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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 NCBI 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

Gene Tree: Fbln5

Human
homologs
Human Homolog FBLN5, fibulin 5
NCBI Gene ID 10516
neXtProt AC  NX_Q9UBX5
Human Synonyms  ADCL2, ARCL1A, ARMD3, DANCE, EVEC, FIBL-5, UP50
Human Chr (Location)  14q32.1; chr14:91869410-91947702 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human FBLN5
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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 Using Mouse Fbln5 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(2)
Interactions
Fbln5 interacts with 421 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cell adhesion, elastic fiber assembly, ...
Component elastic fiber, extracellular matrix, ...
Function calcium ion binding, protein C-terminus binding
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (278)    Tissues (66)    Images (42)
Theiler Stages: 13, 15, 19, 20, 22, 23, 28
Assay TypeResults
RNA in situ 278
cDNA source data(11)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(12) cDNA(12)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000021186 (Evidence)
Entrez Gene23876 (Evidence)
DFCITC1574358, TC1702980, TC1760925
DoTSDT.101356919, DT.530914
NIA Mouse Gene IndexU034273
Consensus CDS ProjectCCDS36525.1
International Mouse Knockout Project StatusFbln5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 23876 NCBI Gene Model | MGI Sequence Detail 72491 C57BL/6J ±  kb
transcript NM_011812 RefSeq | MGI Sequence Detail 5893 C57BL/6 
polypeptide Q9WVH9 UniProt | EBI | MGI Sequence Detail 448 Not Applicable 

For the selected sequences
All sequences(54) 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
Graphical View of Protein Domain Structure
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:198301 Budatha M, et al., Dysregulation of protease and protease inhibitors in a mouse model of human pelvic organ prolapse. PLoS One. 2013;8(2):e56376
All references(52)
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
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory