Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	30008
Gene name	EGF containing fibulin extracellular matrix protein 2
Gene symbol	EFEMP2
Synonyms (NCBI Gene)	ARCL1BFBLN4MBP1UPH1
Chromosome	11
Chromosome location	11q13.1
Summary	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 fat

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2234462	C>T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs119489101	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs119489102	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs144320036	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs148410446	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs193302864	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193302866	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193302867	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193302869	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193302870	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs397514683	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs888015688	C>G	Likely-pathogenic	Splice acceptor variant
rs1064796673	T>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all (55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000076	hsa-miR-346	MicroarrayqRT-PCR	16822819
MIRT000076	hsa-miR-346	Western blot;Other	21611196
MIRT021872	hsa-miR-128-3p	Microarray	17612493
MIRT569889	hsa-miR-4512	PAR-CLIP	20371350
MIRT569888	hsa-miR-3918	PAR-CLIP	20371350
MIRT569887	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT569886	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT569885	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT569884	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT569883	hsa-miR-660-3p	PAR-CLIP	20371350
MIRT569882	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT569881	hsa-miR-8073	PAR-CLIP	20371350
MIRT569880	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT569879	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT569889	hsa-miR-4512	PAR-CLIP	20371350
MIRT569888	hsa-miR-3918	PAR-CLIP	20371350
MIRT569887	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT569886	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT569885	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT569884	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT569883	hsa-miR-660-3p	PAR-CLIP	20371350
MIRT569882	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT569881	hsa-miR-8073	PAR-CLIP	20371350
MIRT569880	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT569879	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT569878	hsa-miR-1258	PAR-CLIP	20371350
MIRT569889	hsa-miR-4512	PAR-CLIP	20371350
MIRT569888	hsa-miR-3918	PAR-CLIP	20371350
MIRT569887	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT569886	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT569885	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT569884	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT569883	hsa-miR-660-3p	PAR-CLIP	20371350
MIRT569882	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT569881	hsa-miR-8073	PAR-CLIP	20371350
MIRT569880	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT569879	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT569889	hsa-miR-4512	PAR-CLIP	20371350
MIRT569888	hsa-miR-3918	PAR-CLIP	20371350
MIRT569887	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT569886	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT569885	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT569884	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT569883	hsa-miR-660-3p	PAR-CLIP	20371350
MIRT569882	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT569881	hsa-miR-8073	PAR-CLIP	20371350
MIRT569880	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT569879	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT569878	hsa-miR-1258	PAR-CLIP	20371350
MIRT1548208	hsa-miR-1915	CLIP-seq
MIRT1982353	hsa-miR-4469	CLIP-seq
MIRT2521242	hsa-miR-1224-3p	CLIP-seq
MIRT2521243	hsa-miR-3157-5p	CLIP-seq
MIRT2521244	hsa-miR-4691-3p	CLIP-seq
MIRT2521245	hsa-miR-4733-3p	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IEA
GO:0001527	Component	Microfibril	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	28327460
GO:0005201	Function	Extracellular matrix structural constituent	TAS	10601734
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 16478991, 16713569, 19349279, 19570982, 19855011, 22919265, 23088713, 25416956, 25910212, 26871637, 27339457, 29892012, 32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	ISS
GO:0005604	Component	Basement membrane	TAS	10601734
GO:0008201	Function	Heparin binding	IDA	23782690
GO:0031012	Component	Extracellular matrix	HDA	28327460
GO:0031012	Component	Extracellular matrix	IDA	20389311, 27339457
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS
GO:0035904	Process	Aorta development	IEA
GO:0035904	Process	Aorta development	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	23782690
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048251	Process	Elastic fiber assembly	IMP	18973305, 27339457
GO:0048251	Process	Elastic fiber assembly	ISS
GO:0060414	Process	Aorta smooth muscle tissue morphogenesis	IEA
GO:0060414	Process	Aorta smooth muscle tissue morphogenesis	ISS
GO:0060840	Process	Artery development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0071953	Component	Elastic fiber	IDA	27339457
GO:0071953	Component	Elastic fiber	IEA
GO:0071953	Component	Elastic fiber	ISS
GO:0097084	Process	Vascular associated smooth muscle cell development	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	ISS
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904026	Process	Regulation of collagen fibril organization	IEA
GO:1904026	Process	Regulation of collagen fibril organization	ISS
GO:1904028	Process	Positive regulation of collagen fibril organization	IEA
GO:1904028	Process	Positive regulation of collagen fibril organization	ISS
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IEA
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	ISS
GO:1904831	Process	Positive regulation of aortic smooth muscle cell differentiation	IEA
GO:1904831	Process	Positive regulation of aortic smooth muscle cell differentiation	ISS
GO:1905609	Process	Positive regulation of smooth muscle cell-matrix adhesion	IMP	23782690

MIM	HGNC	e!Ensembl
604633	3219	ENSG00000172638

O95967

Protein name

EGF-containing fibulin-like extracellular matrix protein 2 (Fibulin-4) (FIBL-4) (Protein UPH1)

Protein function

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 smo

PDB

2KL7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07645	EGF_CA	54 → 87	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	123 → 162	Calcium-binding EGF domain	Domain
PF12662	cEGF	183 → 206	Complement Clr-like EGF-like	Domain
PF07645	EGF_CA	283 → 329	Calcium-binding EGF domain	Domain

Sequence

MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLT
IPEACKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDS
CVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNL
PGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFS
CSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTC
VNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADV
FQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTM
NSLMSYRASSVLRLTVFVGAYTF

Sequence length

443

Interactions

View interactions

	Reactome
			Molecules associated with elastic fibres

679

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1859863045, rs763944898	RCV002331962 RCV002339579
Cutis laxa	Likely pathogenic	rs57685603	RCV004018137
Cutis laxa, autosomal recessive, type 1A	Pathogenic; Likely pathogenic	rs119489101, rs119489102, rs193302865, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866	RCV000032268 RCV000032275 RCV000032265 RCV000032266 RCV000032269 RCV000032270 RCV000032271 RCV000032272 RCV000032274
Cutis laxa, autosomal recessive, type 1B	Pathogenic; Likely pathogenic	rs2134747667, rs119489101, rs119489102, rs193302865, rs1859902707, rs1423701653, rs2495583852, rs2495580444, rs2495573872, rs2495579185, rs1565274421, rs1267180414, rs193302868, rs193302867, rs193302869 View all (13 more)	RCV001382781 RCV000005756 RCV000005757 RCV000005758 RCV002857374 RCV002966485 RCV003226820 RCV003528849 RCV003527933 RCV003644188 RCV003642393 RCV003990639 RCV000033128 RCV000033125 RCV000033126 RCV000033127 RCV000034873 RCV000023384 RCV000034874 RCV000649943 RCV000698216 RCV000805837 RCV001169986 RCV001219308 RCV001206195 RCV001213650 RCV001212965 RCV001261982
Familial aortopathy	Likely pathogenic; Pathogenic	rs761656636	RCV004800708

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cutis Laxa, Recessive	Uncertain significance	rs886048508, rs886048509, rs886048510, rs201135561	RCV000311766 RCV000347985 RCV000396236 RCV000396180
EFEMP2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs2234467, rs181514768, rs746751497, rs2234473, rs142509316, rs144320036, rs150546623, rs141310608, rs1307880504, rs369627072, rs144780990, rs377139656, rs765684268, rs376350227, rs146879673, rs377646143, rs770791862 View all (2 more)	RCV003931113 RCV003927514 RCV004750742 RCV003957579 RCV003950026 RCV003902611 RCV003905432 RCV003980005 RCV003403325 RCV003945291 RCV003952836 RCV003927964 RCV004751646 RCV004751672 RCV004751662 RCV004751743 RCV003892760
Familial thoracic aortic aneurysm and aortic dissection	Benign; Conflicting classifications of pathogenicity; Likely benign	rs633800, rs148410446, rs2234473, rs2234462, rs145853251, rs601314, rs113167523, rs546162289	RCV003485543 RCV003485576 RCV003485575 RCV003485591 RCV003485603 RCV003485525 RCV003485648 RCV003485677
Malignant tumor of urinary bladder	Uncertain significance	rs769750626	RCV005896920
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs61740381, rs377139656	RCV005896921 RCV005898836
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs768004972	RCV005924151

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	33083483
Aneurysm	Associate	20389311
Aneurysm Ascending Aorta	Associate	16685658
Aortic Aneurysm	Associate	20389311
Aortic Aneurysm Thoracic	Associate	26017485
Aortic Dissection	Associate	33083483
Arterial Tortuosity Syndrome	Associate	20389311
Breast Neoplasms	Associate	24470074
Breast Neoplasms	Inhibit	28282800
Cardiovascular Diseases	Associate	20389311
Carotid Artery Injuries	Associate	22943132
Chronic Disease	Stimulate	34080027
Colorectal Neoplasms	Associate	23372686, 28901407
Constriction Pathologic	Associate	20389311
Cutis Laxa	Associate	16685658, 31792352
Cutis laxa recessive	Associate	16685658
Death	Associate	22943132
Emphysema	Associate	16685658
Fibrosis	Associate	34508113
Fractures Bone	Associate	16685658
Funnel Chest	Associate	16685658
Glioblastoma	Associate	27116978, 30894197, 32396873, 38019838
Glioma	Stimulate	26617746
Glioma	Associate	30894197, 32396873
Hernia Diaphragmatic	Associate	16685658
Joint Instability	Associate	16685658
Lymphatic Metastasis	Stimulate	25885889
Neoplasm Metastasis	Associate	26617746
Neoplasms	Associate	25885889, 26617746, 32396873, 37420173
Neoplasms	Stimulate	28282800
Optic Nerve Hypoplasia	Associate	22943132
Osteopetrosis lethal	Associate	22943132
Osteosarcoma	Associate	36316642
Ovarian Neoplasms	Stimulate	25885889
Ovarian Neoplasms	Associate	28282800, 37420173
Retinal Detachment	Associate	39264086

EFEMP2 (EGF containing fibulin extracellular matrix protein 2)