FBLN5 gene homepage

General information
Gene symbol FBLN5
Gene name fibulin 5
Chromosome 14
Chromosomal band q31
Imprinted Unknown
Genomic reference LRG_364
Transcript reference NM_006329.3
Exon/intron information NM_006329.3 exon/intron table
Associated with diseases ADCL-2, ARCL-1A, ARMD, ARMD-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 37
Unique public DNA variants reported 18
Individuals with public variants 1494
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated March 23, 2020
Version FBLN5:200323

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006329.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/FBLN5
External URL Orphanet
HGNC 3602
Entrez Gene 10516
PubMed articles FBLN5
OMIM - Gene 604580
OMIM - Diseases ADCL-2 (cutis laxa, autosomal dominant, type 2 (ADCL-2))
ARCL-1A (cutis laxa, autosomal recessive, type IA (ARCL-1A))
ARMD-3 (macular degeneration, age-related, type 3 (ARMD-3))
GeneCards FBLN5
GeneTests FBLN5

Active transcripts




NCBI ID     

NCBI Protein ID     

00007759 14 fibulin 5 NM_006329.3 NP_006320.2 37

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.