618 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:150944841" variation 661 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:144397807" exon 671..1367 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 676 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:141413572" variation 682 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:200024199" variation 696 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="c" /db_xref="dbSNP:201977274" variation 704 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:201084355" variation 711 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:138212692" variation 713 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="g" /replace="t" /db_xref="dbSNP:376791448" variation 735 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:368121489" variation 743 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:143263036" variation 745 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:372319782" variation 748 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="c" /db_xref="dbSNP:373098149" variation 750 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:375564357" variation 763 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:146358482" variation 767 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:199802790" variation 792 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:201559783" variation 813 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:41317515" variation 820 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:139990606" variation 831 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:373288356" variation 834 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:149877148" variation 858 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:115104834" variation 903 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="t" /db_xref="dbSNP:147803174" variation 910 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:145240194" variation 914 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:375539424" variation 915 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="c" /db_xref="dbSNP:150189250" variation 942 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:368893787" variation 951 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:377690308" variation 971 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:199705015" variation 979 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="c" /db_xref="dbSNP:372604857" variation 984 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:140535012" variation 985 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:145673891" variation 990 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="c" /db_xref="dbSNP:142905991" variation 1000 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:377120955" variation 1003..1022 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="" /replace="aggcctctggcacagagccc" /db_xref="dbSNP:199473693" variation 1024 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:369322301" variation 1039 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:41317517" variation 1063 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:376319833" variation 1081 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:150503018" variation 1144 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:373499967" variation 1152 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:374601828" variation 1156 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:142705142" variation 1162 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:76075180" variation 1175 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:6681639" variation 1215 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:201641579" variation 1240 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:373492306" variation 1243 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:142354320" variation 1245 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:374008923" variation 1246 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:367790205" variation 1268 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:370107497" variation 1296 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:199723016" variation 1334 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:75477151" exon 1368..1470 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 1377 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:151226442" variation 1378 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:145639662" variation 1409 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:371339040" variation 1410 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:150241051" variation 1415 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:182053027" variation 1444 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:376066523" exon 1471..1607 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 1486 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:185549053" variation 1503 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:200905514" variation 1504 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:370381933" variation 1519 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:201877614" variation 1530 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:143798746" variation 1550 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:147363761" exon 1608..1812 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 1615 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:145602875" variation 1645 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:137999265" variation 1655 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:374968441" variation 1668 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:368336114" variation 1680 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:372026086" variation 1689 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:375355414" variation 1719 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:139551885" variation 1728 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:149722020" variation 1775 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:201199312" variation 1791 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:369892162" variation 1801 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:371192520" exon 1813..1985 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 1833 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:201262706" variation 1839 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="c" /db_xref="dbSNP:202041000" variation 1886 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:144197372" variation 1889 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:372837755" variation 1897 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="t" /db_xref="dbSNP:146557547" variation 1913 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:188285649" variation 1923 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:376614782" variation 1958 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:201972625" variation 1982 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:199966387" exon 1986..2097 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 1994 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="t" /db_xref="dbSNP:374198428" variation 1999 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:370547286" variation 2021 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="g" /replace="t" /db_xref="dbSNP:118203985" variation 2082 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:200684248" variation 2095 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:368100711" exon 2098..2283 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 2128 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:142312610" variation 2129 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:112045022" variation 2136 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:140528374" variation 2142 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:377046400" variation 2145 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:138536216" variation 2192 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:77184517" variation 2198 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:370147831" variation 2210 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:148221367" variation 2234 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:374312050" variation 2244 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:368482584" variation 2252 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="t" /db_xref="dbSNP:372214765" variation 2270 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:376824524" variation 2275 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:367656069" variation 2276 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:140005044" variation 2277 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:371872840" exon 2284..2413 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 2323 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:115937511" variation 2344 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:201275872" variation 2353 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:371957367" variation 2354 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:368952263" variation 2356 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:200834788" variation 2357 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:41317525" variation 2366 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="g" /replace="t" /db_xref="dbSNP:202093883" variation 2369 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:369523987" variation 2384 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:142559879" exon 2414..2618 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 2424 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="g" /replace="t" /db_xref="dbSNP:191513702" variation 2426 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:373005024" variation 2445 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:377733557" variation 2487 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:371399521" variation 2499 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="g" /replace="t" /db_xref="dbSNP:149280379" variation 2500 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="g" /replace="t" /db_xref="dbSNP:200531596" variation 2503 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:137991896" variation 2515 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:146017344" variation 2524 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:56055939" variation 2529 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:139296719" variation 2530 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:147697849" variation 2541 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:56228576" variation 2547 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:149017342" variation 2548 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:187309656" variation 2550 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:199762322" variation 2554 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:377089937" variation 2577 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:149442347" variation 2590 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:145309619" variation 2611 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:377384434" exon 2619..2893 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /inference="alignment:Splign:1.39.8" variation 2624 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:142509692" variation 2625 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:138636937" variation 2629 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:373621869" variation 2633 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:199530808" variation 2634 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:369746899" variation 2637 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:144635712" variation 2641 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:61683397" variation 2652 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:373405565" variation 2661 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:143844555" variation 2663 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:117343055" variation 2678 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:10888382" variation 2684 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:150054375" variation 2693 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:148812509" variation 2707 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:377554910" variation 2708 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:370141744" variation 2715 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:200336337" variation 2716 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:146452550" variation 2717 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:144757118" variation 2720 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:10749657" variation 2748 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:74124919" variation 2780 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:201897896" variation 2783 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="g" /db_xref="dbSNP:147256635" variation 2804 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:12049100" variation 2807 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="c" /db_xref="dbSNP:200576407" variation 2840 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:10749658" polyA_signal 2874..2879 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" variation 2886 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="c" /replace="t" /db_xref="dbSNP:375852230" variation 2892 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" /replace="a" /replace="g" /db_xref="dbSNP:370575697" polyA_site 2893 /gene="ADAMTSL4" /gene_synonym="ECTOL2; TSRC1" ORIGIN
ccgccgcggagcgaggttgcctggagagagcgcctgggcgcagaagggttaacgggccaccgggggctcgcagagcaggagggtgctctcggacggtgtgtcccccactgcactcctgaacttggaggacagggtcgccgcgagggacgcagagagcaccctccacgcccagatgcctgcgtagtttttgtgaccagtccgctcctgcctccccctggggcagtagagggggagcgatggagaactggactggcaggccctggctgtatctgctgctgcttctgtccctccctcagctctgcttggatcaggaggtgttgtccggacactctcttcagacacctacagaggagggccagggccccgaaggtgtctggggaccttgggtccagtgggcctcttgctcccagccctgcggggtgggggtgcagcgcaggagccggacatgtcagctccctacagtgcagctccacccgagtctgcccctccctccccggcccccaagacatccagaagccctcctcccccggggccagggtcccagaccccagacttctccagaaaccctccccttgtacaggacacagtctcggggaaggggtggcccacttcgaggtcccgcttcccacctagggagagaggagacccaggagattcgagcggccaggaggtcccggcttcgagaccccatcaagccaggaatgttcggttatgggagagtgccctttgcattgccactgcaccggaaccgcaggcaccctcggagcccacccagatctgagctgtccctgatctcttctagaggggaagaggctattccgtcccctactccaagagcagagccattctccgcaaacggcagcccccaaactgagctccctcccacagaactgtctgtccacaccccatccccccaagcagaacctctaagccctgaaactgctcagacagaggtggcccccagaaccaggcctgcccccctacggcatcaccccagagcccaggcctctggcacagagcccccctcacccacgcactccttaggagaaggtggcttcttccgtgcatcccctcagccacgaaggccaagttcccagggttgggccagtccccaggtagcagggagacgccctgatccttttccttcggtccctcggggccgaggccagcagggccaagggccttggggaacgggggggactcctcacgggccccgcctggagcctgaccctcagcacccgggcgcctggctgcccctgctgagcaacggcccccatgccagctccctctggagcctctttgctcccagtagccctattccaagatgttctggggagagtgaacagctaagagcctgcagccaagcgccctgcccccctgagcagccagacccccgggccctgcagtgcgcagcctttaactcccaggaattcatgggccagctgtatcagtgggagcccttcactgaagtccagggctcccagcgctgtgaactgaactgccggccccgtggcttccgcttctatgtccgtcacactgaaaaggtccaggatgggaccctgtgtcagcctggagcccctgacatctgtgtggctggacgctgtctgagccccggctgtgatgggatccttggctctggcaggcgtcctgatggctgtggagtctgtgggggtgatgattctacctgtcgccttgtttcggggaacctcactgaccgagggggccccctgggctatcagaagatcttgtggattccagcgggagccttgcggctccagattgcccagctccggcctagctccaactacctggcacttcgtggccctgggggccggtccatcatcaatgggaactgggctgtggatccccctgggtcctacagggccggcgggaccgtctttcgatataaccgtcctcccagggaggagggcaaaggggagagtctgtcggctgaaggccccaccacccagcctgtggatgtctatatgatctttcaggaggaaaacccaggcgttttttatcagtatgtcatctcttcacctcctccaatccttgagaaccccaccccagagccccctgtcccccagcttcagccggagattctgagggtggagcccccacttgctccggcaccccgcccagcccggaccccaggcaccctccagcgtcaggtgcggatcccccagatgcccgccccgccccatcccaggacacccctggggtctccagctgcgtactggaaacgagtgggacactctgcatgctcagcgtcctgcgggaaaggtgtctggcgccccattttcctctgcatctcccgtgagtcgggagaggaactggatgaacgcagctgtgccgcgggtgccaggcccccagcctcccctgaaccctgccacggcaccccatgccccccatactgggaggctggcgagtggacatcctgcagccgctcctgtggccccggcacccagcaccgccagctgcagtgccggcaggaatttggggggggtggctcctcggtgcccccggagcgctgtggacatctcccccggcccaacatcacccagtcttgccagctgcgcctctgtggccattgggaagttggctctccttggagccagtgctccgtgcggtgcggccggggccagagaagccggcaggttcgctgtgttgggaacaatggtgatgaagtgagcgagcaggagtgtgcgtcaggccccccgcagccccccagcagagaggcctgtgacatggggccctgtactactgcctggttccacagcgactggagctccaaggtgagcccggaacccccagccatatcctgcatcctgggtaaccacgcccaggacacctcagcctttccagcatagctcaataaacttgtattgatcaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:54507 -> Molecular function: GO:0002020 [protease binding] evidence: IPI GeneID:54507 -> Molecular function: GO:0004222 [metalloendopeptidase activity] evidence: IEA GeneID:54507 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:54507 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:54507 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: IEA GeneID:54507 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IDA GeneID:54507 -> Cellular component: GO:0005575 [cellular_component] evidence: ND GeneID:54507 -> Cellular component: GO:0005614 [interstitial matrix] evidence: IEA
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