Aliases for FBLN5 Gene
Aliases for FBLN5 Gene
External Ids for FBLN5 Gene
- HGNC: 3602
- Entrez Gene: 10516
- Ensembl: ENSG00000140092
- OMIM: 604580
- UniProtKB: Q9UBX5
Previous GeneCards Identifiers for FBLN5 Gene
- GC14M089841
- GC14M086151
- GC14M090325
- GC14M091405
- GC14M092335
- GC14M072518
Summaries 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 MAPK-Erk Pathway. 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 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).
No data available for CIViC summary , 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBLN5 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 14q32.12 by Ensembl
- 14q32.12 by Entrez Gene
- 14q32.12 by HGNC
FBLN5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for FBLN5 Gene
Post-translational modifications for FBLN5 Gene
- N-glycosylated.
- Glycosylation at Asn283 and Asn296
- Modification sites at PhosphoSitePlus
Other Protein References for FBLN5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for FBLN5
- R&D Systems Antibodies for FBLN5 (Fibulin 5/DANCE)
-
Custom Antibody ServicesOriGene Antibodies for FBLN5
- Novus Biologicals Antibodies for FBLN5
-
Cloud-Clone Corp. Antibodies for FBLN5
- Invitrogen Antibodies for FBLN5
- antibodies-online Antibodies for FBLN5: See all 125
- GeneTex FBLN5 antibody for FBLN5
-
Santa Cruz Biotechnology (SCBT) Antibodies for FBLN5
Protein Products
- R&D Systems Proteins and Enzymes for FBLN5 (Fibulin 5/DANCE)
-
OriGene Purified Proteins for FBLN5
- Search Origene for MassSpec and Protein Over-expression Lysates for FBLN5
- Origene Custom Protein Services for FBLN5
-
Cloud-Clone Corp. Proteins for FBLN5
- antibodies-online Proteins for FBLN5: See all 19
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FBLN5
No data available for DME Specific Peptides for FBLN5 Gene
Domains & Families for FBLN5 Gene
Gene Families for FBLN5 Gene
- HGNC:
Protein Domains for FBLN5 Gene
Suggested Antigen Peptide Sequences for FBLN5 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UBX5- Family:
-
- Belongs to the fibulin family.
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). May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).
| 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:0042803 | protein homodimerization activity | IDA | 19617354 |
Phenotypes for FBLN5 Gene
- MGI mutant phenotypes for FBLN5:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for FBLN5:
-
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Dynamic nuclei (hole, folded or small irregular)
- Effect on mitosis
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased viability with paclitaxel
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for FBLN5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FBLN5 gene
- Search ViGene Biosciences for FBLN5
CRISPR Products
-
OriGene CRISPR knockouts for FBLN5
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBLN5
- GenScript: Design CRISPR guide RNA sequences for FBLN5
miRNA for FBLN5 Gene
- miRTarBase miRNAs that target FBLN5
-
- hsa-mir-200c-3p (MIRT006770)
- hsa-mir-335-5p (MIRT018518)
- hsa-mir-26b-5p (MIRT029864)
- hsa-mir-3190-3p (MIRT460750)
- hsa-mir-6077 (MIRT460751)
- hsa-mir-542-3p (MIRT460752)
- hsa-mir-7-5p (MIRT460753)
- hsa-mir-7854-3p (MIRT460754)
- hsa-mir-6770-5p (MIRT460755)
- hsa-mir-3185 (MIRT460756)
- hsa-mir-2277-3p (MIRT460757)
- hsa-mir-3681-3p (MIRT460758)
- hsa-mir-216a-3p (MIRT460759)
- hsa-mir-128-3p (MIRT460760)
- hsa-mir-4433b-3p (MIRT460761)
- hsa-mir-3120-3p (MIRT460762)
miRNA Products
- Search ViGene Biosciences for FBLN5
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBLN5
- Browse OriGene Inhibitory RNA Products For FBLN5
-
ViGene Biosciences ready-to-package AAV shRNAs for FBLN5 gene
Clone Products
-
OriGene ORF clones in human for FBLN5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FBLN5
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
- ESI BIO PureStem ES-210, Ecto-ntu Progenitor for FBLN5
-
Horizon Cell Lines for FBLN5
-
ViGene Biosciences adenoviral particle packaged cDNA for FBLN5 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FBLN5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FBLN5 gene
Flow Cytometry 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}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 3 |
| cytosol | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005578 | proteinaceous extracellular matrix | TAS,IEA | -- |
| GO:0005615 | extracellular space | IDA | 20551380 |
| GO:0031012 | colocalizes_with extracellular matrix | IDA | 20551380 |
| GO:0070062 | extracellular exosome | IDA | 23376485 |
Pathways & Interactions for FBLN5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | MAPK-Erk Pathway |
.38
|
|
| 2 | Elastic fibre formation | ||
| 3 | Degradation of the extracellular matrix | ||
Pathways by source for FBLN5 Gene
2 Sino Biological pathways for FBLN5 Gene
3 Reactome pathways for FBLN5 Gene
Interacting Proteins for FBLN5 Gene
Selected Interacting proteins:
Q9UBX5-FBLN5_HUMAN
ENSP00000345008
for FBLN5 Gene via
UniProtKB
IID
STRING
MINT
| 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 | -- |
Transcripts for FBLN5 Gene
mRNA/cDNA for FBLN5 Gene
- (6) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (316) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for FBLN5
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBLN5
- GenScript: Design CRISPR guide RNA sequences for FBLN5
miRNA Products
- Search ViGene Biosciences for FBLN5
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBLN5
- Browse OriGene Inhibitory RNA Products For FBLN5
-
ViGene Biosciences ready-to-package AAV shRNAs for FBLN5 gene
Clone Products
-
OriGene ORF clones in human for FBLN5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FBLN5
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| 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: |
Expression for FBLN5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Cartilage (Muscoskeletal System)
- Bone (Muscoskeletal System)
-
Ovary (Reproductive System)
- Cumulus Cells Antral Follicle
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Brain (Nervous System)
- Endothelial Cells Blood Brain Barrier
- Oligodendrocyte-like cells(Najm FJ et. al. 2011)
-
Head Mesenchyme (Muscoskeletal System)
- Cranial Neural Crest Cells Branchial Arch 1
-
Neural Crest (Gastrulation Derivatives)
- Cranial Neural Crest Cells Branchial Arch 1
-
Endothelium (Cardiovascular System)
- Endothelial Cells Blood Brain Barrier
- Gut Tube (Gastrointestinal Tract)
- Heart (Cardiovascular System)
- Dermis (Integumentary System)
- Fibroblasts
- Trophoblast (Extraembryonic Tissues)
- Glial Cells (Uncategorized)
- Spinal Cord (Nervous System)
-
Uterus (Reproductive System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Adrenal Gland (Endocrine System)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for FBLN5 Gene
This gene is overexpressed in Artery - Aorta (x9.3).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FBLN5 Gene:
FBLN5SOURCE GeneReport for Unigene cluster for FBLN5 Gene:
Hs.332708mRNA 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(3.8)
- Spleen(3.6)
- Nervous system(3.6)
- Heart(2.7)
- Muscle(2.6)
- 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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs and template standards for FBLN5
-
OriGene qPCR primer pairs for FBLN5
Orthologs for FBLN5 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBLN5 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBLN5 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FBLN5 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBLN5 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbln5 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fbln5 34 |
|
||
| chicken (Gallus gallus) |
Aves | FBLN5 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FBLN5 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fbln5 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fbln5 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG31999 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | fbl-1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for FBLN5 Gene
Paralogs for FBLN5 Gene
(26) SIMAP similar genes for FBLN5 Gene using alignment to 7 proteins:
Variants for FBLN5 Gene
| SNP ID | Clin | Chr 14 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121434302 | Pathogenic, Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] | 91,877,585(-) | TTCCC(A/G)CTGAC | reference, missense | |
| rs121434303 | Pathogenic, Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] | 91,870,336(-) | CAAAG(A/G)GCCCC | reference, missense, utr-variant-3-prime | |
| rs141200859 | Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895] | 91,937,183(+) | GGATG(A/G)TTCGG | reference, missense, utr-variant-5-prime | |
| rs144288844 | Pathogenic, Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895] | 91,937,058(+) | CGGAC(C/T)TGAGT | reference, missense | |
| rs149396611 | Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100], Macular degeneration, age-related, 3 (ARMD3) [MIM:608895], Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895] | 91,883,017(+) | TGTGC(C/T)GGGCT | reference, missense |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBLN5 Gene
Disorders for FBLN5 Gene
(19) 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 |
|
|
| cutis laxa, autosomal recessive, type ia |
|
|
| cutis laxa, autosomal dominant 2 |
|
|
| cutis laxa, ad |
|
|
| cutis laxa, autosomal dominant |
|
|
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, 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.
- 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 impairement 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.
Relevant External Links for FBLN5
No data available for Genatlas for FBLN5 Gene
Publications for FBLN5 Gene
- 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 4 22 64
- 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 22 46 64
- 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) MAcgarbanAc H. … Fischer J. (J. Invest. Dermatol. 2009) 3 4 22 64
- Fibulin 5 forms a compact dimer in physiological solutions. (PMID: 19617354) Jones R.P. … Trump D. (J. Biol. Chem. 2009) 3 4 22 64
- 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. (J. Invest. Dermatol. 2008) 3 4 22 64
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