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Fbn2 Gene Detail
Summary
  • Symbol
    Fbn2
  • Name
    fibrillin 2
  • Synonyms
    Fib-2, Sne, sy
  • Feature Type
    protein coding gene
  • IDs
    MGI:95490
    NCBI Gene: 14119
Location & Maps
more
  • Sequence Map
    Chr18:58008623-58209926 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      201304 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 32.15 cM, cytoband D-E1
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    FBN2, fibrillin 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    FBN2, fibrillin 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CCA, DA9, EOMD
  • Links
    NCBI Gene ID: 2201
    neXtProt AC: NX_P35556

  • Chr Location
    5q23.3; chr5:128257909-128538042 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Fbn2 mouse models; 2 with human FBN2 associations

Human Disease Mouse Models
       Arthrogryposis, Distal, Type 9; DA9   OMIM: 121050 View 4 models
       Macular Degeneration, Early-Onset; EOMD   OMIM: 616118
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 6 alleles in 9 genetic backgrounds
    6 phenotypes from multigenic genotypes
    7 images
    30 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Spontaneous
    3
  • Targeted
    1
  • Genomic Mutations
    2 involving Fbn2
  • Incidental Mutations
Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene.
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 14119 NCBI Gene Model | MGI Sequence Detail 201304 C57BL/6J ±  kb
transcript NM_010181 RefSeq | MGI Sequence Detail 10480 Not Specified  
polypeptide Q61555 UniProt | EBI | MGI Sequence Detail 2907 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1666 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 143
    Genomic 2
    cDNA 137
    Primer pair 4

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-9718, MGI:1890570, MGI:3039617
References
more
  • Summaries
    All 62
    Developmental Gene Expression 17
    Diseases 5
    Gene Ontology 13
    Phenotypes 30
  • Earliest
    J:13514 Hummel KP, et al., Fused phalanges. Mouse News Lett. 1971;45:28
  • Latest
    J:228583 Nandadasa S, et al., ADAMTS9-Mediated Extracellular Matrix Dynamics Regulates Umbilical Cord Vascular Smooth Muscle Differentiation and Rotation. Cell Rep. 2015 Jun 16;11(10):1519-28

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
05/24/2016
MGI 6.04
The Jackson Laboratory