ID E9PHW4_HUMAN Unreviewed; 341 AA. AC E9PHW4; DT 05-APR-2011, integrated into UniProtKB/TrEMBL. DT 05-APR-2011, sequence version 1. DT 13-FEB-2019, entry version 69. DE SubName: Full=Fibrillin-2 {ECO:0000313|Ensembl:ENSP00000424753}; GN Name=FBN2 {ECO:0000313|Ensembl:ENSP00000424753}; 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 {ECO:0000313|Ensembl:ENSP00000424753, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000424753, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15372022; DOI=10.1038/nature02919; RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S., RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., RA Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., RA Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., RA Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., RA Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., RA Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., RA Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., RA Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., RA Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., RA Richardson P., Lucas S.M., Myers R.M., Rubin E.M.; RT "The DNA sequence and comparative analysis of human chromosome 5."; RL Nature 431:268-274(2004). RN [2] {ECO:0000313|Ensembl:ENSP00000424753} RP IDENTIFICATION. RG Ensembl; RL Submitted (JUL-2011) to UniProtKB. CC -!- CAUTION: Lacks conserved residue(s) required for the propagation CC of feature annotation. {ECO:0000256|PROSITE-ProRule:PRU00076}. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AC025169; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC034235; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC113387; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC114276; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF510259; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR ProteinModelPortal; E9PHW4; -. DR SMR; E9PHW4; -. DR jPOST; E9PHW4; -. DR MaxQB; E9PHW4; -. DR PeptideAtlas; E9PHW4; -. DR PRIDE; E9PHW4; -. DR Ensembl; ENST00000502468; ENSP00000424753; ENSG00000138829. DR UCSC; uc003kuw.6; human. DR EuPathDB; HostDB:ENSG00000138829.10; -. DR HGNC; HGNC:3604; FBN2. DR OpenTargets; ENSG00000138829; -. DR eggNOG; ENOG410IR7H; Eukaryota. DR eggNOG; ENOG410XSTY; LUCA. DR GeneTree; ENSGT00940000153951; -. DR ChiTaRS; FBN2; human. DR Proteomes; UP000005640; Chromosome 5. DR Bgee; ENSG00000138829; Expressed in 146 organ(s), highest expression level in placenta. DR ExpressionAtlas; E9PHW4; baseline and differential. DR GO; GO:0062023; C:collagen-containing extracellular matrix; IEA:InterPro. DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro. DR GO; GO:0005201; F:extracellular matrix structural constituent; IEA:InterPro. DR Gene3D; 3.90.290.10; -; 1. DR InterPro; IPR001881; EGF-like_Ca-bd_dom. DR InterPro; IPR013032; EGF-like_CS. DR InterPro; IPR000742; EGF-like_dom. DR InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site. DR InterPro; IPR018097; EGF_Ca-bd_CS. DR InterPro; IPR011398; FBN. DR InterPro; IPR040872; Fibrillin_U_N. DR InterPro; IPR017878; TB_dom. DR InterPro; IPR036773; TB_dom_sf. DR PANTHER; PTHR24039; PTHR24039; 1. DR Pfam; PF07645; EGF_CA; 1. DR Pfam; PF18193; Fibrillin_U_N; 1. DR SMART; SM00181; EGF; 3. DR SMART; SM00179; EGF_CA; 1. DR SUPFAM; SSF57581; SSF57581; 1. DR PROSITE; PS00010; ASX_HYDROXYL; 1. DR PROSITE; PS00022; EGF_1; 1. DR PROSITE; PS01186; EGF_2; 1. DR PROSITE; PS50026; EGF_3; 2. DR PROSITE; PS01187; EGF_CA; 1. DR PROSITE; PS51364; TB; 1. PE 1: Evidence at protein level; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Disulfide bond {ECO:0000256|PROSITE-ProRule:PRU00076, KW ECO:0000256|SAAS:SAAS00601599}; KW EGF-like domain {ECO:0000256|PROSITE-ProRule:PRU00076, KW ECO:0000256|SAAS:SAAS00032677}; KW Proteomics identification {ECO:0000213|EPD:E9PHW4, KW ECO:0000213|MaxQB:E9PHW4, ECO:0000213|PeptideAtlas:E9PHW4}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}. FT SIGNAL 1 28 {ECO:0000256|SAM:SignalP}. FT CHAIN 29 341 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003242805. FT DOMAIN 176 208 EGF-like. {ECO:0000259|PROSITE:PS50026}. FT DOMAIN 214 257 TB. {ECO:0000259|PROSITE:PS51364}. FT DOMAIN 276 317 EGF-like. {ECO:0000259|PROSITE:PS50026}. FT DISULFID 180 190 {ECO:0000256|PROSITE-ProRule:PRU00076}. FT DISULFID 198 207 {ECO:0000256|PROSITE-ProRule:PRU00076}. SQ SEQUENCE 341 AA; 36796 MW; DA2230C8DBB78425 CRC64; MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVPICRNSCG DGFCSRPNMC TCSSGQISST CGSKSIQQCS VRCMNGGTCA DDHCQCQKGY IGTYCGQPVC ENGCQNGGRC IGPNRCACVY GFTGPQCERD YRTGPCFTQV NNQMCQGQLT GIVCTKTLCC ATIGRAWGHP CEMCPAQPQP CRRGFIPNIR TGACQDVDEC QAIPGICQGG NCINTVGSFE CRCPAGHKQS ETTQKCEVHV DKAQAGARCP CVILPSRLYL R //