FBLN5 Gene
protein-coding GIFtS : 66
GCID: GC14 M092335
fibulin 5
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Aliasesfor FBLN5 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Fibulin 5 1 2 Urine P50 Protein2 3 DANCE1 2 3 FIBL-52 3 UP501 2 3 ADCL22 ARMD31 2 5 ARCL1A2 EVEC1 2 Fibulin-51 Developmental Arteries And Neural Crest EGF-Like Protein2 3 Dance3
Export aliases for FBLN5 gene to outside databases Previous GC identifers: GC14M089841 GC14M086151 GC14M090325 GC14M091405 GC14M072518
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Summariesfor FBLN5 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for FBLN5 : 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) UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5 Function : Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Could be avascular ligand for integrin receptors and may play a role in vascular development and remodeling Gene Wiki entry for FBLN5
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Genomic Viewsfor FBLN5 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000014.8 NC_018925.1 NT_026437.12 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the FBLN5 gene promoter: E2F-4 E2F-3a E2F-5 AP-1 ATF-2 E2F-2 AREB6 E2F E2F-1 c-Jun Other transcription factors Search SABiosciences Chromatin IP Primers for FBLN5 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat FBLN5
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 14q32.1 Ensembl cytogenetic band: 14q32.12 HGNC cytogenetic band: 14q31 FBLN5 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 14 GeneLoc Exon Structure
GeneLoc location for GC14M092335: view genomic region
(about GC identifiers )
Start:
92,335,755 bp from pter
End:
92,414,331 bp from pter
Size:
78,577 bases
Orientation:
minus strand
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Proteinsfor FBLN5 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5 (See
protein sequence )Recommended Name: Fibulin-5 precursor Size : 448 amino acids; 50180 Da
Subunit : Homodimer
Subcellular location : Secreted
Secondary accessions : O75966 Q6IAL4 Q6UWA3Explore the universe of human proteins at neXtProt for FBLN5: NX_Q9UBX5 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9UBX5 FBLN5 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_006320.2 ENSEMBL proteins: ENSP00000267620 ENSP00000345008 ENSP00000451982 ENSP00000450719 ENSP00000451002 ENSP00000451486 ENSP00000450787 Reactome Protein details: Q9UBX5 Human Recombinant Protein Products for FBLN5: Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7 ): About this table
FBLN5 for ontologies About GeneDecksing FBLN5 Antibody Products: Assay Products for FBLN5:
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Protein
Domains / Familiesfor FBLN5 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
FBLN5 for domains About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry Q9UBX5 ProtoNet protein and cluster: Q9UBX5
2 Blocks protein families : IPB000152 Aspartic acid and asparagine hydroxylation site IPB001881 EGF-like calcium-binding UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5 Similarity : Belongs to the fibulin familySimilarity : Contains 6 EGF-like domains
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Functionfor FBLN5 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: FBLN5_HUMAN, Q9UBX5 Function : Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Could be avascular ligand for integrin receptors and may play a role in vascular development and remodeling
Genatlas biochemistry entry for FBLN5 : fibulin 5,calcium binding,expressed and up-regulated in the developing and disease adult arterial vasculature Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view) : About this table
FBLN5 for ontologies About GeneDecksing Phenotypes: 2 GenomeRNAi human phenotypes for FBLN5 : 8 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Fbln5) :
FBLN5 for phenotypes About GeneDecksing Animal Models: Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for FBLN5 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for FBLN5OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: FBLN5 (NM_006329 ) Sino Biological Human cDNA Clone for FBLN5 DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FBLN5 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat FBLN5
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLN5
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Pathways & Interactionsfor FBLN5 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 Elastic fibre formation 2 Collagen formation
Pathway sources See GeneCards unified pathways Show all pathways 3
Reactome Pathways for FBLN5
FBLN5 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FBLN5 STRING Interaction
Network Preview (showing 5 interactants - click image to see 11)5/19 Interacting proteins for FBLN5 (Q9UBX5 1 , 2 , 3 ENSP00000345008 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 19 )About this table Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7 ): About this table
FBLN5 for ontologies About GeneDecksing
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Drugs & Compoundsfor FBLN5 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
FBLN5 for compounds About GeneDecksing Browse Tocris compounds for FBLN5 1 Novoseek chemical compound relationship for FBLN5 gene About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
vegf
0
3
15231070 (3)
Search CenterWatch for drugs/clinical trials and news about FBLN5
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Transcriptsfor FBLN5 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for FBLN5 gene: NM_006329.3 Unigene Cluster for FBLN5:
Fibulin 5 Hs.332708 [show with all ESTs ] Unigene Representative Sequence: BX537531 9 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000556961 (uc001xzw.3 ) ENST00000267620 (uc010aud.3 uc001xzx.4 uc010aue.3 )ENST00000342058 ENST00000556154 ENST00000554121 ENST00000557088 ENST00000557462 ENST00000554468 ENST00000557570 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for FBLN5 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for FBLN5OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: FBLN5 (NM_006329 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FBLN5 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat FBLN5
Additional cDNA sequence: AF093118.1 AF112152.1 AJ133490.1 AK074540.1 AK075147.1 AK094032.1 AK125600.1 AK307592.1 AL110148.1 AY358898.1 BC022280.1 BX248290.1 BX537531.1 CR457140.1
22 DOTS entries : DT.101956801 DT.448201
DT.97838719 DT.100833145 DT.100811307 DT.100678061 DT.100811302 DT.120761189 DT.95278027 DT.99971149 DT.100026316 DT.120761247 DT.95278026 DT.120761239 DT.120761224 DT.120761227 DT.120761234 DT.100708071 DT.100835411 DT.120761213 DT.40294682 DT.120761238 24/316 AceView cDNA sequences (see all 316 ):
BM544363 BM970136 NM_006329 BQ723059 BQ716569 BC022280 AA385728 BX641994 AK075147 AA605252 AI656035 AI796573 AI834283 CA397139 AA298909 BP377490 CD172152 BM666348 AI086653 CR604352 BQ772930 F08964 AI215116 AW183044 GeneLoc Exon Structure 5/14 Alternative Splicing Database (ASD) splice patterns (SP) for FBLN5 (see all 14 ) About this scheme 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 :                                   -                  
ExUns: 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b SP1 :         -     -       SP2 :                   SP3 :                   SP4 :                   SP5 :                  
ECgene alternative splicing isoforms for FBLN5
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Expression for FBLN5 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section FBLN5 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: CTATGTTCTGAbout this image FBLN5 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
10/17 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 17 ) Tissue Anatomical Compartment
Cell Category (developmental path) Cartilage Cervical Intervertebral Disc Intervertebral Disc Annulus Fibrosus Cells Cartilage Cartilage Lumbar Intervertebral Disc Intervertebral Disc Annulus Fibrosus Cells Cartilage Cartilage Sacral Intervertebral Disc Intervertebral Disc Annulus Fibrosus Cells Cartilage Cartilage Thoracic Intervertebral Disc Intervertebral Disc Annulus Fibrosus Cells Cartilage Head Mesenchyme Branchial Arch 1 Cranial Neural Crest Cells Neural Crest Ovary Antral Follicle Cumulus Cells Ovary Skeletal Muscle Hyoid Arch Muscles Myoblasts Skeletal Muscle Skeletal Muscle Mandibular Arch Muscles Myoblasts Skeletal Muscle Bone Rostral Endochondral Facial Bones Bone Bone Rostral Skull Membranous Bones Bone Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
Stem Cell Differentiation: 10/12 LifeMap Cells (see all 12 ) Name Category PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage Trophoblast-like cells (Generation of tropho... )Definitive endoderm-like cells (A scalable, suspensi... )HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in... )Bone, Cartilage HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in... )Bone, Cartilage HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in... )Bone, Cartilage TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+... )Bone, Cartilage HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in... )Bone HyStem+TGF?3+GDF5-induced 4D20.8 cells (HyStem+TGF?3+GDF5 in... )Bone, Cartilage
See FBLN5 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for FBLN5 SOURCE GeneReport for Unigene cluster: Hs.332708 UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5 Tissue specificity : Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung andplacenta. Not detectable in brain, liver, thymus, prostate, or peripheral blood leukocytes SABiosciences Custom PCR Arrays for FBLN5 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for FBLN5Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat FBLN5 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat FBLN5 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat FBLN5 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLN5
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Orthologsfor FBLN5 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for FBLN5 gene from 5/19 species (see all 19 ) About this table
ENSEMBL Gene Tree for FBLN5 (if available)TreeFam Gene Tree for FBLN5 (if available)
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Paralogsfor FBLN5 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for FBLN5 gene FBN1 2 LTBP3 2 SCUBE3 2 FBN3 2 FBN2 2 LTBP4 2 EFEMP1 2 SCUBE1 2 EFEMP2 2 LTBP2 2 LTBP1 2 FBLN2 2 FBLN1 2 SCUBE2 2 18/28 SIMAP similar genes for FBLN5 using alignment to 7 protein entries: FBLN5_HUMAN (see all proteins )
(see all similar genes ):SNRPF COQ5 KIAA1651 pp12301 SH2B3 NCKAP1L MBP1 GEMIN6 PFKFB3 EFEMP2 FCER1G GATC PROS1 EFEMP1 C12orf76 MST132 ATF1 TUBA1C
FBLN5 for paralogs About GeneDecksing
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Genomic Variantsfor FBLN5 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 14 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for FBLN5 (92335755 - 92414331 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for FBLN5: -- Human Gene Mutation Database (HGMD) : FBLN5 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing FBLN5
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Disorders
/ Diseasesfor FBLN5 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
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FBLN5 for disorders About GeneDecksing OMIM gene information: 604580 OMIM disorders : 219100 123700 608895 UniProtKB/Swiss-Prot: FBLN5_HUMAN, Q9UBX5
Defects in FBLN5 are the cause of cutis laxa, autosomal dominant, type 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 Defects in FBLN5 are a cause of cutis laxa, autosomal recessive, type 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 Defects in FBLN5 are the cause of age-related macular degeneration type 3 (ARMD3) [MIM:608895]. ARMD is a multifactorial 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 (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane 20/27 diseases for FBLN5 (see all 27 ): About MalaCards cutis laxa age related macular degeneration macular degeneration cutis laxa, autosomal dominant lymph node tuberculosis contractural arachnodactyly supravalvular aortic stenosis connective tissue disease costello syndrome portal hypertension aortic aneurysm scoliosis keloids alopecia vaginitis tuberculosis hypertension ovarian carcinoma periodontitis pharyngitis 2 diseases from the University of Copenhagen DISEASES database for FBLN5 :Cutis laxa Age related macular degeneration 4 Novoseek disease relationships for FBLN5 gene About this table
GeneTests: FBLN5 FBLN5-Related Cutis Laxa Genetic Association Database (GAD): FBLN5 Human Genome Epidemiology (HuGE) Navigator: FBLN5 (8 documents) Export disorders for FBLN5 gene to outside databases
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Publicationsfor FBLN5 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for FBLN5 gene, integrated from 9 sources (see all 101 ): (articles sorted by number of sources associating them with FBLN5) Utopia : connect your pdf to the dynamic world of online information
Missense variations in the fibulin 5 gene and age-related macular degeneration. (PubMed id 15269314) 1 , 2 , 4 Stone E.M.... Sheffield V.C. (2004) DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries. (PubMed id 10428823) 1 , 2 , 9 Nakamura T.... Honjo T. (1999) Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. (PubMed id 12189163) 1 , 2 , 9 Loeys B.... de Paepe A. (2002) Fibulin 5 forms a compact dimer in physiological solu tions. (PubMed id 19617354) 1 , 2 , 9 Jones R.P....Trump D. (2009) Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. (PubMed id 12618961) 1 , 2 , 9 Markova D.... Chu M.-L. (2003) Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in situ hybridization and radiation hybrid mapping. (PubMed id 10640802) 1 , 3, 9 Kowal R.C....Schultz R.A. (1999) Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. (PubMed id 16691202) 1 , 2 , 9 Elahi E.... Loeys B. (2006) Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743) 1 , 2 Otsuki T....Isogai T. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309) 1 , 2 Clark H.F.... Gray A.M. (2003)
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External Searches for FBLN5 gene
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Specialized Databases showing FBLN5 gene (According to PharmGKB ,
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PharmGKB entry for FBLN5 Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBLN5
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About This Section Patent Information for FBLN5 gene: Search GeneIP for patents involving FBLN5 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor FBLN5 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
OriGene Antibodies for FBLN5 OriGene shRNA RFP for FBLN5 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for FBLN5 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for FBLN5 OriGene Protein Over-expression Lysate for FBLN5 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for FBLN5 OriGene 3'-UTR Clone for FBLN5 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for FBLN5 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for FBLN5 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for FBLN5 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat FBLN5
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