Fbn2 fibrillin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fbn2provided by MGI
Official Full Name: fibrillin 2provided by MGI
Primary source: MGI:MGI:95490
See related: Ensembl:ENSMUSG00000024598 AllianceGenome:MGI:95490
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: sy; sne; Fib-2; mKIAA4226
Summary: Predicted to be an extracellular matrix structural constituent. Involved in several processes, including bone trabecula formation; positive regulation of osteoblast differentiation; and sequestering of TGFbeta in extracellular matrix. Acts upstream of or within embryonic limb morphogenesis. Located in extracellular region and microfibril. Is expressed in several structures, including connective tissue; embryo mesenchyme; genitourinary system; heart; and respiratory system. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in congenital contractural arachnodactyly and scoliosis. Orthologous to human FBN2 (fibrillin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in limb E14.5 (RPKM 40.9), CNS E11.5 (RPKM 13.1) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 D3; 18 32.15 cM

Exon count:: 66

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (58141689..58343200, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (58008623..58210572, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fibrillin-2 is a key mediator of smooth muscle extracellular matrix homeostasis during mouse tracheal tubulogenesis.
Title: Fibrillin-2 is a key mediator of smooth muscle extracellular matrix homeostasis during mouse tracheal tubulogenesis.
Downstream target genes of Ucma were found in osteoblasts by microarray analysis. 45 genes including Fbn2 were dependent on Ucma overexpression or knockdown. Fbn2 expression was proportional to Ucma expression in osteoblasts.
Title: Unique cartilage matrix-associated protein regulates fibrillin-2 expression and directly interacts with fibrillin-2 protein independent of calcium binding.
The analysis of Adamts10-/- mice led to identification of Fbn2 as a novel ADAMTS10 substrate and defined a proteolytic mechanism for clearance of ocular Fbn2 at the end of the juvenile period.
Title: Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage.
Studies provide evidence for the unique role of fibrillin-2 in regulating BMP-dependent limb patterning and its distinct impact from fbn1 proteins on the commitment and differentiation of marrow mesenchymal stem cells. [review]
Title: Fibrillin microfibrils in bone physiology.
Fibrillin-2 and periostin are target genes in Osterix-mediated osteoblast differentiation.
Title: Induction of fibrillin-2 and periostin expression in Osterix-knockdown MC3T3-E1 cells.
These results suggest that both fibrillin-1 and fibrillin-2 expression is required to form thick oxytalan fibers in periodontal ligament.
Title: Immunohistochemical expression of fibrillin-1 and fibrillin-2 during tooth development.
Fibrillin-2 plays a role in forelimb muscle differentiation and infiltration of fat into the limb connective tissue space.
Title: Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice.
the bronchial epithelial dysplasia accompanying microfibril dysregulation in Adamtsl2(-/-) mice cannot be reversed by TGFbeta neutralization, and thus might be mediated by other mechanisms.
Title: Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.
We propose that the Mp "worse-than-null" eye phenotype plausibly results from a failure in normal trafficking of proteins that are co-expressed with Fbn2 within the ciliary margin
Title: A trans-acting protein effect causes severe eye malformation in the Mp mouse.
Fbn2 has an indispensable role in ocular morphogenesis in mice. The high incidence of iris coloboma in Fbn2-null animals implies a previously unsuspected role in optic fissure closure.
Title: Ocular phenotype of Fbn2-null mice.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (4) 1 citation
Chemically induced (other) (1) 1 citation
Targeted (2) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L39790 (e-PCR)
- UniSTS:181123

Fbn2 (e-PCR), detects polymorphism
- UniSTS:256395

AU048852 (e-PCR)
- UniSTS:145302

Fbn2 (e-PCR), detects polymorphism
- UniSTS:463015

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	TAS Traceable Author Statement more info	PubMed
enables extracellular matrix structural constituent	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables hormone activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone trabecula formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in placenta development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of trophoblast cell migration	ISO Inferred from Sequence Orthology more info
involved_in sequestering of TGFbeta in extracellular matrix	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
is_active_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in microfibril	IDA Inferred from Direct Assay more info	PubMed
located_in microfibril	ISO Inferred from Sequence Orthology more info
located_in microfibril	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: fibrillin-2

Names: syndatyly ems

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010181.2 → NP_034311.2 fibrillin-2 precursor

See identical proteins and their annotated locations for NP_034311.2

Status: VALIDATED

Source sequence(s)

AC102317, AC127358

Consensus CDS

CCDS37827.1

UniProtKB/Swiss-Prot

E9QJZ4, Q61555, Q63957

Related

ENSMUSP00000025497.6, ENSMUST00000025497.8

Conserved Domains (9) summary

cd11304
Location:2821 → 2868

Cadherin_repeat; Cadherin tandem repeat domain

smart00179
Location:2206 → 2245

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:803 → 838

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00683
Location:1742 → 1779

TB; TB domain

pfam06247
Location:1286 → 1439

Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28

pfam12662
Location:783 → 806

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1405 → 1440

EGF_3; EGF domain

pfam14670
Location:1239 → 1274

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:2482 → 2522

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

58141689..58343200 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017317828.3 → XP_017173317.1 fibrillin-2 isoform X1

Conserved Domains (10) summary

cd11304
Location:2788 → 2835

Cadherin_repeat; Cadherin tandem repeat domain

smart00179
Location:2173 → 2212

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:770 → 805

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00683
Location:971 → 1013

TB; TB domain

pfam12662
Location:750 → 773

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1372 → 1407

EGF_3; EGF domain

pfam14670
Location:1206 → 1241

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18193
Location:76 → 112

Fibrillin_U_N; Fibrillin 1 unique N-terminal domain

cl00057
Location:2487 → 2523

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl21504
Location:285 → 325

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
XM_030250333.2 → XP_030106193.1 fibrillin-2 isoform X2

UniProtKB/TrEMBL

Q571J3

Conserved Domains (8) summary

cd11304
Location:2203 → 2250

Cadherin_repeat; Cadherin tandem repeat domain

smart00179
Location:1588 → 1627

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:185 → 220

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00683
Location:386 → 428

TB; TB domain

pfam12662
Location:165 → 188

cEGF; Complement Clr-like EGF-like

pfam12947
Location:787 → 822

EGF_3; EGF domain

pfam14670
Location:621 → 656

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:1902 → 1938

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...