Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 [Mus musculus (house mouse)] - Gene

Summary

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Official Symbol: Efemp2provided by MGI
Official Full Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 2provided by MGI
Primary source: MGI:1891209
See related: Ensembl:ENSMUSG00000024909; Vega:OTTMUSG00000036759
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MBP1; Fbln4; 0610011K11Rik

Genomic context

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Location :: 19 A; 19

Sequence :: Chromosome: 19; NC_000085.6 (5474690..5481854)

See Efemp2 in Epigenomics, MapViewer

Chromosome 19 - NC_000085.6 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data show that fibulin-4 staining intensity in the ligamentum flavum was greatest at P14, though moderately strong at P7 and P21, and efore P7 and after P28, staining was detectable but relatively minimal.
Title: Elastogenic protein expression of a highly elastic murine spinal ligament: the ligamentum flavum.
Data show that the structural and functional alterations were accompanied by upregulation of TGF-beta signaling in aortas from fibulin-4 deficient mice.
Title: Impaired vascular contractility and aortic wall degeneration in fibulin-4 deficient mice: effect of angiotensin II type 1 (AT1) receptor blockade.
Report coregistration of MMP activity by noninvasive tomographic imaging methods allows the detection of increased MMP activity, even before the aneurysm has actually formed in fibulin-4 deficient mice.
Title: Multimodality imaging reveals a gradual increase in matrix metalloproteinase activity at aneurysmal lesions in live fibulin-4 mice.
Fibulin-4 plays a dual role in the formation of elastic fibers as well as terminal differentiation and maturation of SMCs in the aortic wall.
Title: Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression.
A sufficient amount of FBLN4 is essential for tethering LOX to tropoelastin to facilitate cross-linking during elastogenesis.
Title: Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase.
Transcriptome and protein expression analysis implicate perturbation of TGF-beta signaling in the pathogenesis of aneurysm in fibulin-4 deficient mice.
Title: Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice.
fibulin-4 plays an irreplaceable role in elastogenesis.
Title: Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice.

Submit: New GeneRIF Correction

Alleles

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

Targeted (Floxed/Frt) (2) 1 citation
Targeted (knock-out) (3) 1 citation
Targeted (Reporter) (1)

Pathways from BioSystems

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Elastic fibre formation, organism-specific biosystem (from REACTOME)
Elastic fibre formation, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Extracellular matrix organization, organism-specific biosystem (from REACTOME)
Extracellular matrix organization, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Molecules associated with elastic fibres, organism-specific biosystem (from REACTOME)
Molecules associated with elastic fibres, organism-specific biosystemcomputationally inferred pathway (not manually curated)

General gene information

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Markers

Efemp2 (e-PCR), detects polymorphism
- UniSTS:495941

Efemp2 (e-PCR), detects polymorphism
- UniSTS:257018

Homology

Homologs of the Efemp2 gene: The Efemp2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, and zebrafish.
Map Viewer (Human)

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info
transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
blood coagulation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
extracellular region	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
proteinaceous extracellular matrix	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: EGF-containing fibulin-like extracellular matrix protein 2

Names: EGF-containing fibulin-like extracellular matrix protein 2; FIBL-4; fibulin 4; fibulin-4; mutant p53-binding protein 1; EGF-containing fibulin-like extracellular matrix protein 2 (Efemp2)

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_001164352.1 → NP_001157824.1 EGF-containing fibulin-like extracellular matrix protein 2 isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) retains a segment in its 5' end which results in the use of an upstream start codon, compared to variant 1. The resulting protein (isoform 2) has a longer N-terminus when it is compared to isoform 1.

Source sequence(s)

AI327154, AK075585, CJ093169

Consensus CDS

CCDS50358.1

UniProtKB/TrEMBL

G5E8D6

UniProtKB/TrEMBL

Q542X5

Related

ENSMUSP00000064719, OTTMUSP00000052424, ENSMUST00000070118, OTTMUST00000094317

Conserved Domains (3) summary

cd00054
Location:142 – 175
Blast Score: 91

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 ...

pfam12662
Location:202 – 225
Blast Score: 99

cEGF; Complement Clr-like EGF-like

cl09941
Location:302 – 329
Blast Score: 89

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_021474.3 → NP_067449.3 EGF-containing fibulin-like extracellular matrix protein 2 isoform 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the more frequently occurring transcript.

Source sequence(s)

AI327154, AK075585, BY234446

Consensus CDS

CCDS29466.1

UniProtKB/TrEMBL

Q542X5

UniProtKB/Swiss-Prot

Q9WVJ9

Related

ENSMUSP00000133016, OTTMUSP00000052420, ENSMUST00000165485, OTTMUST00000094312

Conserved Domains (3) summary

cd00054
Location:123 – 156
Blast Score: 90

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 ...

pfam12662
Location:183 – 206
Blast Score: 98

cEGF; Complement Clr-like EGF-like

cl09941
Location:283 – 310
Blast Score: 89

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: Mus musculus Annotation Release 103

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

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000085.6 Reference GRCm38.p1 C57BL/6J

Range

5474690..5481854

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000041.1 Alternate Mm_Celera

Range

5346431..5353554

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01141364.1	None
genomic	AAHY01141365.1	None
genomic	AC126029.3 (162124..169227)	None
genomic	CH466612.1	EDL33138.1	mixed
		EDL33139.1	mixed
		EDL33140.1	mixed
		EDL33141.1	mixed
mRNA	AF104223.1	AAD45219.1	C57BL/6J
mRNA	AF109122.1	AAF65189.1
mRNA	AI327154.1	None	C57BL/6J
mRNA	AK075585.1	BAC35838.1	C57BL/6J
mRNA	AK184392.1	None
mRNA	BC012269.1	AAH12269.1	FVB/N
mRNA	BY234446.1	None	C57BL/6J
mRNA	CJ093169.1	None	C57BL/6J