2025-05-09 18:25:09, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_030583 4065 bp mRNA linear PRI 11-MAY-2013 DEFINITION Homo sapiens matrilin 2 (MATN2), transcript variant 2, mRNA. ACCESSION NM_030583 VERSION NM_030583.2 GI:62548861 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 4065) AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. CONSRTM DREAM investigators TITLE Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study JOURNAL Diabetes Care 33 (10), 2250-2253 (2010) PUBMED 20628086 REMARK GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 2 (bases 1 to 4065) AUTHORS Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D. CONSRTM ASCOT investigators; NORDIL investigators; BRIGHT Consortium TITLE Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip JOURNAL Am. J. Hum. Genet. 85 (5), 628-642 (2009) PUBMED 19913121 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (bases 1 to 4065) AUTHORS Wheeler,H.E., Metter,E.J., Tanaka,T., Absher,D., Higgins,J., Zahn,J.M., Wilhelmy,J., Davis,R.W., Singleton,A., Myers,R.M., Ferrucci,L. and Kim,S.K. TITLE Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging JOURNAL PLoS Genet. 5 (10), E1000685 (2009) PUBMED 19834535 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 4065) AUTHORS Landa,I., Ruiz-Llorente,S., Montero-Conde,C., Inglada-Perez,L., Schiavi,F., Leskela,S., Pita,G., Milne,R., Maravall,J., Ramos,I., Andia,V., Rodriguez-Poyo,P., Jara-Albarran,A., Meoro,A., del Peso,C., Arribas,L., Iglesias,P., Caballero,J., Serrano,J., Pico,A., Pomares,F., Gimenez,G., Lopez-Mondejar,P., Castello,R., Merante-Boschin,I., Pelizzo,M.R., Mauricio,D., Opocher,G., Rodriguez-Antona,C., Gonzalez-Neira,A., Matias-Guiu,X., Santisteban,P. and Robledo,M. TITLE The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors JOURNAL PLoS Genet. 5 (9), E1000637 (2009) PUBMED 19730683 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 4065) AUTHORS Szabo,E., Korpos,E., Batmunkh,E., Lotz,G., Holczbauer,A., Kovalszky,I., Deak,F., Kiss,I., Schaff,Z. and Kiss,A. TITLE Expression of matrilin-2 in liver cirrhosis and hepatocellular carcinoma JOURNAL Pathol. Oncol. Res. 14 (1), 15-22 (2008) PUBMED 18386166 REMARK GeneRIF: data indicate matrilin-2 is a novel basement membrane component in the liver, synthesized during sinusoidal 'capillarization' in cirrhosis & in hepatocellular carcinoma REFERENCE 6 (bases 1 to 4065) AUTHORS Piecha,D., Hartmann,K., Kobbe,B., Haase,I., Mauch,C., Krieg,T. and Paulsson,M. TITLE Expression of matrilin-2 in human skin JOURNAL J. Invest. Dermatol. 119 (1), 38-43 (2002) PUBMED 12164922 REMARK GeneRIF: matrilin-2 is expressed in normal skin by keratinocytes and fibroblasts and may thus contribute to cutaneous homeostasis. REFERENCE 7 (bases 1 to 4065) AUTHORS Frank,S., Schulthess,T., Landwehr,R., Lustig,A., Mini,T., Jeno,P., Engel,J. and Kammerer,R.A. TITLE Characterization of the matrilin coiled-coil domains reveals seven novel isoforms JOURNAL J. Biol. Chem. 277 (21), 19071-19079 (2002) PUBMED 11896063 REFERENCE 8 (bases 1 to 4065) AUTHORS Mates,L., Korpos,E., Deak,F., Liu,Z., Beier,D.R., Aszodi,A. and Kiss,I. TITLE Comparative analysis of the mouse and human genes (Matn2 and MATN2) for matrilin-2, a filament-forming protein widely distributed in extracellular matrices JOURNAL Matrix Biol. 21 (2), 163-174 (2002) PUBMED 11852232 REMARK GeneRIF: matrilin-2, a filament-forming protein widely distributed in extracellular matrices. REFERENCE 9 (bases 1 to 4065) AUTHORS Muratoglu,S., Krysan,K., Balazs,M., Sheng,H., Zakany,R., Modis,L., Kiss,I. and Deak,F. TITLE Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes JOURNAL Cytogenet. Cell Genet. 90 (3-4), 323-327 (2000) PUBMED 11124542 REFERENCE 10 (bases 1 to 4065) AUTHORS Deak,F., Piecha,D., Bachrati,C., Paulsson,M. and Kiss,I. TITLE Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily JOURNAL J. Biol. Chem. 272 (14), 9268-9274 (1997) PUBMED 9083061 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CB988661.1, AY358895.1, AK075489.1, BX649093.1, BC010444.1, AL833931.1 and AI434413.1. On Apr 14, 2005 this sequence version replaced gi:13518038. Summary: This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. 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 :: BC010444.1, AK289721.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-638 CB988661.1 29-666 639-1296 AY358895.1 611-1268 1297-1558 AK075489.1 1267-1528 1559-1985 AY358895.1 1408-1834 1986-2812 BX649093.1 1102-1928 2813-3153 BC010444.1 2804-3144 3154-3547 AL833931.1 3161-3554 3548-4065 AI434413.1 1-518 c FEATURES Location/Qualifiers source 1..4065 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8q22" gene 1..4065 /gene="MATN2" /note="matrilin 2" /db_xref="GeneID:4147" /db_xref="HGNC:6908" /db_xref="HPRD:03660" /db_xref="MIM:602108" exon 1..205 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 135 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:375817069" exon 206..373 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 227 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:367644090" variation 231 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:11559203" CDS 232..3045 /gene="MATN2" /note="isoform b precursor is encoded by transcript variant 2; matrilin-2" /codon_start=1 /product="matrilin-2 isoform b precursor" /protein_id="NP_085072.2" /db_xref="GI:62548862" /db_xref="CCDS:CCDS55265.1" /db_xref="GeneID:4147" /db_xref="HGNC:6908" /db_xref="HPRD:03660" /db_xref="MIM:602108" /translation="
MEKMLAGCFLLILGQIVLLPAEARERSRGRSISRGRHARTHPQTALLESSCENKRADLVFIIDSSRSVNTHDYAKVKEFIVDILQFLDIGPDVTRVGLLQYGSTVKNEFSLKTFKRKSEVERAVKRMRHLSTGTMTGLAIQYALNIAFSEAEGARPLRENVPRVIMIVTDGRPQDSVAEVAAKARDTGILIFAIGVGQVDFNTLKSIGSEPHEDHVFLVANFSQIETLTSVFQKKLCTAHMCSTLEHNCAHFCINIPGSYVCRCKQGYILNSDQTTCRIQDLCAMEDHNCEQLCVNVPGSFVCQCYSGYALAEDGKRCVAVDYCASENHGCEHECVNADGSYLCQCHEGFALNPDKKTCTKIDYCASSNHGCQHECVNTDDSYSCHCLKGFTLNPDKKTCRRINYCALNKPGCEHECVNMEESYYCRCHRGYTLDPNGKTCSRVDHCAQQDHGCEQLCLNTEDSFVCQCSEGFLINEDLKTCSRVDYCLLSDHGCEYSCVNMDRSFACQCPEGHVLRSDGKTCAKLDSCALGDHGCEHSCVSSEDSFVCQCFEGYILREDGKTCRRKDVCQAIDHGCEHICVNSDDSYTCECLEGFRLAEDGKRCRRKDVCKSTHHGCEHICVNNGNSYICKCSEGFVLAEDGRRCKKCTEGPIDLVFVIDGSKSLGEENFEVVKQFVTGIIDSLTISPKAARVGLLQYSTQVHTEFTLRNFNSAKDMKKAVAHMKYMGKGSMTGLALKHMFERSFTQGEGARPLSTRVPRAAIVFTDGRAQDDVSEWASKAKANGITMYAVGVGKAIEEELQEIASEPTNKHLFYAEDFSTMDEISEKLKKGICEALEDSDGRQDSPAGELPKTVQQPTVQHRYLFEEDNLLRSTQKLSHSTKPSGSPLEEKHDQCKCENLIMFQNLANEEVRKLTQRLEEMTQRMEALENRLRYR
" sig_peptide 232..300 /gene="MATN2" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 301..3042 /gene="MATN2" /product="matrilin-2 isoform b" misc_feature 391..1059 /gene="MATN2" /note="VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments; Region: vWA_Matrilin; cd01475" /db_xref="CDD:29248" misc_feature order(418..420,424..426,430..432,631..633,739..741) /gene="MATN2" /note="metal ion-dependent adhesion site (MIDAS); other site" /db_xref="CDD:29248" misc_feature 1129..1197 /gene="MATN2" /note="Complement Clr-like EGF-like; Region: cEGF; pfam12662" /db_xref="CDD:205000" misc_feature <1174..1305 /gene="MATN2" /note="Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of...; Region: vWFA; cl00057" /db_xref="CDD:206808" misc_feature <1273..1428 /gene="MATN2" /note="Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of...; Region: vWFA; cl00057" /db_xref="CDD:206808" misc_feature 1498..1566 /gene="MATN2" /note="Complement Clr-like EGF-like; Region: cEGF; pfam12662" /db_xref="CDD:205000" misc_feature <1543..1674 /gene="MATN2" /note="Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of...; Region: vWFA; cl00057" /db_xref="CDD:206808" misc_feature <1669..1797 /gene="MATN2" /note="Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of...; Region: vWFA; cl00057" /db_xref="CDD:206808" misc_feature <1789..1920 /gene="MATN2" /note="Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of...; Region: vWFA; cl00057" /db_xref="CDD:206808" misc_feature <1912..2040 /gene="MATN2" /note="Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of...; Region: vWFA; cl00057" /db_xref="CDD:206808" misc_feature <2035..2163 /gene="MATN2" /note="Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of...; Region: vWFA; cl00057" /db_xref="CDD:206808" misc_feature 2185..2850 /gene="MATN2" /note="VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments; Region: vWA_Matrilin; cd01475" /db_xref="CDD:29248" misc_feature order(2212..2214,2218..2220,2224..2226,2425..2427, 2533..2535) /gene="MATN2" /note="metal ion-dependent adhesion site (MIDAS); other site" /db_xref="CDD:29248" misc_feature 2854..2856 /gene="MATN2" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 2857..2859 /gene="MATN2" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 2908..3036 /gene="MATN2" /note="Trimeric coiled-coil oligomerisation domain of matrilin; Region: Matrilin_ccoil; pfam10393" /db_xref="CDD:204471" variation 270 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:376715058" variation 272 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:35804177" variation 279 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:186093758" variation 303 /gene="MATN2" /replace="g" /replace="t" /db_xref="dbSNP:373506520" variation 308 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:201879642" variation 313 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:200041053" variation 334 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:200952405" variation 342 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:372776833" variation 351 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:375784459" exon 374..943 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 384 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:368301779" variation 394 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:199853259" variation 398 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:138635803" variation 406 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:375231141" variation 453 /gene="MATN2" /replace="a" /replace="c" /db_xref="dbSNP:367834031" variation 462 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:34316794" variation 471 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:375876006" variation 472 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:368734164" variation 514 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:372069733" variation 515 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:377512829" variation 534 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:376568364" variation 537 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:369492139" variation 555 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:200323821" variation 585 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:200280956" variation 586 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:374944195" variation 595 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:368952003" variation 599 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:372409910" variation 613 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:377009254" variation 615 /gene="MATN2" /replace="g" /replace="t" /db_xref="dbSNP:371585254" variation 627 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:373379380" variation 634 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:377400284" variation 639 /gene="MATN2" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:2290470" variation 669 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:375276855" variation 692 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:201589846" variation 719 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:370342485" variation 723 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:374221169" variation 733 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:367650776" variation 738 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:2290471" variation 763 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:34354598" variation 785 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:200270504" variation 791 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:2290472" variation 798 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:374969831" variation 817 /gene="MATN2" /replace="g" /replace="t" /db_xref="dbSNP:369127604" variation 851 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:374817323" variation 858 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:187552048" variation 930 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:368966602" variation 937 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:374084643" exon 944..1066 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 944 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:199768448" variation 951 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:2513845" variation 958 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:200822499" variation 1012 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:377586756" variation 1019 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:139657774" variation 1047 /gene="MATN2" /replace="g" /replace="t" /db_xref="dbSNP:35407519" exon 1067..1189 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 1079 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:370199325" variation 1084 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:375539224" variation 1085 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:201458081" variation 1127 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:199611870" variation 1134 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:374362031" variation 1155 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:112626438" variation 1158 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:372237220" exon 1190..1312 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 1205 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:146982976" variation 1218 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:369817801" variation 1219 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:374391695" variation 1234 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:184482356" variation 1244 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:138153044" variation 1266 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:375963488" variation 1286 /gene="MATN2" /replace="g" /replace="t" /db_xref="dbSNP:373486105" variation 1297 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:1869609" variation 1299 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:1869608" variation 1304 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:372424373" variation 1305 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:376481997" variation 1311 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:371119965" exon 1313..1435 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 1329 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:12234986" variation 1341 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:11559202" variation 1353 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:11559201" variation 1363 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:376658286" variation 1381 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:77491480" variation 1392 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:16896514" variation 1394 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:200521380" exon 1436..1558 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 1464 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:369211555" variation 1483 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:78489540" variation 1490 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:375793969" variation 1505 /gene="MATN2" /replace="a" /replace="c" /db_xref="dbSNP:199538521" variation 1520 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:199953090" variation 1537 /gene="MATN2" /replace="a" /replace="c" /db_xref="dbSNP:371094213" variation 1541 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:373444732" exon 1559..1681 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 1568 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:375245334" variation 1613 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:367846991" variation 1626 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:371466690" variation 1627 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:377254481" variation 1645 /gene="MATN2" /replace="g" /replace="t" /db_xref="dbSNP:74893724" variation 1659 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:201014732" variation 1672 /gene="MATN2" /replace="a" /replace="t" /db_xref="dbSNP:372520103" exon 1682..1804 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 1727 /gene="MATN2" /replace="g" /replace="t" /db_xref="dbSNP:377530523" variation 1733 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:199931655" variation 1765 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:369974305" variation 1774 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:372608950" variation 1780 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:373873113" variation 1781 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:201090956" variation 1785 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:370974462" variation 1794 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:201718231" exon 1805..1927 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 1811 /gene="MATN2" /replace="a" /replace="c" /db_xref="dbSNP:202116053" variation 1833 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:199532725" variation 1836 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:374977318" variation 1848 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:79255841" variation 1869 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:371554342" variation 1875 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:192237299" variation 1881 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:369131291" variation 1886 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:144603993" variation 1896 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:377427173" variation 1900 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:369620547" variation 1904 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:374039867" exon 1928..2050 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 1953 /gene="MATN2" /replace="a" /replace="c" /db_xref="dbSNP:192151558" variation 1973 /gene="MATN2" /replace="g" /replace="t" /db_xref="dbSNP:376327150" variation 1977 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:370242394" variation 1986 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:2248014" variation 1987 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:75614624" variation 1998 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:371980475" variation 2001 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:374356192" variation 2026 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:35120814" variation 2028 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:371829719" variation 2039 /gene="MATN2" /replace="a" /replace="c" /db_xref="dbSNP:376127621" variation 2041 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:367737640" variation 2042 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:371684809" variation 2048 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:201583801" exon 2051..2173 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 2059 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:61729731" variation 2067 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:140221245" variation 2130 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:370250391" variation 2164 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:200356542" variation 2165 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:375640185" exon 2174..2587 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 2176 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:368472674" variation 2222 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:11559204" variation 2236 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:370962170" variation 2288 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:74661302" variation 2294 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:374024071" variation 2304 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:2290466" variation 2305 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:139198886" variation 2345 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:371472415" variation 2348 /gene="MATN2" /replace="a" /replace="c" /db_xref="dbSNP:201479365" variation 2355 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:17850662" variation 2356 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:183598203" variation 2394 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:376653466" variation 2395 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:367650132" variation 2403 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:372927139" variation 2535 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:377164086" variation 2553 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:369605561" variation 2576 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:373541180" exon 2588..2740 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 2613 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:375792756" variation 2620 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:370142554" variation 2704 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:200768007" variation 2719 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:138475492" exon 2741..2812 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 2748..2749 /gene="MATN2" /replace="" /replace="a" /db_xref="dbSNP:56823249" variation 2752 /gene="MATN2" /replace="g" /replace="t" /db_xref="dbSNP:375073171" variation 2789 /gene="MATN2" /replace="a" /replace="c" /db_xref="dbSNP:202178487" variation 2795 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:2255317" variation 2796 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:199863822" exon 2813..2890 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 2814 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:367696106" variation 2830 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:149724220" variation 2835 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:376180527" variation 2851 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:145754758" variation 2852 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:199687930" variation 2859 /gene="MATN2" /replace="a" /replace="c" /db_xref="dbSNP:372223458" exon 2891..2989 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 2894 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:78719741" variation 2968 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:17831160" variation 2985 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:181639683" variation 2989 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:374854256" exon 2990..4053 /gene="MATN2" /inference="alignment:Splign:1.39.8" variation 2998 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:191138606" variation 2999 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:151208737" STS 3038..3571 /gene="MATN2" /standard_name="MATN2__7381" /db_xref="UniSTS:466303" variation 3058 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:376487178" variation 3060 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:370172576" variation 3067 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:373385394" variation 3078 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:374486028" variation 3085 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:370794970" variation 3098 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:375294399" variation 3114 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:112570015" variation 3132 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:377765681" variation 3154 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:3088121" variation 3166 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:182693939" variation 3260 /gene="MATN2" /replace="g" /replace="t" /db_xref="dbSNP:139149764" STS 3313..3521 /gene="MATN2" /standard_name="HSCZPH042" /db_xref="UniSTS:74693" STS 3316..3422 /gene="MATN2" /standard_name="G59494" /db_xref="UniSTS:136658" variation 3348 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:113398442" variation 3357 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:146582723" STS 3385..3497 /gene="MATN2" /standard_name="A006G02" /db_xref="UniSTS:7196" STS 3385..3497 /gene="MATN2" /standard_name="G20777" /db_xref="UniSTS:7195" variation 3393 /gene="MATN2" /replace="g" /replace="t" /db_xref="dbSNP:187288490" STS 3398..3522 /gene="MATN2" /standard_name="SHGC-36779" /db_xref="UniSTS:80543" variation 3421 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:371021657" variation 3434 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:2615" variation 3472 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:141191569" variation 3520 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:145016770" polyA_signal 3524..3529 /gene="MATN2" polyA_site 3547 /gene="MATN2" /experiment="experimental evidence, no additional details recorded" polyA_site 3552 /gene="MATN2" /experiment="experimental evidence, no additional details recorded" variation 3578 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:192228074" variation 3713 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:55643500" variation 3727 /gene="MATN2" /replace="c" /replace="t" /db_xref="dbSNP:115856396" variation 3770..3779 /gene="MATN2" /replace="" /replace="gcaaatggca" /db_xref="dbSNP:139522061" variation 3772..3779 /gene="MATN2" /replace="" /replace="aaatggca" /db_xref="dbSNP:202201727" STS 3824..3962 /gene="MATN2" /standard_name="RH66182" /db_xref="UniSTS:27244" variation 3836 /gene="MATN2" /replace="c" /replace="g" /db_xref="dbSNP:145858235" variation 3860 /gene="MATN2" /replace="a" /replace="t" /db_xref="dbSNP:55698709" variation 3872 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:111317182" variation 3897 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:77361665" variation 3908 /gene="MATN2" /replace="a" /replace="g" /db_xref="dbSNP:60891161" variation 3980 /gene="MATN2" /replace="a" /replace="c" /db_xref="dbSNP:183104114" variation 4012 /gene="MATN2" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:149017371" polyA_signal 4033..4038 /gene="MATN2" polyA_site 4053 /gene="MATN2" ORIGIN
gcgagcgaagggagcgctctgggatgggacttggagcaagcggcggcggcggagacagaggcagaggcagaagctggggctccgtcctcgcctcccacgagcgatccccgaggagagccgcggccctcggcgaggcgaagaggccgacgaggaagacccgggtggctgcgcccctgcctcgcttcccaggcgccggcggctgcagccttgcccctcttgctcgccttgaaaatggaaaagatgctcgcaggctgctttctgctgatcctcggacagatcgtcctcctccctgccgaggccagggagcggtcacgtgggaggtccatctctaggggcagacacgctcggacccacccgcagacggcccttctggagagttcctgtgagaacaagcgggcagacctggttttcatcattgacagctctcgcagtgtcaacacccatgactatgcaaaggtcaaggagttcatcgtggacatcttgcaattcttggacattggtcctgatgtcacccgagtgggcctgctccaatatggcagcactgtcaagaatgagttctccctcaagaccttcaagaggaagtccgaggtggagcgtgctgtcaagaggatgcggcatctgtccacgggcaccatgactgggctggccatccagtatgccctgaacatcgcattctcagaagcagagggggcccggcccctgagggagaatgtgccacgggtcataatgatcgtgacagatgggagacctcaggactccgtggccgaggtggctgctaaggcacgggacacgggcatcctaatctttgccattggtgtgggccaggtagacttcaacaccttgaagtccattgggagtgagccccatgaggaccatgtcttccttgtggccaatttcagccagattgagacgctgacctccgtgttccagaagaagttgtgcacggcccacatgtgcagcaccctggagcataactgtgcccacttctgcatcaacatccctggctcatacgtctgcaggtgcaaacaaggctacattctcaactcggatcagacgacttgcagaatccaggatctgtgtgccatggaggaccacaactgtgagcagctctgtgtgaatgtgccgggctccttcgtctgccagtgctacagtggctacgccctggctgaggatgggaagaggtgtgtggctgtggactactgtgcctcagaaaaccacggatgtgaacatgagtgtgtaaatgctgatggctcctacctttgccagtgccatgaaggatttgctcttaacccagataaaaaaacgtgcacaaagatagactactgtgcctcatctaatcacggatgtcagcacgagtgtgttaacacagatgattcctattcctgccactgcctgaaaggctttaccctgaatccagataagaaaacctgcagaaggatcaactactgtgcactgaacaaaccgggctgtgagcatgagtgcgtcaacatggaggagagctactactgccgctgccaccgtggctacactctggaccccaatggcaaaacctgcagccgagtggaccactgtgcacagcaggaccatggctgtgagcagctgtgtctgaacacggaggattccttcgtctgccagtgctcagaaggcttcctcatcaacgaggacctcaagacctgctcccgggtggattactgcctgctgagtgaccatggttgtgaatactcctgtgtcaacatggacagatcctttgcctgtcagtgtcctgagggacacgtgctccgcagcgatgggaagacgtgtgcaaaattggactcttgtgctctgggggaccacggttgtgaacattcgtgtgtaagcagtgaagattcgtttgtgtgccagtgctttgaaggttatatactccgtgaagatggaaaaacctgcagaaggaaagatgtctgccaagctatagaccatggctgtgaacacatttgtgtgaacagtgatgactcatacacgtgcgagtgcttggagggattccggctcgctgaggatgggaaacgctgccgaaggaaggatgtctgcaaatcaacccaccatggctgcgaacacatttgtgttaataatgggaattcctacatctgcaaatgctcagagggatttgttctagctgaggacggaagacggtgcaagaaatgcactgaaggcccaattgacctggtctttgtgatcgatggatccaagagtcttggagaagagaattttgaggtcgtgaagcagtttgtcactggaattatagattccttgacaatttcccccaaagccgctcgagtggggctgctccagtattccacacaggtccacacagagttcactctgagaaacttcaactcagccaaagacatgaaaaaagccgtggcccacatgaaatacatgggaaagggctctatgactgggctggccctgaaacacatgtttgagagaagttttacccaaggagaaggggccaggcccctttccacaagggtgcccagagcagccattgtgttcaccgacggacgggctcaggatgacgtctccgagtgggccagtaaagccaaggccaatggtatcactatgtatgctgttggggtaggaaaagccattgaggaggaactacaagagattgcctctgagcccacaaacaagcatctcttctatgccgaagacttcagcacaatggatgagataagtgaaaaactcaagaaaggcatctgtgaagctctagaagactccgatggaagacaggactctccagcaggggaactgccaaaaacggtccaacagccaacagtgcaacacagatatctgtttgaagaagacaatcttttacggtctacacaaaagctttcccattcaacaaaaccttcaggaagccctttggaagaaaaacacgatcaatgcaaatgtgaaaaccttataatgttccagaaccttgcaaacgaagaagtaagaaaattaacacagcgcttagaagaaatgacacagagaatggaagccctggaaaatcgcctgagatacagatgaagattagaaatcgcgacacatttgtagtcattgtatcacggattacaatgaacgcagtgcagagccccaaagctcaggctattgttaaatcaataatgttgtgaagtaaaacaatcagtactgagaaacctggtttgccacagaacaaagacaagaagtatacactaacttgtataaatttatctaggaaaaaaatccttcagaattctaagatgaatttaccaggtgagaatgaataagctatgcaaggtattttgtaatatactgtggacacaacttgcttctgcctcatcctgccttagtgtgcaatctcatttgactatacgataaagtttgcacagtcttacttctgtagaacactggccataggaaatgctgtttttttgtactggactttaccttgatatatgtatatggatgtatgcataaaatcataggacatatgtacttgtggaacaagttggattttttatacaatattaaaattcaccacttcagagaatggtattcagtgcaaaaattcttagtttaactttaaatggaagatatgtatgtatgagaaatggccaacatgcctatgaaaaaaatgctgaatctcatcagtaatcaggaaaatgcaggttaaaacaataccatttttcacccatcagcttagcaaaaatgagtatattttttaacaagtgttggtaaggatgtggaaatgtgaggttcttgtagtaagaatgcaaatggcactctttgtagagtaagtctgttgacatctcataaaactgaaaatgcacacaaccctgtaaatctagcaactgcactcagttgatttcagcccatacatacaaagagacctgcataagaatgttactaggctttgtaaaagcaaaaaataaggaacaacttaaacatcatcagaaggggaactgataaactctggtgtaatccataccacagaaatacaacaccgcatgtacaggaatgtgctacatctatacaaataaatggtcaaactcaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:4147 -> Molecular function: GO:0003674 [molecular_function] evidence: ND GeneID:4147 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA GeneID:4147 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:4147 -> Biological process: GO:0001764 [neuron migration] evidence: IEA GeneID:4147 -> Biological process: GO:0007411 [axon guidance] evidence: IEA GeneID:4147 -> Biological process: GO:0008150 [biological_process] evidence: ND GeneID:4147 -> Biological process: GO:0008347 [glial cell migration] evidence: IEA GeneID:4147 -> Biological process: GO:0031104 [dendrite regeneration] evidence: IEA GeneID:4147 -> Biological process: GO:0048678 [response to axon injury] evidence: IEA GeneID:4147 -> Cellular component: GO:0005578 [proteinaceous extracellular matrix] evidence: NAS GeneID:4147 -> Cellular component: GO:0005604 [basement membrane] evidence: IEA GeneID:4147 -> Cellular component: GO:0031012 [extracellular matrix] evidence: IDA GeneID:4147 -> Cellular component: GO:0031012 [extracellular matrix] evidence: ISS
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.