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{{Infobox_gene}}
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'''EGF-containing fibulin-like extracellular matrix protein 2''' is a [[protein]] that in humans is encoded by the ''EFEMP2'' [[gene]].<ref name="pmid10601734">{{cite journal | vauthors = Giltay R, Timpl R, Kostka G | title = Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4 | journal = Matrix Biol | volume = 18 | issue = 5 | pages = 469–80 |date=Feb 2000 | pmid = 10601734 | pmc = | doi =10.1016/S0945-053X(99)00038-4  }}</ref><ref name="pmid10982184">{{cite journal | vauthors = Katsanis N, Venable S, Smith JR, Lupski JR | title = Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13 | journal = Hum Genet | volume = 106 | issue = 1 | pages = 66–72 |date=Sep 2000 | pmid = 10982184 | pmc =  | doi =10.1007/s004390051011 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: EFEMP2 EGF-containing fibulin-like extracellular matrix protein 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30008| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = EGF-containing fibulin-like extracellular matrix protein 2
| HGNCid = 3219
| Symbol = EFEMP2
| AltSymbols =; MBP1; FBLN4; UPH1
| OMIM = 604633
| ECnumber = 
| Homologene = 32339
| MGIid = 1891209
| GeneAtlas_image1 = PBB_GE_EFEMP2_206580_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_EFEMP2_209356_x_at_tn.png
| Function = {{GNF_GO|id=GO:0004888 |text = transmembrane receptor activity}} {{GNF_GO|id=GO:0005201 |text = extracellular matrix structural constituent}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005604 |text = basement membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}  
| Process = {{GNF_GO|id=GO:0007156 |text = homophilic cell adhesion}} {{GNF_GO|id=GO:0007596 |text = blood coagulation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 30008
    | Hs_Ensembl = ENSG00000172638
    | Hs_RefseqProtein = NP_058634
    | Hs_RefseqmRNA = NM_016938
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 65390489
    | Hs_GenLoc_end = 65397655
    | Hs_Uniprot = O95967
    | Mm_EntrezGene = 58859
    | Mm_Ensembl = ENSMUSG00000024909
    | Mm_RefseqmRNA = XM_979992
    | Mm_RefseqProtein = XP_985086
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 5474701
    | Mm_GenLoc_end = 5481853
    | Mm_Uniprot = Q542X5
  }}
}}
'''EGF-containing fibulin-like extracellular matrix protein 2''', also known as '''EFEMP2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EFEMP2 EGF-containing fibulin-like extracellular matrix protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30008| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein described here contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is widely expressed in a range of adult and fetal tissues.<ref name="entrez">{{cite web | title = Entrez Gene: EFEMP2 EGF-containing fibulin-like extracellular matrix protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30008| accessdate = }}</ref>
| summary_text = A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. EFEMP2 (also known as fibulin-4) contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is widely expressed in a range of adult and fetal tissues.<ref name="entrez"/>
}}
}}
==Interactions==
EFEMP2 has been shown to [[Protein-protein interaction|interact]] with [[P53]].<ref name=pmid10380882>{{cite journal |last=Gallagher |first=W M |author2=Argentini M |author3=Sierra V |author4=Bracco L |author5=Debussche L |author6=Conseiller E  |date=Jun 1999 |title=MBP1: a novel mutant p53-specific protein partner with oncogenic properties |journal=Oncogene |volume=18 |issue=24 |pages=3608–16 |publisher= |location = ENGLAND| issn = 0950-9232| pmid = 10380882 |doi = 10.1038/sj.onc.1202937 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Gallagher WM, Argentini M, Sierra V, ''et al.'' |title=MBP1: a novel mutant p53-specific protein partner with oncogenic properties. |journal=Oncogene |volume=18 |issue= 24 |pages= 3608-16 |year= 1999 |pmid= 10380882 |doi= 10.1038/sj.onc.1202937 }}
*{{cite journal  | vauthors=Gallagher WM, Argentini M, Sierra V |title=MBP1: a novel mutant p53-specific protein partner with oncogenic properties. |journal=Oncogene |volume=18 |issue= 24 |pages= 3608–16 |year= 1999 |pmid= 10380882 |doi= 10.1038/sj.onc.1202937 |display-authors=etal}}
*{{cite journal  | author=Giltay R, Timpl R, Kostka G |title=Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. |journal=Matrix Biol. |volume=18 |issue= 5 |pages= 469-80 |year= 2000 |pmid= 10601734 |doi=  }}
*{{cite journal  | vauthors=Gallagher WM, Greene LM, Ryan MP |title=Human fibulin-4: analysis of its biosynthetic processing and mRNA expression in normal and tumour tissues. |journal=FEBS Lett. |volume=489 |issue= 1 |pages= 59–66 |year= 2001 |pmid= 11231014 |doi=10.1016/S0014-5793(00)02389-9 |display-authors=etal}}
*{{cite journal  | author=Katsanis N, Venable S, Smith JR, Lupski JR |title=Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. |journal=Hum. Genet. |volume=106 |issue= 1 |pages= 66-72 |year= 2000 |pmid= 10982184 |doi= }}
*{{cite journal  | vauthors=Wistow G, Bernstein SL, Wyatt MK |title=Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. |journal=Mol. Vis. |volume=8 |issue=  |pages= 196–204 |year= 2002 |pmid= 12107411 |doi=  |display-authors=etal}}
*{{cite journal  | author=Gallagher WM, Greene LM, Ryan MP, ''et al.'' |title=Human fibulin-4: analysis of its biosynthetic processing and mRNA expression in normal and tumour tissues. |journal=FEBS Lett. |volume=489 |issue= 1 |pages= 59-66 |year= 2001 |pmid= 11231014 |doi=  }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal|bibcode=2002PNAS...9916899M }}
*{{cite journal  | author=Wistow G, Bernstein SL, Wyatt MK, ''et al.'' |title=Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. |journal=Mol. Vis. |volume=8 |issue=  |pages= 196-204 |year= 2002 |pmid= 12107411 |doi=  }}
*{{cite journal  | vauthors=Clark HF, Gurney AL, Abaya E |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | vauthors=Rual JF, Venkatesan K, Hao T |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |display-authors=etal|bibcode=2005Natur.437.1173R }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | vauthors=Otsuki T, Ota T, Nishikawa T |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 |display-authors=etal}}
*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal  | vauthors=Xiang Y, Sekine T, Nakamura H |title=Fibulin-4 is a target of autoimmunity predominantly in patients with osteoarthritis. |journal=J. Immunol. |volume=176 |issue= 5 |pages= 3196–204 |year= 2006 |pmid= 16493080 |doi=  10.4049/jimmunol.176.5.3196|display-authors=etal}}
*{{cite journal  | author=Otsuki T, Ota T, Nishikawa T, ''et al.'' |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117-26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 }}
*{{cite journal  | vauthors=Taylor TD, Noguchi H, Totoki Y |title=Human chromosome 11 DNA sequence and analysis including novel gene identification. |journal=Nature |volume=440 |issue= 7083 |pages= 497–500 |year= 2006 |pmid= 16554811 |doi= 10.1038/nature04632 |display-authors=etal|bibcode=2006Natur.440..497T }}
*{{cite journal  | author=Xiang Y, Sekine T, Nakamura H, ''et al.'' |title=Fibulin-4 is a target of autoimmunity predominantly in patients with osteoarthritis. |journal=J. Immunol. |volume=176 |issue= 5 |pages= 3196-204 |year= 2006 |pmid= 16493080 |doi=  }}
*{{cite journal  | vauthors=Hucthagowder V, Sausgruber N, Kim KH |title=Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. |journal=Am. J. Hum. Genet. |volume=78 |issue= 6 |pages= 1075–80 |year= 2006 |pmid= 16685658 |doi= 10.1086/504304 | pmc=1474103 |display-authors=etal}}
*{{cite journal  | author=Taylor TD, Noguchi H, Totoki Y, ''et al.'' |title=Human chromosome 11 DNA sequence and analysis including novel gene identification. |journal=Nature |volume=440 |issue= 7083 |pages= 497-500 |year= 2006 |pmid= 16554811 |doi= 10.1038/nature04632 }}
*{{cite journal  | vauthors=El-Hallous E, Sasaki T, Hubmacher D |title=Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin. |journal=J. Biol. Chem. |volume=282 |issue= 12 |pages= 8935–46 |year= 2007 |pmid= 17255108 |doi= 10.1074/jbc.M608204200 |display-authors=etal}}
*{{cite journal  | author=Hucthagowder V, Sausgruber N, Kim KH, ''et al.'' |title=Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. |journal=Am. J. Hum. Genet. |volume=78 |issue= 6 |pages= 1075-80 |year= 2006 |pmid= 16685658 |doi= 10.1086/504304 }}
*{{cite journal  | author=El-Hallous E, Sasaki T, Hubmacher D, ''et al.'' |title=Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin. |journal=J. Biol. Chem. |volume=282 |issue= 12 |pages= 8935-46 |year= 2007 |pmid= 17255108 |doi= 10.1074/jbc.M608204200 }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/books/NBK54467/  GeneReview/NCBI/NIH/UW entry on EFEMP2-Related Cutis Laxa]
 
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Latest revision as of 10:13, 23 June 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

EGF-containing fibulin-like extracellular matrix protein 2 is a protein that in humans is encoded by the EFEMP2 gene.[1][2][3]

A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. EFEMP2 (also known as fibulin-4) contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is widely expressed in a range of adult and fetal tissues.[3]

Interactions

EFEMP2 has been shown to interact with P53.[4]

References

  1. Giltay R, Timpl R, Kostka G (Feb 2000). "Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4". Matrix Biol. 18 (5): 469–80. doi:10.1016/S0945-053X(99)00038-4. PMID 10601734.
  2. Katsanis N, Venable S, Smith JR, Lupski JR (Sep 2000). "Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13". Hum Genet. 106 (1): 66–72. doi:10.1007/s004390051011. PMID 10982184.
  3. 3.0 3.1 "Entrez Gene: EFEMP2 EGF-containing fibulin-like extracellular matrix protein 2".
  4. Gallagher, W M; Argentini M; Sierra V; Bracco L; Debussche L; Conseiller E (Jun 1999). "MBP1: a novel mutant p53-specific protein partner with oncogenic properties". Oncogene. ENGLAND. 18 (24): 3608–16. doi:10.1038/sj.onc.1202937. ISSN 0950-9232. PMID 10380882.

Further reading

External links