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Fbn2
Gene Detail
 Symbol
Name
ID
Fbn2
fibrillin 2
MGI:95490
Synonyms Fib-2, Sne, sy
Feature Type protein coding gene
Genetic Map
Chromosome 18
32.15 cM, cytoband D-E1
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr18:58008623-58209926 bp, - strand
From NCBI annotation of GRCm38

  201304 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1515  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: fibrillin
Gene Tree: Fbn2

Human
homologs
Human Homolog FBN2, fibrillin 2
NCBI Gene ID 2201
neXtProt AC  NX_P35556
Human Synonyms  CCA, DA9
Human Chr (Location)  5q23-q31; chr5:128257909-128538042 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human FBN2
Alleles
and
phenotypes
All alleles(5) : Chemically induced (ENU)(1) Chemically induced (other)(1) Spontaneous(2) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Fbn2 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(7)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process bone trabecula formation, embryonic limb morphogenesis, ...
Component extracellular region, microfibril, ...
Function calcium ion binding, extracellular matrix structural constituent
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (128)    Tissues (41)    Images (31)
Theiler Stages: 14, 16, 17, 18, 20, 22, 23, 26, 28
Assay TypeResults
RNA in situ 72
Western blot 32
RT-PCR 24
cDNA source data(136)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(143) Genomic(2) cDNA(137) Primer pair(4)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000024598 (Evidence)
Entrez Gene14119 (Evidence)
UniGene20271
DFCITC1602749, TC1631223
DoTSDT.488404, DT.55163414, DT.91445542
NIA Mouse Gene IndexU043890
Consensus CDS ProjectCCDS37827.1
International Mouse Knockout Project StatusFbn2
Sequences
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 sequences
All sequences(26) RefSeq(2) UniProt(3)
Polymorphisms RFLP(1) : SNPs within 2kb(1684 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026823 Complement Clr-like EGF domain
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
InterPro IPR011398 Fibrillin
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR017878 TB domain
Protein Ontology PR:000007363 fibrillin-2
Graphical View of Protein Domain Structure
References (Earliest) J:13514 Hummel KP, et al., Fused phalanges. Mouse News Lett. 1971;45:28
(Latest) J:190996 d'Amaro R, et al., Putative functions of extracellular matrix glycoproteins in secondary palate morphogenesis. Front Physiol. 2012;3:377
All references(52)
Other
accession IDs
MGD-MRK-9718, MGI:1890570, MGI:3039617

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
07/15/2014
MGI 5.18
The Jackson Laboratory