Fbln2 fibulin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fbln2provided by MGI
Official Full Name: fibulin 2provided by MGI
Primary source: MGI:MGI:95488
See related: Ensembl:ENSMUSG00000064080 AllianceGenome:MGI:95488
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: FIBL-2; 5730577E14Rik
Summary: Enables extracellular matrix binding activity. Acts upstream of or within positive regulation of cell-substrate adhesion. Located in collagen-containing extracellular matrix. Is expressed in several structures, including central nervous system; craniocervical region bone; genitourinary system; intraembryonic coelom; and limb segment. Orthologous to human FBLN2 (fibulin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in limb E14.5 (RPKM 77.0), subcutaneous fat pad adult (RPKM 55.8) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 D1; 6 40.42 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (91189442..91249522)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (91212460..91272540)

Chromosome 6 - NC_000072.7 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?

Lung Inflammatory Phenotype in Mice Deficient in Fibulin-2 and ADAMTS-12.
Title: Lung Inflammatory Phenotype in Mice Deficient in Fibulin-2 and ADAMTS-12.
Fibulin-2: A potential regulator of immune dysfunction after bone trauma.
Title: Fibulin-2: A potential regulator of immune dysfunction after bone trauma.
Fibulin 2 Is Hypermethylated and Suppresses Tumor Cell Proliferation through Inhibition of Cell Adhesion and Extracellular Matrix Genes in Non-Small Cell Lung Cancer.
Title: Fibulin 2 Is Hypermethylated and Suppresses Tumor Cell Proliferation through Inhibition of Cell Adhesion and Extracellular Matrix Genes in Non-Small Cell Lung Cancer.
High FBLN2 expression is associated with cognitive impairment.
Title: Up-regulated miR-192-5p expression rescues cognitive impairment and restores neural function in mice with depression via the Fbln2-mediated TGF-β1 signaling pathway.
Fibulin 2 localized to the RPE, choroid, and Bruch's membrane. Knockout mice had a significantly reduced scotopic A response by 1 month of age, when compared to their wild-type counterparts, which remained throughout life and only declined as a result of normal aging. The functional decline was associated with reduced number of photoreceptor cells.
Title: Role of Fibulins 2 and 5 in Retinal Development and Maintenance.
Our study indicates that Ang II cannot induce TGF-beta activation without fibulin-2 and that fibulin-2 has an essential role in Ang II-induced TGF-beta signaling and subsequent myocardial fibrosis. Fibulin-2 can be considered as a critical regulator of TGF-beta that induces myocardial fibrosis.
Title: Fibulin-2 is essential for angiotensin II-induced myocardial fibrosis mediated by transforming growth factor (TGF)-β.
These findings demonstrate a prominent role for alpha3beta1 in immortalized/transformed keratinocytes in regulating fibulin-2 and other genes that promote matrix remodeling and invasion.
Title: Regulation of fibulin-2 gene expression by integrin α3β1 contributes to the invasive phenotype of transformed keratinocytes.
FBLN2 and VCAN were both preferentially expressed in the mammary gland during times of epithelial expansion in TEB-enriched tissue and co-localised specifically in cap cell.
Title: Fibulin-2 is involved in early extracellular matrix development of the outgrowing mouse mammary epithelium.
integrin alpha3beta1 has a role in basement membrane stability through fibulin-2 induction, both in neonatal skin and in adult wounds
Title: Reduced fibulin-2 contributes to loss of basement membrane integrity and skin blistering in mice lacking integrin α3β1 in the epidermis.
levels of fibulin 2 dramatically increased in the retinal pigment epithelium following retinal detachment, suggesting a direct role for fibulin 2 in the re-attachment of the retina to the retinal pigment epithelium.
Title: Fibulin 2, a tyrosine O-sulfated protein, is up-regulated following retinal detachment.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

X75285 (e-PCR)
- UniSTS:159544

UniSTS:235496 (e-PCR)
- UniSTS:235496

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix binding	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix binding	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of cell-substrate adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cell-substrate adhesion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: fibulin-2

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_001081437.2 → NP_001074906.1 fibulin-2 isoform b precursor

See identical proteins and their annotated locations for NP_001074906.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform b, which lacks an internal segment and is shorter, compared to isoform a.

Source sequence(s)

AC121990, AC131764

Consensus CDS

CCDS39567.1

UniProtKB/TrEMBL

Q3TGL4, Q99K58

Related

ENSMUSP00000109126.3, ENSMUST00000113498.9

Conserved Domains (7) summary

smart00179
Location:848 → 890

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:287 → 422

PHA03247; large tegument protein UL36; Provisional

cd00017
Location:420 → 479

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:754 → 798

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:952 → 975

cEGF; Complement Clr-like EGF-like

pfam14670
Location:895 → 931

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl21504
Location:709 → 745

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 ...
NM_007992.3 → NP_032018.2 fibulin-2 isoform a precursor

See identical proteins and their annotated locations for NP_032018.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC121990, AC131764

Consensus CDS

CCDS39566.1

UniProtKB/Swiss-Prot

G5E8B3, P37889, Q9WUI2

UniProtKB/TrEMBL

Q99K58

Related

ENSMUSP00000048334.8, ENSMUST00000041544.8

Conserved Domains (8) summary

smart00179
Location:895 → 937

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:287 → 422

PHA03247; large tegument protein UL36; Provisional

cd00017
Location:420 → 479

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:801 → 845

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:999 → 1022

cEGF; Complement Clr-like EGF-like

pfam14670
Location:606 → 634

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:707 → 749

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:756 → 792

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 ...

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_000072.7 Reference GRCm39 C57BL/6J

Range

91189442..91249522

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030255157.1 → XP_030111017.1 fibulin-2 isoform X3

UniProtKB/TrEMBL

Q99K58

Conserved Domains (8) summary

smart00179
Location:895 → 937

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:287 → 422

PHA03247; large tegument protein UL36; Provisional

cd00017
Location:420 → 479

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:801 → 845

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:999 → 1022

cEGF; Complement Clr-like EGF-like

pfam14670
Location:606 → 634

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:707 → 749

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:756 → 792

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_006505530.5 → XP_006505593.1 fibulin-2 isoform X1

See identical proteins and their annotated locations for XP_006505593.1

UniProtKB/Swiss-Prot

G5E8B3, P37889, Q9WUI2

UniProtKB/TrEMBL

Q99K58

Conserved Domains (8) summary

smart00179
Location:895 → 937

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:287 → 422

PHA03247; large tegument protein UL36; Provisional

cd00017
Location:420 → 479

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:801 → 845

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:999 → 1022

cEGF; Complement Clr-like EGF-like

pfam14670
Location:606 → 634

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:707 → 749

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:756 → 792

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_030255156.2 → XP_030111016.1 fibulin-2 isoform X2

UniProtKB/TrEMBL

Q3TGL4, Q99K58

Conserved Domains (7) summary

smart00179
Location:848 → 890

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:287 → 422

PHA03247; large tegument protein UL36; Provisional

cd00017
Location:420 → 479

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

pfam07645
Location:754 → 798

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:952 → 975

cEGF; Complement Clr-like EGF-like

pfam14670
Location:895 → 931

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl21504
Location:709 → 745

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 ...