QuickView for FBLN5;jsessionid=2BFAAD2547C8B3150428928DF41B54EF (gene)

Gene Symbol:

FBLN5 Homo sapiens

Full name:

fibulin 5

Synonyms:

ADCL2, ARCL1A, ARMD3, DANCE, EVEC, FIBL-5, HNARMD, UP50, fibulin-5, developmental arteries and neural crest EGF-like protein, testis tissue sperm-binding protein Li 75n, urine p50 protein

Genomic Location:

Chr 14: 91405508-91483788

Description:

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 expressio...

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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).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTTTGAG_MIR373 ,  AREB6_04 ,  TGACCTY_ERR1_Q2 ,  WTGAAAT_UNKNOWN ,  TATAAA_TATA_01 ,  RGAANNTTC_HSF1_01 ,  SOX9_B1 ,  TST1_01 ,  RAAGNYNNCTTY_UNKNOWN ,  RTTTNNNYTGGM_UNKNOWN ,  PAX3_B ,  ELF1_Q6

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Cytogenetic Map:

14q32.12

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