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	2202
Gene name	EGF containing fibulin extracellular matrix protein 1
Gene symbol	EFEMP1
Synonyms (NCBI Gene)	ARCL1DDHRDDRADFBLN3FBNLFIBL-3GLC1HMLVTMTLVS1-5
Chromosome	2
Chromosome location	2p16.1
Summary	This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs765517862	A>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1572850869	CATGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572851186	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant

176

Show/Hide all (176)

miRTarBase ID	miRNA	Experiments
MIRT953659	hsa-miR-101	CLIP-seq
MIRT953660	hsa-miR-1225-5p	CLIP-seq
MIRT953661	hsa-miR-1226	CLIP-seq
MIRT953662	hsa-miR-1273e	CLIP-seq
MIRT953663	hsa-miR-133a	CLIP-seq
MIRT953664	hsa-miR-133b	CLIP-seq
MIRT953665	hsa-miR-144	CLIP-seq
MIRT953666	hsa-miR-186	CLIP-seq
MIRT953667	hsa-miR-197	CLIP-seq
MIRT953668	hsa-miR-3127-5p	CLIP-seq
MIRT953669	hsa-miR-3140-5p	CLIP-seq
MIRT953670	hsa-miR-3144-3p	CLIP-seq
MIRT953671	hsa-miR-3156-3p	CLIP-seq
MIRT953672	hsa-miR-3163	CLIP-seq
MIRT953673	hsa-miR-3177-5p	CLIP-seq
MIRT953674	hsa-miR-365	CLIP-seq
MIRT953675	hsa-miR-3668	CLIP-seq
MIRT953676	hsa-miR-3691-3p	CLIP-seq
MIRT953677	hsa-miR-3935	CLIP-seq
MIRT953678	hsa-miR-3976	CLIP-seq
MIRT953679	hsa-miR-4270	CLIP-seq
MIRT953680	hsa-miR-4280	CLIP-seq
MIRT953681	hsa-miR-4281	CLIP-seq
MIRT953682	hsa-miR-4301	CLIP-seq
MIRT953683	hsa-miR-4441	CLIP-seq
MIRT953684	hsa-miR-4452	CLIP-seq
MIRT953685	hsa-miR-4496	CLIP-seq
MIRT953686	hsa-miR-4680-3p	CLIP-seq
MIRT953687	hsa-miR-4733-3p	CLIP-seq
MIRT953688	hsa-miR-4795-3p	CLIP-seq
MIRT953689	hsa-miR-5096	CLIP-seq
MIRT953690	hsa-miR-587	CLIP-seq
MIRT953659	hsa-miR-101	CLIP-seq
MIRT1548201	hsa-miR-1262	CLIP-seq
MIRT953665	hsa-miR-144	CLIP-seq
MIRT1548202	hsa-miR-28-3p	CLIP-seq
MIRT1548203	hsa-miR-3115	CLIP-seq
MIRT953673	hsa-miR-3177-5p	CLIP-seq
MIRT1548204	hsa-miR-3659	CLIP-seq
MIRT953675	hsa-miR-3668	CLIP-seq
MIRT953677	hsa-miR-3935	CLIP-seq
MIRT953678	hsa-miR-3976	CLIP-seq
MIRT953684	hsa-miR-4452	CLIP-seq
MIRT1548205	hsa-miR-4658	CLIP-seq
MIRT1548206	hsa-miR-4701-3p	CLIP-seq
MIRT1548207	hsa-miR-574-5p	CLIP-seq
MIRT953659	hsa-miR-101	CLIP-seq
MIRT953662	hsa-miR-1273e	CLIP-seq
MIRT953663	hsa-miR-133a	CLIP-seq
MIRT953664	hsa-miR-133b	CLIP-seq
MIRT953665	hsa-miR-144	CLIP-seq
MIRT953666	hsa-miR-186	CLIP-seq
MIRT953667	hsa-miR-197	CLIP-seq
MIRT1548202	hsa-miR-28-3p	CLIP-seq
MIRT953671	hsa-miR-3156-3p	CLIP-seq
MIRT953673	hsa-miR-3177-5p	CLIP-seq
MIRT1556259	hsa-miR-3591-5p	CLIP-seq
MIRT953675	hsa-miR-3668	CLIP-seq
MIRT1556260	hsa-miR-3681	CLIP-seq
MIRT953676	hsa-miR-3691-3p	CLIP-seq
MIRT953677	hsa-miR-3935	CLIP-seq
MIRT953678	hsa-miR-3976	CLIP-seq
MIRT953681	hsa-miR-4281	CLIP-seq
MIRT953682	hsa-miR-4301	CLIP-seq
MIRT1556261	hsa-miR-4317	CLIP-seq
MIRT1556262	hsa-miR-4460	CLIP-seq
MIRT953685	hsa-miR-4496	CLIP-seq
MIRT1556263	hsa-miR-4727-3p	CLIP-seq
MIRT1556264	hsa-miR-4735-5p	CLIP-seq
MIRT953689	hsa-miR-5096	CLIP-seq
MIRT1548203	hsa-miR-3115	CLIP-seq
MIRT953670	hsa-miR-3144-3p	CLIP-seq
MIRT953674	hsa-miR-365	CLIP-seq
MIRT953678	hsa-miR-3976	CLIP-seq
MIRT953684	hsa-miR-4452	CLIP-seq
MIRT953661	hsa-miR-1226	CLIP-seq
MIRT953662	hsa-miR-1273e	CLIP-seq
MIRT2521224	hsa-miR-1279	CLIP-seq
MIRT953663	hsa-miR-133a	CLIP-seq
MIRT953664	hsa-miR-133b	CLIP-seq
MIRT2521225	hsa-miR-140-3p	CLIP-seq
MIRT953666	hsa-miR-186	CLIP-seq
MIRT953667	hsa-miR-197	CLIP-seq
MIRT2521226	hsa-miR-29a	CLIP-seq
MIRT2521227	hsa-miR-29b	CLIP-seq
MIRT2521228	hsa-miR-29c	CLIP-seq
MIRT2521229	hsa-miR-3120-3p	CLIP-seq
MIRT953671	hsa-miR-3156-3p	CLIP-seq
MIRT2521230	hsa-miR-3185	CLIP-seq
MIRT2521231	hsa-miR-325	CLIP-seq
MIRT2521232	hsa-miR-338-3p	CLIP-seq
MIRT1556259	hsa-miR-3591-5p	CLIP-seq
MIRT2521233	hsa-miR-3672	CLIP-seq
MIRT1556260	hsa-miR-3681	CLIP-seq
MIRT953676	hsa-miR-3691-3p	CLIP-seq
MIRT2521234	hsa-miR-3908	CLIP-seq
MIRT953680	hsa-miR-4280	CLIP-seq
MIRT953681	hsa-miR-4281	CLIP-seq
MIRT953682	hsa-miR-4301	CLIP-seq
MIRT1556261	hsa-miR-4317	CLIP-seq
MIRT1556262	hsa-miR-4460	CLIP-seq
MIRT953685	hsa-miR-4496	CLIP-seq
MIRT2521235	hsa-miR-4503	CLIP-seq
MIRT2521236	hsa-miR-4633-3p	CLIP-seq
MIRT2521237	hsa-miR-4635	CLIP-seq
MIRT2521238	hsa-miR-4709-3p	CLIP-seq
MIRT1556263	hsa-miR-4727-3p	CLIP-seq
MIRT953687	hsa-miR-4733-3p	CLIP-seq
MIRT953689	hsa-miR-5096	CLIP-seq
MIRT2521239	hsa-miR-548c-3p	CLIP-seq
MIRT2521240	hsa-miR-628-3p	CLIP-seq
MIRT2521241	hsa-miR-634	CLIP-seq
MIRT953661	hsa-miR-1226	CLIP-seq
MIRT953662	hsa-miR-1273e	CLIP-seq
MIRT2679783	hsa-miR-1297	CLIP-seq
MIRT953663	hsa-miR-133a	CLIP-seq
MIRT953664	hsa-miR-133b	CLIP-seq
MIRT2521225	hsa-miR-140-3p	CLIP-seq
MIRT953666	hsa-miR-186	CLIP-seq
MIRT953667	hsa-miR-197	CLIP-seq
MIRT2679784	hsa-miR-26a	CLIP-seq
MIRT2679785	hsa-miR-26b	CLIP-seq
MIRT2521226	hsa-miR-29a	CLIP-seq
MIRT2521227	hsa-miR-29b	CLIP-seq
MIRT2521228	hsa-miR-29c	CLIP-seq
MIRT953671	hsa-miR-3156-3p	CLIP-seq
MIRT2521230	hsa-miR-3185	CLIP-seq
MIRT2521231	hsa-miR-325	CLIP-seq
MIRT2679786	hsa-miR-340	CLIP-seq
MIRT1556259	hsa-miR-3591-5p	CLIP-seq
MIRT2679787	hsa-miR-3606	CLIP-seq
MIRT2679788	hsa-miR-3616-5p	CLIP-seq
MIRT2679789	hsa-miR-3647-5p	CLIP-seq
MIRT953674	hsa-miR-365	CLIP-seq
MIRT2521233	hsa-miR-3672	CLIP-seq
MIRT1556260	hsa-miR-3681	CLIP-seq
MIRT953676	hsa-miR-3691-3p	CLIP-seq
MIRT953680	hsa-miR-4280	CLIP-seq
MIRT953681	hsa-miR-4281	CLIP-seq
MIRT953682	hsa-miR-4301	CLIP-seq
MIRT1556261	hsa-miR-4317	CLIP-seq
MIRT1556262	hsa-miR-4460	CLIP-seq
MIRT2679790	hsa-miR-4465	CLIP-seq
MIRT953685	hsa-miR-4496	CLIP-seq
MIRT2521235	hsa-miR-4503	CLIP-seq
MIRT2521236	hsa-miR-4633-3p	CLIP-seq
MIRT2521237	hsa-miR-4635	CLIP-seq
MIRT2679791	hsa-miR-4639-3p	CLIP-seq
MIRT2679792	hsa-miR-4659a-3p	CLIP-seq
MIRT2679793	hsa-miR-4659b-3p	CLIP-seq
MIRT2679794	hsa-miR-4677-3p	CLIP-seq
MIRT2679795	hsa-miR-4679	CLIP-seq
MIRT2521238	hsa-miR-4709-3p	CLIP-seq
MIRT1556263	hsa-miR-4727-3p	CLIP-seq
MIRT953687	hsa-miR-4733-3p	CLIP-seq
MIRT1556264	hsa-miR-4735-5p	CLIP-seq
MIRT2679796	hsa-miR-4755-3p	CLIP-seq
MIRT2679797	hsa-miR-4782-5p	CLIP-seq
MIRT2679798	hsa-miR-4795-5p	CLIP-seq
MIRT953689	hsa-miR-5096	CLIP-seq
MIRT2679799	hsa-miR-513a-3p	CLIP-seq
MIRT2679800	hsa-miR-539	CLIP-seq
MIRT2679801	hsa-miR-548aa	CLIP-seq
MIRT2679802	hsa-miR-548ac	CLIP-seq
MIRT2679803	hsa-miR-548ae	CLIP-seq
MIRT2679804	hsa-miR-548aj	CLIP-seq
MIRT2679805	hsa-miR-548am	CLIP-seq
MIRT2679806	hsa-miR-548d-3p	CLIP-seq
MIRT2679807	hsa-miR-548u	CLIP-seq
MIRT2679808	hsa-miR-548x	CLIP-seq
MIRT2679809	hsa-miR-548z	CLIP-seq
MIRT2679810	hsa-miR-573	CLIP-seq
MIRT2679811	hsa-miR-590-3p	CLIP-seq
MIRT2521240	hsa-miR-628-3p	CLIP-seq
MIRT2679812	hsa-miR-668	CLIP-seq
MIRT2679813	hsa-miR-921	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005006	Function	Epidermal growth factor receptor activity	IDA	19804359
GO:0005154	Function	Epidermal growth factor receptor binding	IDA	19804359
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 28675934
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12620389, 16189514, 16713569, 18985028, 19275936, 21653829, 25416956, 25910212, 26871637, 31515488, 32296183, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380
GO:0005615	Component	Extracellular space	IDA	20005202
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	20005202
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	19804359
GO:0007601	Process	Visual perception	TAS	10369267
GO:0008083	Function	Growth factor activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	19804359
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	IMP	35998264
GO:0031012	Component	Extracellular matrix	TAS	10369267
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IDA	20005202
GO:0043010	Process	Camera-type eye development	IEP	25406291
GO:0048048	Process	Embryonic eye morphogenesis	IEP	25406291
GO:0048050	Process	Post-embryonic eye morphogenesis	IEP	25406291
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
601548	3218	ENSG00000115380

Q12805

Protein name

EGF-containing fibulin-like extracellular matrix protein 1 (Extracellular protein S1-5) (Fibrillin-like protein) (Fibulin-3) (FIBL-3)

Protein function

Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfa

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07645	EGF_CA	44 → 85	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	173 → 212	Calcium-binding EGF domain	Domain
PF12662	cEGF	234 → 257	Complement Clr-like EGF-like	Domain
PF12662	cEGF	274 → 297	Complement Clr-like EGF-like	Domain
PF07645	EGF_CA	334 → 381	Calcium-binding EGF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: In the eye, associated with photoreceptor outer and inner segment regions, the nerve fiber layer, outer nuclear layer and inner and outer plexiform layers of the retina. {ECO:0000269|PubMed:12242346, ECO:0000269|PubMed:20005202}.

Sequence

MLKALFLTMLTLALVKSQDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMK
CVNHYGGYLCLPKTAQIIVNNEQPQQETQPAEGTSGATTGVVAASSMATSGVLPGGGFVA
SAAAVAGPEMQTGRNNFVIRRNPADPQRIPSNPSHRIQCAAGYEQSEHNVCQDIDECTAG
THNCRADQVCINLRGSFACQCPPGYQKRGEQCVDIDECTIPPYCHQRCVNTPGSFYCQCS
PGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCNQGYELSSDRLNCEDIDECRT
SSYLCQYQCVNEPGKFSCMCPQGYQVVRSRTCQDINECETTNECREDEMCWNYHGGFRCY
PRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMSIRSDRSVPSDIFQIQATTIYA
NTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGPREHIVDLEMLTVSSIGTFRTSS
VLRLTIIVGPFSF

Sequence length

493

Interactions

View interactions

	Reactome
			Molecules associated with elastic fibres

111

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Blindness	Likely pathogenic	rs1553348960	RCV000626733
Cutis laxa	Pathogenic	rs2104369155	RCV001354060
Cutis laxa, autosomal recessive, type 1d	Pathogenic	rs2104369155, rs765517862, rs1572850869	RCV003991511 RCV003991509 RCV003991508
Doyne honeycomb retinal dystrophy	Likely pathogenic; Pathogenic	rs121434491	RCV000008539
EFEMP1-related disorder	Likely pathogenic	rs2465744658	RCV003410457
Glaucoma 1, open angle, H	Pathogenic	rs2104452781, rs2104360072	RCV003892045 RCV003892046
Glaucoma of childhood	Pathogenic; Likely pathogenic	rs2104452781, rs2104360072, rs1448130623	RCV001718566 RCV001718567 RCV001716245
Macular dystrophy	Likely pathogenic	rs1553348960	RCV000626733
Night blindness	Likely pathogenic	rs1553348960	RCV000626733
Optic disc drusen	Likely pathogenic	rs1553348960	RCV000626733
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121434491	RCV001074275
Retinal pigment epithelial atrophy	Likely pathogenic	rs1553348960	RCV000626733

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Uncertain significance	rs1307987501	RCV005920713
Optic atrophy	Uncertain significance	rs369629631	RCV004815679
Recessive Marfanoid Syndrome with Severe Herniation	Uncertain significance	rs1572851186	RCV001005053

Show/Hide Text Mining Associations (89)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	26950848
Amyotrophic Lateral Sclerosis	Associate	32792518
Arachnodactyly	Associate	38348595
Autism Spectrum Disorder	Associate	32393163
Basal Laminar Drusen	Associate	27007659
Biliary Atresia	Associate	36114336
Blindness	Associate	34923728
Breast Neoplasms	Stimulate	20132413
Calcinosis	Inhibit	29689558
Carcinoma Hepatocellular	Inhibit	23936443
Carotid Stenosis	Associate	38348595
Carpal Tunnel Syndrome	Associate	30833571
Colorectal Neoplasms	Associate	21796503, 38172877
Connective Tissue Diseases	Associate	31792352, 33807164
Cutis Laxa	Associate	22872678, 33807164
Dementia Vascular	Associate	39909351
Diverticulum	Associate	38348595
Doyne honeycomb retinal dystrophy	Associate	12242346, 18791549, 19850834, 22031286, 22872678, 23230284, 25077532, 25082885, 25389134, 25481286, 30541486, 30626431, 31792352, 33542268, 33689237, 34559486, 34923728 View all (2 more)
Drug Related Side Effects and Adverse Reactions	Associate	25451256
Drusen Radial Autosomal Dominant	Associate	11389162, 19850834, 25077532
Dupuytren Contracture	Stimulate	40243889
Encephalocele	Associate	33807164
Endometrial Neoplasms	Associate	32555395
Endometriosis	Associate	35127942
Eye Diseases	Associate	29730901, 33542268
Fetal Growth Retardation	Associate	32056133
Frontotemporal Dementia	Associate	32792518
Glaucoma Open Angle	Associate	22876139, 32476818, 33542268, 34923728
Glioma	Associate	26823870, 27706619, 28380465
Hernia	Associate	31792352
Hernia Abdominal	Associate	31792352
Hernia Inguinal	Associate	37082733, 38348595
Joint Diseases	Associate	31792352
Joint Instability	Associate	38348595
Kyphoscoliosis 1	Associate	38348595
Leiomyoma	Inhibit	26702771
Leukoencephalopathies	Associate	30659137
Lung Neoplasms	Associate	33226065
Lymphatic Metastasis	Associate	21796503, 28085790
Lymphatic Metastasis	Stimulate	24236050, 34204134
Macular Degeneration	Associate	12242346, 14691731, 20981449, 22031286, 23230284, 23365660, 23840815, 25481286, 29097185, 29730901, 33542268
Marfan Syndrome	Associate	35998264, 38348595
Mesothelioma	Associate	33230247, 34116230
Mesothelioma Malignant	Associate	27713145, 33226065, 33230247, 34116230
Mitochondrial Diseases	Associate	34204134
Mollica Pavone Antener syndrome	Associate	32393163
Myopia	Associate	31792352
Neointima	Associate	12242346
Neoplasm Invasiveness	Associate	27095449
Neoplasm Metastasis	Associate	34204134
Neoplasms	Inhibit	21170264, 21796503, 25451256, 33226065
Neoplasms	Associate	23936443, 24236050, 26823870, 27095449, 30008265, 33230247, 34204134
Neoplastic Syndromes Hereditary	Associate	33807164, 38348595
Nerve Degeneration	Associate	12242346
Neuraminidase 1 deficiency	Associate	22031286
Non Muscle Invasive Bladder Neoplasms	Associate	35473807
Non Muscle Invasive Bladder Neoplasms	Stimulate	35618577
Oculocerebrorenal Syndrome	Associate	32393163
Osteoarthritis Hip	Inhibit	39261869
Osteosarcoma	Associate	23144859
Ovarian Neoplasms	Associate	24236050
Overweight	Associate	37082733
Pancreatic Intraductal Neoplasms	Associate	27095449
Pancreatic Neoplasms	Associate	25451256
Parkinson Disease	Inhibit	34768133
Pleural Effusion Malignant	Associate	34116230
Prostatic Neoplasms	Associate	25211630
Prostatic Neoplasms	Inhibit	28085790
Prostatitis	Associate	25211630
Respiratory Tract Diseases	Associate	33226065
Retinal Degeneration	Associate	25389134
Retinal Drusen	Associate	11389162, 19850834, 30541486
Retinal Dystrophies	Associate	18791549, 29730901, 34559486
Retinal Perforations	Associate	37203077
Rhabdoid Tumor Predisposition Syndrome 1	Associate	37726478
Scoliosis	Associate	31792352
Skin Diseases	Associate	38348595
Smooth Muscle Tumor	Inhibit	29689558
Syndactyly type 2	Associate	31792352
Trophoblastic Neoplasms	Associate	32056133
Tumoral Calcinosis Hyperphosphatemic Familial	Associate	29689558
Urethral Neoplasms	Associate	34204134
Urinary Bladder Neoplasms	Associate	25211630, 34936728, 35473807
Uterine Diseases	Associate	35127942
Vascular Calcification	Associate	29689558
Venous Thromboembolism	Associate	37537391
Vision Disorders	Associate	33689237
Vision Low	Associate	18791549
Werner Syndrome	Associate	23936443

EFEMP1 (EGF containing fibulin extracellular matrix protein 1)