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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
  • Alliance
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:101746565-101819055 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 51.29 cM, cytoband F1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    612 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1346091
protein coding gene Chr12:101746565-101819130 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020025
protein coding gene Chr12:103341464-103417044 (-)
A/J MGP_AJ_G0019981
protein coding gene Chr12:99373196-99447217 (-)
AKR/J MGP_AKRJ_G0019957
protein coding gene Chr12:102200244-102280659 (-)
BALB/cJ MGP_BALBcJ_G0019967
protein coding gene Chr12:99719469-99794959 (-)
C3H/HeJ MGP_C3HHeJ_G0019769
protein coding gene Chr12:102650591-102724535 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020416
protein coding gene Chr12:106579559-106655832 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018029
protein coding gene Chr12:96412634-96484521 (-)
CAST/EiJ MGP_CASTEiJ_G0019315
protein coding gene Chr12:97474402-97551269 (-)
CBA/J MGP_CBAJ_G0019741
protein coding gene Chr12:110506644-110589362 (-)
DBA/2J MGP_DBA2J_G0019852
protein coding gene Chr12:98895985-98972471 (-)
FVB/NJ MGP_FVBNJ_G0019841
protein coding gene Chr12:97616631-97689880 (-)
LP/J MGP_LPJ_G0019928
protein coding gene Chr12:103207308-103279438 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019881
protein coding gene Chr12:114015930-114096140 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020445
protein coding gene Chr12:101711544-101785431 (-)
PWK/PhJ MGP_PWKPhJ_G0019078
protein coding gene Chr12:93456249-93532041 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018874
protein coding gene Chr12:95882244-95961524 (-)
WSB/EiJ MGP_WSBEiJ_G0019369
protein coding gene Chr12:102590445-102664610 (-)



Homology
more
  • Human Ortholog
    FBLN5, fibulin 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FBLN5, fibulin 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ADCL2, ARCL1A, ARMD3, DANCE, EVEC, FIBL-5, HNARMD, UP50
  • Links
    NCBI Gene ID: 10516
    neXtProt AC: NX_Q9UBX5
    UniProt: Q9UBX5

  • Chr Location
    14q32.12; chr14:91869411-91947702 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 2 models
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
    24 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021186 Ensembl Gene Model | MGI Sequence Detail 72491 C57BL/6J ±  kb
    transcript ENSMUST00000222587 Ensembl | MGI Sequence Detail 2371 Not Applicable  
    polypeptide ENSMUSP00000152680 Ensembl | MGI Sequence Detail 461 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 13

      Microarray probesets 4
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 10
      Diseases 2
      Gene Ontology 11
      Phenotypes 24
    • 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:265607 Naba A, et al., Quantitative proteomic profiling of the extracellular matrix of pancreatic islets during the angiogenic switch and insulinoma progression. Sci Rep. 2017 Jan 10;7:40495

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory