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Aliases for FBLN5 Gene

Aliases for FBLN5 Gene

  • Fibulin 5 2 3 5
  • Developmental Arteries And Neural Crest EGF-Like Protein 3 4
  • Urine P50 Protein 3 4
  • FIBL-5 3 4
  • DANCE 3 4
  • UP50 3 4
  • Testis Tissue Sperm-Binding Protein Li 75n 3
  • ARCL1A 3
  • HNARMD 3
  • ADCL2 3
  • ARMD3 3
  • EVEC 3

External Ids for FBLN5 Gene

Previous GeneCards Identifiers for FBLN5 Gene

  • GC14M089841
  • GC14M086151
  • GC14M090325
  • GC14M091405
  • GC14M092335
  • GC14M072518

Summaries for FBLN5 Gene

Entrez Gene Summary for FBLN5 Gene

  • 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]

GeneCards Summary for FBLN5 Gene

FBLN5 (Fibulin 5) is a Protein Coding gene. Diseases associated with FBLN5 include macular degeneration, age-related, 3 and cutis laxa, autosomal recessive, type ia. Among its related pathways are Elastic fibre formation and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and transmembrane signaling receptor activity. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot for FBLN5 Gene

  • Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823).

Gene Wiki entry for FBLN5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBLN5 Gene

Genomics for FBLN5 Gene

Regulatory Elements for FBLN5 Gene

Enhancers for FBLN5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FBLN5 on UCSC Golden Path with GeneCards custom track

Promoters for FBLN5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FBLN5 on UCSC Golden Path with GeneCards custom track

Genomic Location for FBLN5 Gene

Chromosome:
14
Start:
91,869,411 bp from pter
End:
91,947,987 bp from pter
Size:
78,577 bases
Orientation:
Minus strand

Genomic View for FBLN5 Gene

Genes around FBLN5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBLN5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBLN5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBLN5 Gene

Proteins for FBLN5 Gene

  • Protein details for FBLN5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBX5-FBLN5_HUMAN
    Recommended name:
    Fibulin-5
    Protein Accession:
    Q9UBX5
    Secondary Accessions:
    • O75966
    • Q6IAL4
    • Q6UWA3

    Protein attributes for FBLN5 Gene

    Size:
    448 amino acids
    Molecular mass:
    50180 Da
    Quaternary structure:
    • Homodimer (PubMed:20007835). Monomer, homodimerizes in presence of Ca(2+) (PubMed:19617354). Interacts with ELN (PubMed:17035250). Interacts (via N-terminus) with the integrins ITGAV/ITGB3, ITGAV/ITGB5 and ITGA9/ITGB1 (By similarity).

neXtProt entry for FBLN5 Gene

Proteomics data for FBLN5 Gene at MOPED

Post-translational modifications for FBLN5 Gene

Other Protein References for FBLN5 Gene

Antibody Products

  • R&D Systems Antibodies for FBLN5 (Fibulin 5/DANCE)

No data available for DME Specific Peptides for FBLN5 Gene

Domains & Families for FBLN5 Gene

Gene Families for FBLN5 Gene

Suggested Antigen Peptide Sequences for FBLN5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBX5

UniProtKB/Swiss-Prot:

FBLN5_HUMAN :
  • Contains 6 EGF-like domains.
  • Belongs to the fibulin family.
Domain:
  • Contains 6 EGF-like domains.
Family:
  • Belongs to the fibulin family.
genes like me logo Genes that share domains with FBLN5: view

Function for FBLN5 Gene

Molecular function for FBLN5 Gene

GENATLAS Biochemistry:
fibulin 5,calcium binding,expressed and up-regulated in the developing and disease adult arterial vasculature
UniProtKB/Swiss-Prot Function:
Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823).

Gene Ontology (GO) - Molecular Function for FBLN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 17035250
genes like me logo Genes that share ontologies with FBLN5: view
genes like me logo Genes that share phenotypes with FBLN5: view

Human Phenotype Ontology for FBLN5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FBLN5 Gene

MGI Knock Outs for FBLN5:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FBLN5 Gene

Localization for FBLN5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBLN5 Gene

Secreted. Secreted, extracellular space, extracellular matrix. Note=co-localizes with ELN in elastic fibers. {ECO:0000269 PubMed:17035250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FBLN5 Gene COMPARTMENTS Subcellular localization image for FBLN5 gene
Compartment Confidence
extracellular 5
cytosol 3
plasma membrane 3

Gene Ontology (GO) - Cellular Components for FBLN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071953 colocalizes_with elastic fiber IEA,ISS --
genes like me logo Genes that share ontologies with FBLN5: view

Pathways & Interactions for FBLN5 Gene

genes like me logo Genes that share pathways with FBLN5: view

Pathways by source for FBLN5 Gene

SIGNOR curated interactions for FBLN5 Gene

Activates:

Gene Ontology (GO) - Biological Process for FBLN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion TAS 10428823
GO:0048251 elastic fiber assembly IEA,ISS --
genes like me logo Genes that share ontologies with FBLN5: view

Drugs & Compounds for FBLN5 Gene

(1) Additional Compounds for FBLN5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FBLN5: view

Transcripts for FBLN5 Gene

Unigene Clusters for FBLN5 Gene

Fibulin 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FBLN5 Gene

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:

Relevant External Links for FBLN5 Gene

GeneLoc Exon Structure for
FBLN5
ECgene alternative splicing isoforms for
FBLN5

Expression for FBLN5 Gene

mRNA expression in normal human tissues for FBLN5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBLN5 Gene

This gene is overexpressed in Artery - Aorta (x9.3).

Protein differential expression in normal tissues from HIPED for FBLN5 Gene

This gene is overexpressed in Testis (57.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FBLN5 Gene



SOURCE GeneReport for Unigene cluster for FBLN5 Gene Hs.332708

mRNA Expression by UniProt/SwissProt for FBLN5 Gene

Q9UBX5-FBLN5_HUMAN
Tissue specificity: Expressed in skin fibroblasts (at protein level)(PubMed:17035250). Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and placenta. Not detectable in brain, liver, thymus, prostate, or peripheral blood leukocytes (PubMed:10428823).
genes like me logo Genes that share expression patterns with FBLN5: view

Protein tissue co-expression partners for FBLN5 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for FBLN5 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBLN5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FBLN5 35
  • 91.67 (n)
  • 96.87 (a)
FBLN5 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBLN5 35
  • 91.29 (n)
  • 96.87 (a)
FBLN5 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbln5 35
  • 89.36 (n)
  • 94.2 (a)
Fbln5 16
Fbln5 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FBLN5 35
  • 99.78 (n)
  • 100 (a)
FBLN5 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbln5 35
  • 88.84 (n)
  • 94.2 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia FBLN5 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBLN5 35
  • 77.55 (n)
  • 84.23 (a)
FBLN5 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBLN5 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbln5 35
  • 73.03 (n)
  • 74.71 (a)
zebrafish
(Danio rerio)
Actinopterygii fbln5 35
  • 64.85 (n)
  • 65.08 (a)
fbln5 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31999 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fbl-1 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 12 (a)
OneToMany
Species with no ortholog for FBLN5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FBLN5 Gene

ENSEMBL:
Gene Tree for FBLN5 (if available)
TreeFam:
Gene Tree for FBLN5 (if available)

Paralogs for FBLN5 Gene

Paralogs for FBLN5 Gene

genes like me logo Genes that share paralogs with FBLN5: view

Variants for FBLN5 Gene

Sequence variations from dbSNP and Humsavar for FBLN5 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs28939370 Cutis laxa, autosomal recessive, 1A (ARCL1A) 91,887,253(-) ACGGC(C/T)CTTTC reference, missense
VAR_019814 Macular degeneration, age-related, 3 (ARMD3)
VAR_019815 Macular degeneration, age-related, 3 (ARMD3)
VAR_019816 Macular degeneration, age-related, 3 (ARMD3)
rs28939072 Macular degeneration, age-related, 3 (ARMD3) 91,891,334(-) AGACA(C/T)TGATG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FBLN5 Gene

Variant ID Type Subtype PubMed ID
esv275270 CNV Loss 21479260
nsv523266 CNV Loss 19592680

Variation tolerance for FBLN5 Gene

Residual Variation Intolerance Score: 27.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBLN5 Gene

HapMap Linkage Disequilibrium report
FBLN5
Human Gene Mutation Database (HGMD)
FBLN5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBLN5 Gene

Disorders for FBLN5 Gene

MalaCards: The human disease database

(24) MalaCards diseases for FBLN5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
macular degeneration, age-related, 3
  • age-related macular degeneration 3
cutis laxa, autosomal recessive, type ia
  • cutis laxa, autosomal recessive, 1a
cutis laxa, autosomal dominant 2
  • cutis laxa, autosomal dominant, 2
cutis laxa, autosomal dominant
  • adcl
cutis laxa, autosomal recessive type 1
  • cutis laxa, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search FBLN5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FBLN5_HUMAN
  • Cutis laxa, autosomal dominant, 2 (ADCL2) [MIM:614434]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. {ECO:0000269 PubMed:12618961}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. {ECO:0000269 PubMed:12189163, ECO:0000269 PubMed:16652333, ECO:0000269 PubMed:16691202, ECO:0000269 PubMed:17035250, ECO:0000269 PubMed:18185537}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations affecting this gene can modify the phenotype of diseases caused by ELN mutations. {ECO:0000269 PubMed:19194475}.
  • Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:15269314, ECO:0000269 PubMed:16652333}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for FBLN5

Genetic Association Database (GAD)
FBLN5
Human Genome Epidemiology (HuGE) Navigator
FBLN5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBLN5
genes like me logo Genes that share disorders with FBLN5: view

No data available for Genatlas for FBLN5 Gene

Publications for FBLN5 Gene

  1. Missense variations in the fibulin 5 gene and age-related macular degeneration. (PMID: 15269314) Stone E.M. … Sheffield V.C. (N. Engl. J. Med. 2004) 3 4 48 67
  2. Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in situ hybridization and radiation hybrid mapping. (PMID: 10640802) Kowal R.C. … Schultz R.A. (Cytogenet. Cell Genet. 1999) 2 3 23
  3. Common polymorphisms of Fibulin-5 and the risk of abdominal aortic aneurysm development. (PMID: 20133342) Badger S.A. … Hughes A.E. (Vasc Med 2010) 3 23
  4. Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. (PMID: 20007835) Jones R.P. … Trump D. (Invest. Ophthalmol. Vis. Sci. 2010) 3 23
  5. Fibulin-5 expression is decreased in women with anterior vaginal wall prolapse. (PMID: 18989607) Takacs P. … Medina C.A. (Int Urogynecol J Pelvic Floor Dysfunct 2009) 3 23

Products for FBLN5 Gene

Sources for FBLN5 Gene

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