Sequence Detail

ID/Version

Q9WVJ9 (UniProt | EBI)

Last sequence update: 1999-11-01
Last annotation update: 2024-03-27

Sequence description from provider

RecName: Full=EGF-containing fibulin-like extracellular matrix protein 2 {ECO:0000305};AltName: Full=Fibulin-4 {ECO:0000303|PubMed:16478991}; Short=FIBL-4;AltName: Full=Mutant p53-binding protein 1;Flags: Precursor;

Provider

SWISS-PROT

Sequence

Polypeptide 443 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Efemp2	epidermal growth factor-containing fibulin-like extracellular matrix protein 2	37	103	4	13

Sequence references in MGI

J:65051 Gallagher WM, et al., MBP1: a novel mutant p53-specific protein partner with oncogenic properties. Oncogene. 1999 Jun 17;18(24):3608-16
J:106902 McLaughlin PJ, et al., Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. Mol Cell Biol. 2006 Mar;26(5):1700-9
J:121136 Kobayashi N, et al., A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization. J Biol Chem. 2007 Apr 20;282(16):11805-16
J:154659 Horiguchi M, et al., Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase. Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19029-34
J:170883 Huang J, et al., Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression. Circ Res. 2010 Feb 19;106(3):583-92
J:213282 Huang J, et al., Angiotensin-converting enzyme-induced activation of local angiotensin signaling is required for ascending aortic aneurysms in fibulin-4-deficient mice. Sci Transl Med. 2013 May 1;5(183):183ra58, 1-11
J:221200 Bultmann-Mellin I, et al., Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms. Dis Model Mech. 2015 Apr;8(4):403-15
J:223792 Igoucheva O, et al., 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. J Biol Chem. 2015 Aug 28;290(35):21443-21459
J:226034 Papke CL, et al., Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations. Hum Mol Genet. 2015 Oct 15;24(20):5867-79
J:232351 Sasaki T, et al., Loss of fibulin-4 results in abnormal collagen fibril assembly in bone, caused by impaired lysyl oxidase processing and collagen cross-linking. Matrix Biol. 2016 Mar;50:53-66
J:258180 Halabi CM, et al., Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries. Sci Adv. 2017 May;3(5):e1602532
J:259726 Yamashiro Y, et al., Abnormal mechanosensing and cofilin activation promote the progression of ascending aortic aneurysms in mice. Sci Signal. 2015 Oct 20;8(399):ra105
J:261872 Markova DZ, et al., Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice. Cell Tissue Res. 2016 Jun;364(3):637-46
J:297323 Schiavinato A, et al., Fibulin-4 deposition requires EMILIN-1 in the extracellular matrix of osteoblasts. Sci Rep. 2017 Jul 17;7(1):5526