About   Help   FAQ
Fbln5
Gene Detail
Symbol

Name
ID
Fbln5
fibulin 5
MGI:1346091
Synonyms
EVEC
Feature Type
protein coding gene
Genetic Map
Chromosome 12
51.29 cM, cytoband F1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr12:101746565-101819055 bp, - strand
From Ensembl annotation of GRCm38

  72491 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:38170  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: FBLN5
Gene Tree: Fbln5

Human
homologs
FBLN5, fibulin 5
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 10516
neXtProt AC: NX_Q9UBX5

Human Synonyms: ADCL2, ARCL1A, ARMD3, DANCE, EVEC, FIBL-5, UP50

Human Chr (Location): 14q32.1; chr14:91869411-91947702 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human FBLN5

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta.
 
Human Diseases Modeled in Mice Using Fbln5 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(2)
Interactions
Fbln5 interacts with 420 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process cell adhesion, elastic fiber assembly, ...
Component elastic fiber, extracellular exosome, ...
Function calcium ion binding, integrin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (278)    Tissues (66)    Images (42)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 278
cDNA source data(11)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase fbln5 ; ZFIN fbln5    NEW 
Molecular
reagents
All nucleic(12) cDNA(12)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000021186 (Evidence)
Entrez Gene 23876 (Evidence)
DFCI TC1760925, TC1702980, TC1574358
DoTS DT.530914, DT.101356919
NIA Mouse Gene Index U034273
Consensus CDS Project CCDS36525.1
International Mouse Phenotyping Consortium Status Fbln5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021186 Ensembl Gene Model | MGI Sequence Detail 72491 C57BL/6J ±  kb
transcript ENSMUST00000021603 Ensembl | MGI Sequence Detail 5829 Not Applicable 
polypeptide ENSMUSP00000021603 Ensembl | MGI Sequence Detail 448 Not Applicable 

For the selected sequences
All sequences(56) RefSeq(8) UniProt(1)
Polymorphisms
SNPs within 2kb(613 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026823 Complement Clr-like EGF domain
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
Protein Ontology PR:000007360 fibulin-5
References
(Earliest) J:56624 Nakamura T, et al., DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries. J Biol Chem. 1999 Aug 6;274(32):22476-83
(Latest) J:221341 Lun MP, et al., Spatially heterogeneous choroid plexus transcriptomes encode positional identity and contribute to regional CSF production. J Neurosci. 2015 Mar 25;35(12):4903-16
All references(54)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/28/2015
MGI 5.22
The Jackson Laboratory