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EFEMP1 GeneEGF containing fibulin-like extracellular matrix protein 1 This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009] |
EFEMP2 GeneEGF containing fibulin-like extracellular matrix protein 2 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 encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011] |
FBLN2 Genefibulin 2 This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
FBLN1 Genefibulin 1 Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008] |
FBLN7 Genefibulin 7 Predicted to enable calcium ion binding activity; heparan sulfate proteoglycan binding activity; and heparin binding activity. Predicted to be involved in cell adhesion. Located in focal adhesion. [provided by Alliance of Genome Resources, Mar 2025] |
FBLN5 Genefibulin 5 The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008] |
Fibulin-1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fibulin-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
fibulin Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term fibulin in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
G2 nidogen/fibulin G2F Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the G2 nidogen/fibulin G2F protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
EGF-containing fibulin-like extracellular matrix protein 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the EGF-containing fibulin-like extracellular matrix protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Anaphylatoxin/fibulin Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphylatoxin/fibulin protein domain from the InterPro Predicted Protein Domain Annotations dataset. |