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

Summary

Official Symbol: Efemp2provided by MGI
Official Full Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 2provided by MGI
Primary source: MGI:MGI:1891209
See related: Ensembl:ENSMUSG00000024909 AllianceGenome:MGI:1891209
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: MBP1; Fbln4; 0610011K11Rik
Summary: Predicted to enable heparin binding activity and protein homodimerization activity. Involved in several processes, including elastic fiber assembly; negative regulation of vascular associated smooth muscle cell proliferation; and vasculature development. Acts upstream of or within artery development. Located in basement membrane; elastic fiber; and microfibril. Is expressed in several structures, including central nervous system; genitourinary system; gut; immune system; and respiratory system. Used to study aortic aneurysm and cutis laxa. Human ortholog(s) of this gene implicated in aortic aneurysm; arterial tortuosity syndrome; autosomal recessive cutis laxa type IB; endometrial cancer; and osteosarcoma. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in limb E14.5 (RPKM 51.1), ovary adult (RPKM 49.4) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 4.33 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (5523974..5532548)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (5473946..5482520)

Chromosome 19 - NC_000085.7 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?

Changes in transmural mass transport correlate with ascending thoracic aortic aneurysm diameter in a fibulin-4 E57K knockin mouse model.
Title: Changes in transmural mass transport correlate with ascending thoracic aortic aneurysm diameter in a fibulin-4 E57K knockin mouse model.
Protective Role of Endothelial Fibulin-4 in Valvulo-Arterial Integrity.
Title: Protective Role of Endothelial Fibulin-4 in Valvulo-Arterial Integrity.
A matricellular protein fibulin-4 is essential for the activation of lysyl oxidase.
Title: A matricellular protein fibulin-4 is essential for the activation of lysyl oxidase.
Role of PAR1-Egr1 in the Initiation of Thoracic Aortic Aneurysm in Fbln4-Deficient Mice.
Title: Role of PAR1-Egr1 in the Initiation of Thoracic Aortic Aneurysm in Fbln4-Deficient Mice.
Fibulin-4 deficiency affects the cytoskeleton and its dynamics. Fibulin-4 mutant vascular smooth muscle cells show decreased cellular migration.
Title: Fibulin-4 deficiency differentially affects cytoskeleton structure and dynamics as well as TGFβ signaling.
In fibulin-4 mutant mice, altered mitochondrial function and metabolic dysregulation, leading to increased ROS levels and altered energy production, may contribute to thoracic aortic aneurysm formation via PGC1A regulation.
Title: Decreased mitochondrial respiration in aneurysmal aortas of Fibulin-4 mutant mice is linked to PGC1A regulation.
These data clearly establish a functional link between Ltbp-4L and fibulin-4 as a crucial molecular requirement for survival and elastogenesis in mice.
Title: Function of Ltbp-4L and fibulin-4 in survival and elastogenesis in mice.
fibulin-4 seems to play a role in regulating tendon collagen fibrillogenesis, in addition to its essential function in elastogenesis.
Title: Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice.
Findings suggested that fibulin-4 is important for the proteolytic activation of lysyl oxidase which has a pivotal role in cross-linking of collagen and elastin.
Title: Loss of fibulin-4 results in abnormal collagen fibril assembly in bone, caused by impaired lysyl oxidase processing and collagen cross-linking.
These data provide new insights in the molecular interaction between Fibulin-4 and TGF-beta pathway regulation in the pathogenesis of aortic aneurysms.
Title: Fibulin-4 deficiency increases TGF-β signalling in aortic smooth muscle cells due to elevated TGF-β2 levels.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix constituent conferring elasticity	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables heparin binding	ISO Inferred from Sequence Orthology more info
enables heparin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aorta smooth muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within artery development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within elastic fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in elastic fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in elastic fiber assembly	ISO Inferred from Sequence Orthology more info
involved_in elastic fiber assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of vascular associated smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of aortic smooth muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of smooth muscle cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of smooth muscle cell-matrix adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vascular associated smooth muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in elastic fiber	IMP Inferred from Mutant Phenotype more info	PubMed
located_in elastic fiber	ISO Inferred from Sequence Orthology more info
located_in elastic fiber	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in microfibril	IDA Inferred from Direct Assay 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 (Efemp2); FIBL-4; fibulin-4; mutant p53-binding protein 1

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

See identical proteins and their annotated locations for NP_001157824.1

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, Q9JM06

Related

ENSMUSP00000064719.8, ENSMUST00000070118.14

Conserved Domains (3) summary

smart00179
Location:142 → 182

EGF_CA; Calcium-binding EGF-like domain

cl00057
Location:217 → 257

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:302 → 329

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_001374680.1 → NP_001361609.1 EGF-containing fibulin-like extracellular matrix protein 2 isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AC126029

UniProtKB/TrEMBL

A0A494BBF0, Q9JM06

Related

ENSMUSP00000158440.2, ENSMUST00000235523.2

Conserved Domains (4) summary

smart00179
Location:135 → 175

EGF_CA; Calcium-binding EGF-like domain

pfam12662
Location:236 → 258

cEGF; Complement Clr-like EGF-like

cl00057
Location:210 → 250

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:295 → 322

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

See identical proteins and their annotated locations for NP_067449.3

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/Swiss-Prot

Q9WVJ9

UniProtKB/TrEMBL

Q542X5, Q9JM06

Related

ENSMUSP00000133016.2, ENSMUST00000165485.8

Conserved Domains (4) summary

smart00179
Location:123 → 163

EGF_CA; Calcium-binding EGF-like domain

pfam12662
Location:224 → 246

cEGF; Complement Clr-like EGF-like

cl00057
Location:198 → 238

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:283 → 310

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_000085.7 Reference GRCm39 C57BL/6J

Range

5523974..5532548

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030251013.1 → XP_030106873.1 EGF-containing fibulin-like extracellular matrix protein 2 isoform X2

UniProtKB/Swiss-Prot

Q9WVJ9

UniProtKB/TrEMBL

Q542X5, Q9JM06

Related

ENSMUSP00000128827.3, ENSMUST00000166303.9

Conserved Domains (4) summary

smart00179
Location:123 → 163

EGF_CA; Calcium-binding EGF-like domain

pfam12662
Location:224 → 246

cEGF; Complement Clr-like EGF-like

cl00057
Location:198 → 238

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:283 → 310

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_006531807.1 → XP_006531870.1 EGF-containing fibulin-like extracellular matrix protein 2 isoform X1

UniProtKB/TrEMBL

Q9JM06

Conserved Domains (4) summary

smart00179
Location:125 → 165

EGF_CA; Calcium-binding EGF-like domain

pfam12662
Location:226 → 248

cEGF; Complement Clr-like EGF-like

cl00057
Location:200 → 240

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 → 312

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_006531808.1 → XP_006531871.1 EGF-containing fibulin-like extracellular matrix protein 2 isoform X2

See identical proteins and their annotated locations for XP_006531871.1

UniProtKB/Swiss-Prot

Q9WVJ9

UniProtKB/TrEMBL

Q542X5, Q9JM06

Conserved Domains (4) summary

smart00179
Location:123 → 163

EGF_CA; Calcium-binding EGF-like domain

pfam12662
Location:224 → 246

cEGF; Complement Clr-like EGF-like

cl00057
Location:198 → 238

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:283 → 310

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_006531809.1 → XP_006531872.1 EGF-containing fibulin-like extracellular matrix protein 2 isoform X3

UniProtKB/TrEMBL

Q9JM06

Conserved Domains (4) summary

smart00179
Location:101 → 141

EGF_CA; Calcium-binding EGF-like domain

pfam12662
Location:202 → 224

cEGF; Complement Clr-like EGF-like

cl00057
Location:176 → 216

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:261 → 288

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_006531810.4 → XP_006531873.1 EGF-containing fibulin-like extracellular matrix protein 2 isoform X4

UniProtKB/TrEMBL

Q9JM06

Conserved Domains (4) summary

smart00179
Location:55 → 95

EGF_CA; Calcium-binding EGF-like domain

pfam12662
Location:156 → 178

cEGF; Complement Clr-like EGF-like

cl00057
Location:130 → 170

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:215 → 242

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 ...