Efemp2 | ENSMUSG00000024909 | NCBI 58859

Details for: Efemp2

Gene ID: 58859

Symbol: Efemp2

Ensembl ID: ENSMUSG00000024909

Description: epidermal growth factor-containing fibulin-like extracellular matrix protein 2

Associated with

Elastic fibre formation
(R-MMU-1566948)
Extracellular matrix organization
(R-MMU-1474244)
Molecules associated with elastic fibres
(R-MMU-2129379)
Aorta development
(GO:0035904)
Aorta smooth muscle tissue morphogenesis
(GO:0060414)
Artery development
(GO:0060840)
Basement membrane
(GO:0005604)
Calcium ion binding
(GO:0005509)
Collagen-containing extracellular matrix
(GO:0062023)
Elastic fiber
(GO:0071953)
Elastic fiber assembly
(GO:0048251)
Extracellular matrix
(GO:0031012)
Extracellular matrix constituent conferring elasticity
(GO:0030023)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Heparin binding
(GO:0008201)
Microfibril
(GO:0001527)
Negative regulation of vascular associated smooth muscle cell proliferation
(GO:1904706)
Positive regulation of aortic smooth muscle cell differentiation
(GO:1904831)
Positive regulation of collagen fibril organization
(GO:1904028)
Positive regulation of smooth muscle cell-matrix adhesion
(GO:1905609)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Regulation of collagen fibril organization
(GO:1904026)
Vascular associated smooth muscle cell development
(GO:0097084)

Other Information

Proteins

Mutant p53-binding protein 1
G5E8D6_MOUSE

Genular Protein ID: 2119880581

Symbol: FBLN4_MOUSE

Name: Mutant p53-binding protein 1

UniProtKB Accession Codes:

Q9WVJ9

Database IDs:

Citations:

PubMed ID: 10380882

Title: MBP1: a novel mutant p53-specific protein partner with oncogenic properties.

PubMed ID: 10380882

DOI: 10.1038/sj.onc.1202937

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17324935

Title: A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization.

PubMed ID: 17324935

DOI: 10.1074/jbc.m611029200

PubMed ID: 16478991

Title: Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice.

PubMed ID: 16478991

DOI: 10.1128/mcb.26.5.1700-1709.2006

PubMed ID: 19855011

Title: Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase.

PubMed ID: 19855011

DOI: 10.1073/pnas.0908268106

PubMed ID: 20019329

Title: Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression.

PubMed ID: 20019329

DOI: 10.1161/circresaha.109.207852

PubMed ID: 23636094

Title: Angiotensin-converting enzyme-induced activation of local angiotensin signaling is required for ascending aortic aneurysms in fibulin-4-deficient mice.

PubMed ID: 23636094

DOI: 10.1126/scitranslmed.3005025

PubMed ID: 25713297

Title: Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms.

PubMed ID: 25713297

DOI: 10.1242/dmm.018960

PubMed ID: 26220971

Title: Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations.

PubMed ID: 26220971

DOI: 10.1093/hmg/ddv308

PubMed ID: 26178373

Title: Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.

PubMed ID: 26178373

DOI: 10.1074/jbc.m115.640425

PubMed ID: 26486174

Title: Abnormal mechanosensing and cofilin activation promote the progression of ascending aortic aneurysms in mice.

PubMed ID: 26486174

DOI: 10.1126/scisignal.aab3141

PubMed ID: 26711913

Title: Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice.

PubMed ID: 26711913

DOI: 10.1007/s00441-015-2346-x

PubMed ID: 26690653

Title: Loss of fibulin-4 results in abnormal collagen fibril assembly in bone, caused by impaired lysyl oxidase processing and collagen cross-linking.

PubMed ID: 26690653

DOI: 10.1016/j.matbio.2015.12.002

PubMed ID: 28508064

Title: Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.

PubMed ID: 28508064

DOI: 10.1126/sciadv.1602532

PubMed ID: 28717224

Title: Fibulin-4 deposition requires EMILIN-1 in the extracellular matrix of osteoblasts.

PubMed ID: 28717224

DOI: 10.1038/s41598-017-05835-7

Sequence Information:

Length: 443
Mass: 49425
Checksum: 4969C0328A23DD88
Sequence:

MLPFASCLPG SLLLWAFLLL LLGAASPQDP EEPDSYTECT DGYEWDADSQ HCRDVNECLT 
IPEACKGEMK CINHYGGYLC LPRSAAVISD LHGEGPPPPA AHAQQPNPCP QGYEPDEQES 
CVDVDECTQA LHDCRPSQDC HNLPGSYQCT CPDGYRKIGP ECVDIDECRY RYCQHRCVNL 
PGSFRCQCEP GFQLGPNNRS CVDVNECDMG APCEQRCFNS YGTFLCRCNQ GYELHRDGFS 
CSDIDECGYS SYLCQYRCVN EPGRFSCHCP QGYQLLATRL CQDIDECETG AHQCSEAQTC 
VNFHGGYRCV DTNRCVEPYV QVSDNRCLCP ASNPLCREQP SSIVHRYMSI TSERSVPADV 
FQIQATSVYP GAYNAFQIRS GNTQGDFYIR QINNVSAMLV LARPVTGPRE YVLDLEMVTM 
NSLMSYRASS VLRLTVFVGA YTF

Genular Protein ID: 1590527471

Symbol: G5E8D6_MOUSE

Name: N/A

UniProtKB Accession Codes:

G5E8D6

Database IDs:

Citations:

PubMed ID: 19468303

Title: Lineage-specific biology revealed by a finished genome assembly of the mouse.

PubMed ID: 19468303

DOI: 10.1371/journal.pbio.1000112

Sequence Information:

Length: 462
Mass: 51350
Checksum: 4A85A5A9191AF8C0
Sequence:

MGGAVAETPD FCPPPPSLRM LPFASCLPGS LLLWAFLLLL LGAASPQDPE EPDSYTECTD 
GYEWDADSQH CRDVNECLTI PEACKGEMKC INHYGGYLCL PRSAAVISDL HGEGPPPPAA 
HAQQPNPCPQ GYEPDEQESC VDVDECTQAL HDCRPSQDCH NLPGSYQCTC PDGYRKIGPE 
CVDIDECRYR YCQHRCVNLP GSFRCQCEPG FQLGPNNRSC VDVNECDMGA PCEQRCFNSY 
GTFLCRCNQG YELHRDGFSC SDIDECGYSS YLCQYRCVNE PGRFSCHCPQ GYQLLATRLC 
QDIDECETGA HQCSEAQTCV NFHGGYRCVD TNRCVEPYVQ VSDNRCLCPA SNPLCREQPS 
SIVHRYMSIT SERSVPADVF QIQATSVYPG AYNAFQIRSG NTQGDFYIRQ INNVSAMLVL 
ARPVTGPREY VLDLEMVTMN SLMSYRASSV LRLTVFVGAY TF

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: Efemp2

Associated with

Other Information

MBP1: a novel mutant p53-specific protein partner with oncogenic properties. PubMed ID: 10380882

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization. PubMed ID: 17324935

Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. PubMed ID: 16478991

Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase. PubMed ID: 19855011

Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression. PubMed ID: 20019329

Angiotensin-converting enzyme-induced activation of local angiotensin signaling is required for ascending aortic aneurysms in fibulin-4-deficient mice. PubMed ID: 23636094

Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms. PubMed ID: 25713297

Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations. PubMed ID: 26220971

Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities. PubMed ID: 26178373

Abnormal mechanosensing and cofilin activation promote the progression of ascending aortic aneurysms in mice. PubMed ID: 26486174

Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice. PubMed ID: 26711913

Loss of fibulin-4 results in abnormal collagen fibril assembly in bone, caused by impaired lysyl oxidase processing and collagen cross-linking. PubMed ID: 26690653

Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries. PubMed ID: 28508064

Fibulin-4 deposition requires EMILIN-1 in the extracellular matrix of osteoblasts. PubMed ID: 28717224

Lineage-specific biology revealed by a finished genome assembly of the mouse. PubMed ID: 19468303