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Fbln5 Gene Detail
Summary
  • Symbol
    Fbln5
  • Name
    fibulin 5
  • Synonyms
    EVEC
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346091
    NCBI Gene: 23876
  • Gene Overview
    MyGene.info: FBLN5
Location & Maps
more
  • Sequence Map
    Chr12:101746565-101819055 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      72491 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 51.29 cM, cytoband F1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    FBLN5, fibulin 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FBLN5, fibulin 5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ADCL2, ARCL1A, ARMD3, DANCE, EVEC, FIBL-5, HNARMD, UP50
  • Links
    NCBI Gene ID: 10516
    neXtProt AC: NX_Q9UBX5

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

  • HomoloGene
    Vertebrate Homology Class 38170
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: FBLN5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Fbln5 mouse models; 3 with human FBLN5 associations

Human Disease Mouse Models
       Cutis Laxa, Autosomal Recessive, Type IA; ARCL1A   OMIM: 219100 View 2 models
       Cutis Laxa, Autosomal Dominant 2; ADCL2   OMIM: 614434
Neuropathy, Hereditary, with or without Age-Related Macular Degeneration;   OMIM: 608895
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    24 phenotypes from 3 alleles in 3 genetic backgrounds
    2 images
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Fbln5
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    612 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000007360 fibulin-5
  • InterPro Domains
    IPR026823 Complement Clr-like EGF domain
    IPR018097 EGF-like calcium-binding, conserved site
    IPR001881 EGF-like calcium-binding domain
    IPR013032 EGF-like, conserved site
    IPR000742 EGF-like domain
    IPR000152 EGF-type aspartate/asparagine hydroxylation site
    IPR009030 Growth factor receptor cysteine-rich domain
Molecular
Reagents
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  • All nucleic 12
    cDNA 12

    Microarray probesets 4
References
more
  • Summaries
    All 55
    Developmental Gene Expression 10
    Diseases 2
    Gene Ontology 8
    Phenotypes 23
  • 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:232938 Noda K, et al., Fibulin-5 deficiency causes developmental defect of premaxillary bone in mice. Biochem Biophys Res Commun. 2015 Oct 23;466(3):585-91

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
09/20/2016
MGI 6.05
The Jackson Laboratory