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-inju... See more...

Aliases for FBLN5 Gene

Aliases for FBLN5 Gene

  • Fibulin 5 2 3 5
  • Developmental Arteries And Neural Crest EGF-Like Protein 3 4
  • Embryonic Vascular EGF-Like Repeat-Containing Protein 2 3
  • Urine P50 Protein 3 4
  • Fibulin-5 3 4
  • FIBL-5 3 4
  • DANCE 3 4
  • UP50 3 4
  • Developmental Arteries And Neural Crest EGF-Like 2
  • Testis Tissue Sperm-Binding Protein Li 75n 3
  • ARCL1A 3
  • HNARMD 3
  • ADCL2 3
  • ARMD3 3
  • Dance 4
  • 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 Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration and Cutis Laxa, Autosomal Recessive, Type Ia. Among its related pathways are MAPK-Erk Pathway and Degradation of the extracellular matrix. 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.

UniProtKB/Swiss-Prot Summary 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). May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).

Gene Wiki entry for FBLN5 Gene

Additional gene information for FBLN5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBLN5 Gene

Genomics for FBLN5 Gene

GeneHancer (GH) Regulatory Elements for FBLN5 Gene

Promoters and enhancers for FBLN5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J091944 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.4 1386 4 CTCF ZBTB26 RFX1 SP2 ZBTB17 POLR2A CEBPB ZFHX2 E2F1 ZNF335 FBLN5 lnc-TRIP11-2 NDUFB1 piR-38351-160
GH14J091869 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 16.8 +75.0 75004 7.5 TCF12 SP1 EP300 ZIC2 ATF2 TBX3 FOXA2 OSR2 BCL11A ZNF263 lnc-FBLN5-1 FBLN5 TC2N CATSPERB ENSG00000260711 lnc-TC2N-2
GH14J091896 Enhancer 1.1 Ensembl ENCODE dbSUPER 18.5 +50.6 50568 2.8 ZIC2 FOXA2 ZSCAN9 OSR2 NR2F2 KDM1A CEBPB NR3C1 ZBTB33 JUND FBLN5 TC2N PPP4R3A lnc-FBLN5-1 piR-61945-149
GH14J091864 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 10.1 +81.6 81562 4.5 ZIC2 ZNF423 OSR2 EBF1 SCRT1 PRDM6 FEZF1 TBX21 ZNF24 INSM2 TC2N lnc-TC2N-2 FBLN5 ENSG00000260711 CATSPERB HSALNG0103222
GH14J091979 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.1 -32.6 -32613 2.4 JUND FOS EP300 CUX1 BCL11A FOSL2 JUN USF1 FOSL1 BATF FBLN5 TRIP11 TC2N ATXN3 SLC24A4 PPP4R3A piR-50437-188 piR-50437-189
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBLN5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBLN5

Top Transcription factor binding sites by QIAGEN in the FBLN5 gene promoter:
  • AP-1
  • AREB6
  • ATF-2
  • c-Jun
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5

Genomic Locations for FBLN5 Gene

Genomic Locations for FBLN5 Gene
chr14:91,869,411-91,947,987
(GRCh38/hg38)
Size:
78,577 bases
Orientation:
Minus strand
chr14:92,335,755-92,414,331
(GRCh37/hg19)
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 (PubMed:15790312, PubMed:19617354), homodimerizes in presence of Ca(2+) (PubMed:19617354). Interacts with ELN (PubMed:17035250, PubMed:15790312). Interacts (via N-terminus) with the integrins ITGAV/ITGB3, ITGAV/ITGB5 and ITGA9/ITGB1 (By similarity). Interacts with FBN1 (via N-terminal domain). Forms a ternary complex with ELN and FBN1 (PubMed:17255108).

neXtProt entry for FBLN5 Gene

Post-translational modifications for FBLN5 Gene

  • N-glycosylated.
  • Glycosylation at Asn283 and Asn296
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FBLN5_HUMAN (1245)

No data available for DME Specific Peptides for FBLN5 Gene

Domains & Families for FBLN5 Gene

Gene Families for FBLN5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for FBLN5 Gene

Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FBLN5 Gene

GenScript: Design optimal peptide antigens:
  • Urine p50 protein (FBLN5_HUMAN)
  • cDNA FLJ90666 fis, clone PLACE1005383, highly similar to Fibulin-5 (Q6IAL4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBX5

UniProtKB/Swiss-Prot:

FBLN5_HUMAN :
  • Belongs to the fibulin family.
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

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). May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).
GENATLAS Biochemistry:
fibulin 5,calcium binding,expressed and up-regulated in the developing and disease adult arterial vasculature

Phenotypes From GWAS Catalog for FBLN5 Gene

Gene Ontology (GO) - Molecular Function for FBLN5 Gene

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
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

CRISPR Products

Clone Products

Cell Line 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBLN5 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 3
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBLN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,HDA --
GO:0005615 extracellular space IEA,HDA 20551380
GO:0031012 extracellular matrix TAS 10428823
GO:0062023 collagen-containing extracellular matrix IDA,HDA 17035250
GO:0070062 extracellular exosome HDA 23533145
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:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FBLN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IEA --
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion TAS 10428823
GO:0030198 extracellular matrix organization TAS --
GO:0034394 protein localization to cell surface 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

mRNA/cDNA for FBLN5 Gene

1 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for FBLN5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for FBLN5 Gene



Protein tissue co-expression partners for FBLN5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBLN5

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).

Evidence on tissue expression from TISSUES for FBLN5 Gene

  • Lung(4.7)
  • Liver(4.2)
  • Urine(4)
  • Skin(3.9)
  • Nervous system(3.7)
  • Spleen(3.6)
  • Heart(2.7)
  • Muscle(2.7)
  • Gall bladder(2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FBLN5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • chest wall
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FBLN5: view

Orthologs for FBLN5 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBLN5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBLN5 31 30
  • 99.78 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBLN5 31
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBLN5 31 30
  • 91.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FBLN5 31 30
  • 91.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fbln5 17 31 30
  • 89.36 (n)
rat
(Rattus norvegicus)
Mammalia Fbln5 30
  • 88.84 (n)
chicken
(Gallus gallus)
Aves FBLN5 31 30
  • 77.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBLN5 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fbln5 30
  • 73.03 (n)
zebrafish
(Danio rerio)
Actinopterygii fbln5 31 30
  • 64.85 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31999 31
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fbl-1 31
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 12 (a)
OneToMany
Species where no ortholog for FBLN5 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FBLN5: view image

Paralogs for FBLN5 Gene

Paralogs for FBLN5 Gene

(26) SIMAP similar genes for FBLN5 Gene using alignment to 7 proteins:

  • FBLN5_HUMAN
  • G3V2P8_HUMAN
  • G3V329_HUMAN
  • G3V3Y2_HUMAN
  • G3V4U0_HUMAN
  • G3XA98_HUMAN
  • H0YJ31_HUMAN
genes like me logo Genes that share paralogs with FBLN5: view

Variants for FBLN5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBLN5 Gene

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
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
671278 Likely Benign: not provided 91,947,825(-) A/C

Additional dbSNP identifiers (rs#s) for FBLN5 Gene

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)

Additional Variant Information for FBLN5 Gene

Human Gene Mutation Database (HGMD)
FBLN5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBLN5

SNP Genotyping and Copy Number Assay Products

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

Disorders for FBLN5 Gene

MalaCards: The human disease database

(41) MalaCards diseases for FBLN5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

FBLN5_HUMAN
  • Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895]: An autosomal dominant neuropathy of the Charcot-Marie-Tooth disease group, characterized by distal muscle weakness and atrophy variably affecting the lower and upper limbs. Distal sensory impairment and decreased nerve conduction velocities are present in most but not all patients. Additional variable features are age-related macular degeneration, joint hypermobility, and hyperelastic skin. {ECO:0000269 PubMed:21576112, ECO:0000269 PubMed:23328402}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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, ECO:0000269 PubMed:20007835, ECO:0000269 PubMed:20599547}. 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, ECO:0000269 PubMed:20007835, ECO:0000269 PubMed:20599547}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for FBLN5

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

No data available for Genatlas for FBLN5 Gene

Publications for FBLN5 Gene

  1. Common polymorphisms of Fibulin-5 and the risk of abdominal aortic aneurysm development. (PMID: 20133342) Badger SA … Hughes AE (Vascular medicine (London, England) 2010) 3 23 41 54
  2. Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. (PMID: 20007835) Jones RP … Trump D (Investigative ophthalmology & visual science 2010) 3 4 23 54
  3. An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. (PMID: 19194475) Mégarbané H … Fischer J (The Journal of investigative dermatology 2009) 3 4 23 54
  4. Fibulin 5 forms a compact dimer in physiological solutions. (PMID: 19617354) Jones RP … Trump D (The Journal of biological chemistry 2009) 3 4 23 54
  5. A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. (PMID: 18185537) Claus S … Damour O (The Journal of investigative dermatology 2008) 3 4 23 54

Products for FBLN5 Gene

Sources for FBLN5 Gene