EFEMP2

EGF-like fibulin extracellular matrix protein 2 | FBLN4, UPH1

A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]

Developmental clusters: GC6

Biological processes 38 terms

aorta development (GO:0035904)aorta development (GO:0035904)aorta smooth muscle tissue morphogenesis (GO:0060414)aorta smooth muscle tissue morphogenesis (GO:0060414)basement membrane (GO:0005604)basement membrane (GO:0005604)basement membrane (GO:0005604)calcium ion binding (GO:0005509)elastic fiber (GO:0071953)elastic fiber (GO:0071953)elastic fiber (GO:0071953)elastic fiber (GO:0071953)elastic fiber assembly (GO:0048251)elastic fiber assembly (GO:0048251)elastic fiber assembly (GO:0048251)elastic fiber assembly (GO:0048251)extracellular exosome (GO:0070062)extracellular matrix (GO:0031012)extracellular matrix (GO:0031012)extracellular matrix structural constituent (GO:0005201)extracellular matrix structural constituent (GO:0005201)extracellular region (GO:0005576)extracellular region (GO:0005576)extracellular vesicle (GO:1903561)heparin binding (GO:0008201)negative regulation of vascular associated smooth muscle cell proliferation (GO:1904706)negative regulation of vascular associated smooth muscle cell proliferation (GO:1904706)positive regulation of aortic smooth muscle cell differentiation (GO:1904831)positive regulation of aortic smooth muscle cell differentiation (GO:1904831)positive regulation of collagen fibril organization (GO:1904028)positive regulation of collagen fibril organization (GO:1904028)positive regulation of smooth muscle cell-matrix adhesion (GO:1905609)protein binding (GO:0005515)protein homodimerization activity (GO:0042803)regulation of collagen fibril organization (GO:1904026)regulation of collagen fibril organization (GO:1904026)vascular associated smooth muscle cell development (GO:0097084)vascular associated smooth muscle cell development (GO:0097084)

Expression (TPM)

TFs regulating EFEMP2 0 TFs

Transcription factors with Perturb-seq knockdown data for EFEMP2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = EFEMP2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

TF	Mean coef	Binding	Outlier	TF→Gene link

Rows:

Elements linked to EFEMP2

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of EFEMP2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Element	Dist. to TSS	Link type	TFs
chr11:65,571,973–65,573,008	301.1 kb	Distal (>10kb) Multiome	420
chr11:65,573,788–65,575,269	299.3 kb	Distal (>10kb) Multiome	742
chr11:65,575,601–65,576,322	297.6 kb	Distal (>10kb) Multiome	527
chr11:65,591,808–65,592,698	281.4 kb	Distal (>10kb) Multiome	169
chr11:65,606,536–65,607,917	266.4 kb	Distal (>10kb) Multiome	376
chr11:65,613,478–65,614,645	259.4 kb	Distal (>10kb) Multiome	702
chr11:65,614,954–65,616,793	258.1 kb	Distal (>10kb) Multiome	830
chr11:65,637,768–65,638,920	235.5 kb	Distal (>10kb) Multiome	740
chr11:65,641,918–65,642,633	231.4 kb	Distal (>10kb) Multiome	155
chr11:65,646,814–65,647,818	226.3 kb	Distal (>10kb) Multiome	270
chr11:65,652,106–65,653,317	220.8 kb	Distal (>10kb) Multiome	901
chr11:65,662,517–65,663,930	210.5 kb	Distal (>10kb) Multiome	839
chr11:65,711,437–65,712,942	161.3 kb	Distal (>10kb) Multiome	1143
chr11:65,720,215–65,720,955	152.9 kb	Distal (>10kb) Multiome	821
chr11:65,779,808–65,781,988	93.5 kb	Distal (>10kb) Multiome	764
chr11:65,785,898–65,789,101	85.2 kb	Distal (>10kb) Multiome	478
chr11:65,817,968–65,818,502	55.3 kb	Distal (>10kb) Multiome	694
chr11:65,833,325–65,834,189	39.8 kb	Distal (>10kb) Multiome	396
chr11:65,856,804–65,858,748	16.5 kb	Distal (>10kb) Multiome	972
chr11:65,859,034–65,861,240	13.0 kb	Distal (>10kb) Multiome	1012
chr11:65,871,920–65,874,072	111 bp	At TSS Multiome	741
chr11:65,887,987–65,889,162	15.0 kb	Distal (>10kb) Multiome	824
chr11:65,890,253–65,891,457	17.0 kb	Distal (>10kb) Multiome	895
chr11:65,899,867–65,900,779	27.0 kb	Distal (>10kb) Multiome	740
chr11:65,918,507–65,920,266	45.7 kb	Distal (>10kb) Multiome	992
chr11:65,961,271–65,962,172	88.1 kb	Distal (>10kb) Multiome	834
chr11:66,001,882–66,002,962	128.8 kb	Distal (>10kb) Multiome	1022
chr11:66,007,227–66,007,703	133.9 kb	Distal (>10kb) Multiome	100
chr11:66,022,341–66,022,903	149.0 kb	Distal (>10kb) Multiome	466
chr11:66,045,170–66,045,637	171.7 kb	Distal (>10kb) Multiome	394
chr11:66,048,912–66,049,460	175.6 kb	Distal (>10kb) Multiome	83
chr11:66,051,716–66,052,760	178.6 kb	Distal (>10kb) Multiome	901
chr11:66,069,690–66,071,102	196.5 kb	Distal (>10kb) Multiome	622

Genome Browser

Genomic view of the EFEMP2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.