GenomeNet

Database: UniProt
Entry: O94769
LinkDB: O94769
Original site: O94769 
ID   ECM2_HUMAN              Reviewed;         699 AA.
AC   O94769; B2R730; E2PU11; Q5T9F2; Q7Z3D0;
DT   08-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-MAY-1999, sequence version 1.
DT   08-MAY-2019, entry version 156.
DE   RecName: Full=Extracellular matrix protein 2;
DE   AltName: Full=Matrix glycoprotein SC1/ECM2;
DE   Flags: Precursor;
GN   Name=ECM2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX   PubMed=9790758; DOI=10.1006/geno.1998.5455;
RA   Nishiu J., Tanaka T., Nakamura Y.;
RT   "Identification of a novel gene (ECM2) encoding a putative
RT   extracellular matrix protein expressed predominantly in adipose and
RT   female-specific tissues and its chromosomal localization to 9q22.3.";
RL   Genomics 52:378-381(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Testis;
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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
RP   PRO-56.
RC   TISSUE=Retina;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA   Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA   Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
RA   Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
RA   Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
RA   Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
RA   Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
RA   Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
RA   Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
RA   Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
RA   Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
RA   Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
RA   Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
RA   Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
RA   Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
RA   McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
RA   Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
RA   Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
RA   Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
RA   Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
RA   Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
RA   Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
RA   Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
RA   Rogers J., Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: Promotes matrix assembly and cell adhesiveness.
CC       {ECO:0000250}.
CC   -!- SUBUNIT: Interacts with numerous extracellular matrix proteins.
CC       {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC       matrix.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=O94769-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=O94769-2; Sequence=VSP_039114, VSP_039115;
CC   -!- TISSUE SPECIFICITY: Expressed predominantly in adipose tissue as
CC       well as female-specific organs such as mammary gland, ovary, and
CC       uterus.
CC   -!- SIMILARITY: Belongs to the small leucine-rich proteoglycan (SLRP)
CC       family. SLRP class I subfamily. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=CAD97940.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
DR   EMBL; AB011792; BAA33958.1; -; mRNA.
DR   EMBL; AK312820; BAG35677.1; -; mRNA.
DR   EMBL; BX537976; CAD97940.1; ALT_INIT; mRNA.
DR   EMBL; AL137848; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL157827; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471089; EAW62824.1; -; Genomic_DNA.
DR   EMBL; BC107493; AAI07494.1; -; mRNA.
DR   CCDS; CCDS56578.1; -. [O94769-2]
DR   CCDS; CCDS6698.1; -. [O94769-1]
DR   RefSeq; NP_001184224.1; NM_001197295.1.
DR   RefSeq; NP_001184225.1; NM_001197296.1. [O94769-2]
DR   RefSeq; NP_001384.1; NM_001393.3. [O94769-1]
DR   IntAct; O94769; 1.
DR   STRING; 9606.ENSP00000344758; -.
DR   GlyConnect; 1229; -.
DR   iPTMnet; O94769; -.
DR   PhosphoSitePlus; O94769; -.
DR   BioMuta; ECM2; -.
DR   jPOST; O94769; -.
DR   PaxDb; O94769; -.
DR   PeptideAtlas; O94769; -.
DR   PRIDE; O94769; -.
DR   ProteomicsDB; 50433; -.
DR   ProteomicsDB; 50434; -. [O94769-2]
DR   DNASU; 1842; -.
DR   Ensembl; ENST00000344604; ENSP00000344758; ENSG00000106823. [O94769-1]
DR   Ensembl; ENST00000444490; ENSP00000393971; ENSG00000106823. [O94769-2]
DR   GeneID; 1842; -.
DR   KEGG; hsa:1842; -.
DR   UCSC; uc004asf.5; human. [O94769-1]
DR   CTD; 1842; -.
DR   DisGeNET; 1842; -.
DR   GeneCards; ECM2; -.
DR   HGNC; HGNC:3154; ECM2.
DR   HPA; HPA035347; -.
DR   MIM; 603479; gene.
DR   neXtProt; NX_O94769; -.
DR   OpenTargets; ENSG00000106823; -.
DR   PharmGKB; PA27599; -.
DR   eggNOG; KOG0619; Eukaryota.
DR   eggNOG; COG4886; LUCA.
DR   GeneTree; ENSGT00940000159941; -.
DR   HOGENOM; HOG000112319; -.
DR   InParanoid; O94769; -.
DR   KO; K08119; -.
DR   OMA; VWSPKPC; -.
DR   OrthoDB; 826997at2759; -.
DR   PhylomeDB; O94769; -.
DR   TreeFam; TF330031; -.
DR   GeneWiki; ECM2; -.
DR   GenomeRNAi; 1842; -.
DR   PRO; PR:O94769; -.
DR   Proteomes; UP000005640; Chromosome 9.
DR   Bgee; ENSG00000106823; Expressed in 207 organ(s), highest expression level in adipose tissue.
DR   ExpressionAtlas; O94769; baseline and differential.
DR   Genevisible; O94769; HS.
DR   GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
DR   GO; GO:0005614; C:interstitial matrix; IEA:Ensembl.
DR   GO; GO:0070052; F:collagen V binding; IBA:GO_Central.
DR   GO; GO:0008201; F:heparin binding; IBA:GO_Central.
DR   GO; GO:0005178; F:integrin binding; TAS:ProtInc.
DR   GO; GO:0007160; P:cell-matrix adhesion; TAS:ProtInc.
DR   GO; GO:0030198; P:extracellular matrix organization; IBA:GO_Central.
DR   GO; GO:0010811; P:positive regulation of cell-substrate adhesion; IBA:GO_Central.
DR   Gene3D; 3.80.10.10; -; 2.
DR   InterPro; IPR001611; Leu-rich_rpt.
DR   InterPro; IPR025875; Leu-rich_rpt_4.
DR   InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR   InterPro; IPR032675; LRR_dom_sf.
DR   InterPro; IPR001007; VWF_dom.
DR   Pfam; PF12799; LRR_4; 1.
DR   Pfam; PF13855; LRR_8; 3.
DR   Pfam; PF00093; VWC; 1.
DR   SMART; SM00369; LRR_TYP; 12.
DR   SMART; SM00214; VWC; 1.
DR   PROSITE; PS51450; LRR; 12.
DR   PROSITE; PS01208; VWFC_1; 1.
DR   PROSITE; PS50184; VWFC_2; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Complete proteome; Extracellular matrix;
KW   Glycoprotein; Leucine-rich repeat; Polymorphism; Reference proteome;
KW   Repeat; Secreted; Signal.
FT   SIGNAL        1     20       {ECO:0000255}.
FT   CHAIN        21    699       Extracellular matrix protein 2.
FT                                /FTId=PRO_0000032731.
FT   DOMAIN      101    158       VWFC. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00220}.
FT   DOMAIN      307    344       LRRNT.
FT   REPEAT      368    388       LRR 1.
FT   REPEAT      394    415       LRR 2.
FT   REPEAT      416    436       LRR 3.
FT   REPEAT      439    459       LRR 4.
FT   REPEAT      465    484       LRR 5.
FT   REPEAT      486    507       LRR 6.
FT   REPEAT      510    530       LRR 7.
FT   REPEAT      536    557       LRR 8.
FT   REPEAT      558    578       LRR 9.
FT   REPEAT      582    602       LRR 10.
FT   REPEAT      609    630       LRR 11.
FT   REPEAT      632    653       LRR 12.
FT   REPEAT      661    684       LRR 13.
FT   MOTIF       294    296       Cell attachment site. {ECO:0000255}.
FT   COMPBIAS    270    281       Poly-Glu.
FT   CARBOHYD    378    378       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    449    449       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    506    506       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   VAR_SEQ     161    182       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:17974005}.
FT                                /FTId=VSP_039114.
FT   VAR_SEQ     645    699       NILPEEICNAEEDDDSNLEHLHLENNYIKIREIPSYTFSCI
FT                                RSYSSIVLKPQNIK -> CVSDAVLETVTNRSDVAFPLW
FT                                (in isoform 2).
FT                                {ECO:0000303|PubMed:17974005}.
FT                                /FTId=VSP_039115.
FT   VARIANT      56     56       Q -> P (in dbSNP:rs10120210).
FT                                {ECO:0000269|PubMed:17974005}.
FT                                /FTId=VAR_024646.
FT   VARIANT     109    109       T -> S (in dbSNP:rs35496743).
FT                                /FTId=VAR_052010.
FT   VARIANT     204    204       R -> Q (in dbSNP:rs34758505).
FT                                /FTId=VAR_052011.
SQ   SEQUENCE   699 AA;  79789 MW;  E44E76A40A5C2742 CRC64;
     MKIAVLFCFF LLIIFQTDFG KNEEIPRKQR RKIYHRRLRK SSTSHKHRSN RQLGIQQTTV
     FTPVARLPIV NFDYSMEEKF ESFSSFPGVE SSYNVLPGKK GHCLVKGITM YNKAVWSPEP
     CTTCLCSDGR VLCDETMCHP QRCPQTVIPE GECCPVCSAT VSYSLLSGIA LNDRNEFSGD
     SSEQREPTNL LHKQLPPPQV GMDRIVRKEA LQSEEDEEVK EEDTEQKRET PESRNQGQLY
     SEGDSRGGDR KQRPGEERRL AHQQQRQGRE EEEDEEEEGE EGEEDEEDEE DPVRGDMFRM
     PSRSPLPAPP RGTLRLPSGC SLSYRTISCI NAMLTQIPPL TAPQITSLEL TGNSIASIPD
     EAFNGLPNLE RLDLSKNNIT SSGIGPKAFK LLKKLMRLNM DGNNLIQIPS QLPSTLEELK
     VNENNLQAID EESLSDLNQL VTLELEGNNL SEANVNPLAF KPLKSLAYLR LGKNKFRIIP
     QGLPGSIEEL YLENNQIEEI TEICFNHTRK INVIVLRYNK IEENRIAPLA WINQENLESI
     DLSYNKLYHV PSYLPKSLLH LVLLGNQIER IPGYVFGHME PGLEYLYLSF NKLADDGMDR
     VSFYGAYHSL RELFLDHNDL KSIPPGIQEM KALHFLRLNN NKIRNILPEE ICNAEEDDDS
     NLEHLHLENN YIKIREIPSY TFSCIRSYSS IVLKPQNIK
//
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