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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
  • Alliance
Location &
Maps
more
  • Sequence Map
    Chr18:58008623-58209926 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 32.15 cM, cytoband D-E1
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1666 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95490
protein coding gene Chr18:58008623-58210564 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024452
protein coding gene Chr18:57493815-57707668 (-)
A/J MGP_AJ_G0024418
protein coding gene Chr18:55197256-55403982 (-)
AKR/J MGP_AKRJ_G0024388
protein coding gene Chr18:56735095-56943259 (-)
BALB/cJ MGP_BALBcJ_G0024418
protein coding gene Chr18:55364888-55569945 (-)
C3H/HeJ MGP_C3HHeJ_G0024185
protein coding gene Chr18:56918750-57140433 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024864
protein coding gene Chr18:59301133-59519226 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022296
protein coding gene Chr18:54780452-54983703 (-)
CAST/EiJ MGP_CASTEiJ_G0023659
protein coding gene Chr18:56948131-57162444 (-)
CBA/J MGP_CBAJ_G0024155
protein coding gene Chr18:61187984-61415138 (-)
DBA/2J MGP_DBA2J_G0024285
protein coding gene Chr18:54901133-55106300 (-)
FVB/NJ MGP_FVBNJ_G0024252
protein coding gene Chr18:54270012-54476221 (-)
LP/J MGP_LPJ_G0024370
protein coding gene Chr18:57429282-57649407 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024282
protein coding gene Chr18:62750020-62975244 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024911
protein coding gene Chr18:56846638-57054003 (-)
PWK/PhJ MGP_PWKPhJ_G0023403
protein coding gene Chr18:54917370-55124793 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023209
protein coding gene Chr18:56921848-57144023 (-)
WSB/EiJ MGP_WSBEiJ_G0023722
protein coding gene Chr18:56744989-56959084 (-)



Homology
more
  • Human Ortholog
    FBN2, fibrillin 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    FBN2, fibrillin 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CCA, DA9, EOMD
  • Links
    NCBI Gene ID: 2201
    neXtProt AC: NX_P35556
    UniProt: P35556

  • Chr Location
    5q23.3; chr5:128257908-128538358 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 4 models
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
less
  • Phenotype Summary
    27 phenotypes from 7 alleles in 10 genetic backgrounds
    6 phenotypes from multigenic genotypes
    7 images
    32 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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell 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 ENSMUSG00000024598 Ensembl Gene Model | MGI Sequence Detail 201304 C57BL/6J ±  kb
    transcript ENSMUST00000025497 Ensembl | MGI Sequence Detail 10480 Not Applicable  
    polypeptide ENSMUSP00000025497 Ensembl | MGI Sequence Detail 2907 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 146
      Genomic 2
      cDNA 139
      Primer pair 5

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9718, MGI:1890570, MGI:3039617
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 21
      Diseases 5
      Gene Ontology 13
      Phenotypes 32
    • Earliest
      J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80:220-246
    • Latest
      J:263533 Geister KA, et al., Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice. G3 (Bethesda). 2018 Feb 2;8(2):401-409

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory