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Guidelines

MIRAGE

EGF-like fibulin extracellular matrix protein 2

Summary

Gene Symbol

EFEMP2

Organism

Homo sapiens (human)

External Links

NCBI Gene

30008

PubChem

30008

Alliance of Genome Resources

HGNC:3219

JoGo

EFEMP2

TogoVar

EFEMP2

Annotation

Keyword

3D-structure
Basement membrane
Calcium
Direct protein sequencing
Disease variant
Disulfide bond
EGF-like domain
Extracellular matrix
Glycoprotein
Proteomics identification
Reference proteome
Repeat
Signal

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q9H3D5
O95967	Fibulin-4 Protein UPH1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 19 in total

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GO Term	Evidence Code	PMID
aorta development	ISS
aorta development	IEA
elastic fiber assembly	ISS
elastic fiber assembly	IMP
elastic fiber assembly	IBA

GO Hierarchy

biological process

cellular process [inference]

cellular developmental process [inference]

cell development [inference]

muscle cell development [inference]

vascular associated smooth muscle cell development

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

extracellular matrix assembly [inference]

elastic fiber assembly

extracellular structure organization [inference]

extracellular matrix organization [inference]

extracellular matrix assembly [inference]

elastic fiber assembly

external encapsulating structure organization [inference]

extracellular matrix organization [inference]

extracellular matrix assembly [inference]

elastic fiber assembly

supramolecular fiber organization [inference]

elastic fiber assembly

developmental process [inference]

anatomical structure morphogenesis [inference]

tissue morphogenesis [inference]

muscle tissue morphogenesis [inference]

aorta smooth muscle tissue morphogenesis

anatomical structure development [inference]

blood vessel development [inference]

artery development [inference]

aorta development

cell development [inference]

muscle cell development [inference]

vascular associated smooth muscle cell development

cellular developmental process [inference]

cell development [inference]

muscle cell development [inference]

vascular associated smooth muscle cell development

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell differentiation [inference]

positive regulation of muscle cell differentiation [inference]

positive regulation of smooth muscle cell differentiation [inference]

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

positive regulation of cell adhesion [inference]

positive regulation of cell-substrate adhesion [inference]

positive regulation of cell-matrix adhesion [inference]

positive regulation of smooth muscle cell-matrix adhesion

positive regulation of cellular component organization [inference]

positive regulation of extracellular matrix organization [inference]

positive regulation of collagen fibril organization

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of muscle cell differentiation [inference]

positive regulation of smooth muscle cell differentiation [inference]

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell population proliferation [inference]

negative regulation of smooth muscle cell proliferation [inference]

negative regulation of vascular associated smooth muscle cell proliferation

regulation of developmental process [inference]

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of muscle cell differentiation [inference]

positive regulation of smooth muscle cell differentiation [inference]

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

regulation of muscle cell differentiation [inference]

positive regulation of muscle cell differentiation [inference]

positive regulation of smooth muscle cell differentiation [inference]

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

regulation of smooth muscle cell differentiation [inference]

positive regulation of smooth muscle cell differentiation [inference]

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

regulation of vascular associated smooth muscle cell differentiation [inference]

regulation of aortic smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of muscle cell differentiation [inference]

positive regulation of smooth muscle cell differentiation [inference]

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

regulation of cellular process [inference]

regulation of cell adhesion [inference]

regulation of cell-substrate adhesion [inference]

regulation of cell-matrix adhesion [inference]

positive regulation of cell-matrix adhesion [inference]

positive regulation of smooth muscle cell-matrix adhesion

regulation of smooth muscle cell-matrix adhesion [inference]

positive regulation of smooth muscle cell-matrix adhesion

positive regulation of cell-substrate adhesion [inference]

positive regulation of cell-matrix adhesion [inference]

positive regulation of smooth muscle cell-matrix adhesion

positive regulation of cell adhesion [inference]

positive regulation of cell-substrate adhesion [inference]

positive regulation of cell-matrix adhesion [inference]

positive regulation of smooth muscle cell-matrix adhesion

regulation of cell population proliferation [inference]

negative regulation of cell population proliferation [inference]

negative regulation of smooth muscle cell proliferation [inference]

negative regulation of vascular associated smooth muscle cell proliferation

regulation of smooth muscle cell proliferation [inference]

negative regulation of smooth muscle cell proliferation [inference]

negative regulation of vascular associated smooth muscle cell proliferation

regulation of vascular associated smooth muscle cell proliferation [inference]

negative regulation of vascular associated smooth muscle cell proliferation

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of muscle cell differentiation [inference]

positive regulation of smooth muscle cell differentiation [inference]

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

regulation of muscle cell differentiation [inference]

positive regulation of muscle cell differentiation [inference]

positive regulation of smooth muscle cell differentiation [inference]

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

regulation of smooth muscle cell differentiation [inference]

positive regulation of smooth muscle cell differentiation [inference]

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

regulation of vascular associated smooth muscle cell differentiation [inference]

regulation of aortic smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

positive regulation of cellular process [inference]

positive regulation of cell differentiation [inference]

positive regulation of muscle cell differentiation [inference]

positive regulation of smooth muscle cell differentiation [inference]

positive regulation of vascular associated smooth muscle cell differentiation [inference]

positive regulation of aortic smooth muscle cell differentiation

positive regulation of cell adhesion [inference]

positive regulation of cell-substrate adhesion [inference]

positive regulation of cell-matrix adhesion [inference]

positive regulation of smooth muscle cell-matrix adhesion

positive regulation of cellular component organization [inference]

positive regulation of extracellular matrix organization [inference]

positive regulation of collagen fibril organization

negative regulation of cellular process [inference]

negative regulation of cell population proliferation [inference]

negative regulation of smooth muscle cell proliferation [inference]

negative regulation of vascular associated smooth muscle cell proliferation

regulation of cellular component organization [inference]

positive regulation of cellular component organization [inference]

positive regulation of extracellular matrix organization [inference]

positive regulation of collagen fibril organization

regulation of extracellular matrix organization [inference]

positive regulation of extracellular matrix organization [inference]

positive regulation of collagen fibril organization

regulation of collagen fibril organization

positive regulation of collagen fibril organization

Displaying entries **1 - 5** of 15 in total

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GO Term	Evidence Code	PMID
microfibril
extracellular region	TAS
extracellular region	IBA
basement membrane	ISS
basement membrane	TAS

GO Hierarchy

cellular component

cellular anatomical structure [inference]

extracellular region

external encapsulating structure [inference]

extracellular matrix

basement membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle

extracellular exosome

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
extracellular matrix structural constituent	RCA
extracellular matrix structural constituent	TAS
calcium ion binding	IEA
protein binding	IPI
heparin binding	IDA

GO Hierarchy

molecular function

structural molecule activity [inference]

extracellular matrix structural constituent

binding [inference]

protein binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

carbohydrate derivative binding [inference]

glycosaminoglycan binding [inference]

heparin binding

sulfur compound binding [inference]

heparin binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

EGF-containing fibulin-like extracellular matrix protein 2

Functional Category

M: Cell wall/membrane/envelope biogenesis
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
calcium ion binding

Displaying **all 7** entries
InterPro
Complement Clr-like EGF domain
EGF-like calcium-binding domain
EGF-like calcium-binding, conserved site
EGF-like domain
EGF-type aspartate/asparagine hydroxylation site
Growth factor receptor cysteine-rich domain superfamily
NOTCH1 EGF-like calcium-binding domain

Disease

Disease Ontology

Displaying **all 5** entries
DO ID	Disease Name	Source
DOID:0050645	arterial tortuosity syndrome	Alliance of Genome Resources
DOID:0070133	autosomal recessive cutis laxa type IB	Alliance of Genome Resources
DOID:1380	endometrial cancer	Alliance of Genome Resources
DOID:3347	osteosarcoma	Alliance of Genome Resources
DOID:3627	aortic aneurysm	Alliance of Genome Resources

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026