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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]
FBLN5 (Fibulin 5) is a Protein Coding gene. Diseases associated with FBLN5 include Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration and Cutis Laxa, Autosomal Recessive, Type Ia. Among its related pathways are Degradation of the extracellular matrix and Autophagy Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and transmembrane signaling receptor activity. An important paralog of this gene is EFEMP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005178 | integrin binding | TAS,ISS | -- |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 15790312 |
GO:0008022 | protein C-terminus binding | IPI | 15528465 |
GO:0030023 | extracellular matrix constituent conferring elasticity | RCA | 20551380 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005615 | extracellular space | IEA,HDA | 20551380 |
GO:0031012 | extracellular matrix | TAS | 10428823 |
GO:0062023 | collagen-containing extracellular matrix | HDA,IDA | 17035250 |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | MAPK Erk Pathway |
.32
|
|
2 | Elastic fibre formation | ||
3 | Autophagy Pathway | ||
4 | Degradation of the extracellular matrix |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0001558 | regulation of cell growth | IEA | -- |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007160 | cell-matrix adhesion | TAS | 10428823 |
GO:0016525 | negative regulation of angiogenesis | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | · | 2f | · | 2g | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: |
ExUns: | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | |||||||||||||||||
SP3: | |||||||||||||||||
SP4: | |||||||||||||||||
SP5: | |||||||||||||||||
SP6: | |||||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: | |||||||||||||||||
SP11: | |||||||||||||||||
SP12: | |||||||||||||||||
SP13: | - | ||||||||||||||||
SP14: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FBLN5 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FBLN5 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FBLN5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FBLN5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fbln5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fbln5 30 |
|
||
Chicken (Gallus gallus) |
Aves | FBLN5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FBLN5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fbln5 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fbln5 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG31999 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | fbl-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636427 | Uncertain Significance: not provided | 91,887,286(-) | G/C | MISSENSE_VARIANT | |
667236 | Uncertain Significance: not specified | 91,870,253(-) | G/A | MISSENSE_VARIANT | |
668458 | Likely Benign: not provided | 91,891,211(-) | C/T | INTRON_VARIANT | |
668620 | Likely Benign: not provided | 91,894,984(-) | G/A | SYNONYMOUS_VARIANT | |
669782 | Likely Benign: not provided | 91,936,672(-) | T/C | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuropathy, hereditary, with or without age-related macular degeneration |
|
|
cutis laxa, autosomal recessive, type ia |
|
|
cutis laxa, autosomal dominant 2 |
|
|
autosomal recessive cutis laxa type i |
|
|
cutis laxa, autosomal dominant 1 |
|