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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
    genome feature page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:58141689-58343200 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 32.15 cM, cytoband D-E1
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6572 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95490
 protein coding gene Chr18:58141689-58343559 (-)
129S1/SvImJ ENSMUSG00200031815
 protein coding gene Chr18:55240529-55446951 (-)
A/J ENSMUSG00195004878
 protein coding gene Chr18:55360541-55568824 (-)
AKR/J ENSMUSG00220015973
 protein coding gene Chr18:55348785-55551899 (-)
BALB/cJ ENSMUSG00180011941
 protein coding gene Chr18:55931947-56140233 (-)
C3H/HeJ ENSMUSG00175032351
 protein coding gene Chr18:55550534-55756919 (-)
C57BL/6NJ ENSMUSG00215036919
 protein coding gene Chr18:54871081-55072918 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022296
 protein coding gene Chr18:54780452-54983703 (-)
CAST/EiJ ENSTCUG00005024699
 protein coding gene Chr18:54741720-54945586 (-)
CBA/J ENSMUSG00210029166
 protein coding gene Chr18:55496357-55704621 (-)
DBA/2J ENSMUSG00185014614
 protein coding gene Chr18:55402673-55609055 (-)
FVB/NJ ENSMUSG00205016560
 protein coding gene Chr18:54858077-55064488 (-)
JF1/MsJ ENSUMUG00000020423
 protein coding gene Chr18:55299102-55503001 (-)
LP/J ENSMUSG00230010692
 protein coding gene Chr18:57408400-57621568 (-)
NOD/ShiLtJ ENSMUSG00190024913
 protein coding gene Chr18:55128993-55342155 (-)
NZO/HlLtJ ENSMUSG00225035292
 protein coding gene Chr18:57277182-57483552 (-)
PWK/PhJ ENSLUMG00010008398
 protein coding gene Chr18:55421268-55625034 (-)
SPRET/EiJ ENSMSPG00010017363
 protein coding gene Chr18:55811897-56024092 (-)
WSB/EiJ ENSIUOG00005008133
 protein coding gene Chr18:55025848-55232226 (-)



Homology
more
  • Human Ortholog
    FBN2, fibrillin 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FBN2, fibrillin 2
  • Synonyms
    CCA, DA9, EOMD
  • Links
    NCBI Gene ID: 2201
    UniProt: P35556

  • Chr Location
    5q23.3; chr5:128257909-128659185 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Fbn2 mouse models; 2 with human FBN2 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
IDs
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
    66 phenotypes from 8 alleles in 11 genetic backgrounds
    6 phenotypes from multigenic genotypes
    7 images
    41 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.
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
less
  • All GO Annotations
    42
  • GO References
    19
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    828
  • Tissues
    104
  • cDNA Data
    148
  • Literature Summary
    45
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14119 NCBI Gene Model | MGI Sequence Detail 201512 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 160
      Genomic 2
      cDNA 150
      Primer pair 8
      Antibodies 10

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9718, MGI:1890570, MGI:3039617
    References
    more
    • Summaries
      All 122
      Developmental Gene Expression 45
      Diseases 5
      Gene Ontology 19
      Phenotypes 41
    • Earliest
      J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80(1):220-246
    • Latest
      J:372243 Huijbers EJM, et al., Embryonic reprogramming of the tumor vasculature reveals targets for cancer therapy. Proc Natl Acad Sci U S A. 2025 Mar 25;122(12):e2424730122
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory