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 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; chr14:92335755-92414046 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human FBLN5

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	cell adhesion, elastic fiber assembly, ...
Component	cytoplasm, elastic fiber, ...
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 Type	Results
RNA in situ	278

cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(12) cDNA(12)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000021186 (Evidence)
Entrez Gene	23876 (Evidence)
DFCI	TC1574358, TC1702980
DoTS	DT.101356919, DT.530914
NIA Mouse Gene Index	U034273
Consensus CDS Project	CCDS36525.1
International Mouse Knockout Project Status	Fbln5

Sequences

Length	Strain/Species
genomic	23876	NCBI Gene Model | MGI Sequence Detail	72491	C57BL/6J
transcript	NM_011812	RefSeq | MGI Sequence Detail	5893	C57BL/6
polypeptide	Q9WVH9	UniProt | EBI | MGI Sequence Detail	448	Not Applicable

All sequences(45) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(602 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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
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:194610 Wan W, et al., Dysfunction in elastic fiber formation in fibulin-5 null mice abrogates the evolution in mechanical response of carotid arteries during maturation. Am J Physiol Heart Circ Physiol. 2013 Mar 1;304(5):H674-86
All references(51)