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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
    gene 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
    18
  • 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 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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FBN2, fibrillin 2
  • Synonyms
    CCA, DA9, EOMD
  • Links
    NCBI Gene ID: 2201
    neXtProt AC: NX_P35556
    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
    64 phenotypes from 8 alleles in 11 genetic backgrounds
    6 phenotypes from multigenic genotypes
    7 images
    40 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
    28
  • GO References
    15
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
    917
  • Tissues
    95
  • cDNA Data
    148
  • Literature Summary
    41
  • 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 158
      Genomic 2
      cDNA 149
      Primer pair 7

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9718, MGI:1890570, MGI:3039617
    References
    more
    • Summaries
      All 108
      Developmental Gene Expression 41
      Diseases 5
      Gene Ontology 15
      Phenotypes 40
    • Earliest
      J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80(1):220-246
    • Latest
      J:352032 Wang L, et al., ADAMTS18-fibronectin interaction regulates the morphology of liver sinusoidal endothelial cells. iScience. 2024 Jul 19;27(7):110273
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory