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; 1 zebrafish

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; chr5:127593601-127873735 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human FBN2

Alleles and phenotypes

All alleles(5) : Targeted(1) Spontaneous(2) Chemically induced(2)
 

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(6)

Gene Ontology (GO) classifications

All GO classifications: (13 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 Type	Results
RNA in situ	72
Western blot	32
RT-PCR	24

cDNA source data(138)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(145) Genomic(2) cDNA(139) Primer pair(4)
Microarray probesets(5)

Other database links

Ensembl Gene Model	ENSMUSG00000024598 (Evidence)
Entrez Gene	14119 (Evidence)
UniGene	20271
DFCI	TC1602749, TC1631223
DoTS	DT.488404, DT.55163414, DT.91445542
NIA Mouse Gene Index	U043890
Consensus CDS Project	CCDS37827.1
International Mouse Knockout Project Status	Fbn2

Sequences

Length	Strain/Species
genomic	14119	NCBI Gene Model | MGI Sequence Detail	201304	C57BL/6J
transcript	NM_010181	RefSeq | MGI Sequence Detail	10480	Not Specified
polypeptide	Q61555	UniProt | EBI | MGI Sequence Detail	2907	Not Applicable

All sequences(26) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(1) : SNPs(1299 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(51)

Other accession IDs

MGD-MRK-9718, MGI:1890570, MGI:3039617