EFEMP2

Chr 11q13.1

EGF-like fibulin extracellular matrix protein 2

Aliases:: FBLN4, UPH1
MANE:: ENST00000307998.11

OMIM: 604633 ↗NCBI: 30008 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

EFEMP2 · O95967

v62025-08-01

Predicted Aligned Error matrix for EFEMP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.4/ 100

Confident

443 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)31%
Low(50–70)2%
Very low(< 50)13%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection
BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS)
BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders
BIALLELIC, autosomal or pseudoautosomal
Familial pulmonary fibrosis
Pneumothorax - familial
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive cutis laxa type 1
0.70
Abnormality of the cardiovascular system
0.48
aortic aneurysm
0.47
cutis laxa
0.44
Abnormality of the skeletal system
0.43
familial thoracic aortic aneurysm and aortic dissection
0.41
basal cell carcinoma
0.37
lethal arteriopathy syndrome due to fibulin-4 deficiency
0.37
Familial hemophagocytic lymphohistiocytosis
0.34
neurodegenerative disease
0.32

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

EGF-containing fibulin-like extracellular matrix protein 2

Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in terminal differentiation and maturation of smooth muscle cell (SMC) and in the mechanical properties and wall integrity maintenance of the aorta (PubMed:27339457). In addition, is involved in the control of collagen fibril assembly in tissue throught proteolytic activation of LOX leading to cross- linking of collagen and elastin (By similarity). Also promotes ELN coacervation and participates in the deposition of ELN coacervates on to microfibrils but also regulates ELN cross- linking through LOX interaction (PubMed:18973305, PubMed:19570982). Moreover adheres to the cells through heparin binding in a calcium-dependent manner and regulates vascularlar smooth muscle cells proliferation through angiotensin signaling (PubMed:23782690)