EFEMP1 - EGF containing fibulin extracellular matrix protein 1 Gene

Homo sapiens

Also known as DHRD; DRAD; FBNL; MLVT; MTLV; S1-5; FBLN3; FIBL-3

Gene ID: 2202 | Gene type: protein coding

About EFEMP1

Cytogenetic location: 2p16.1 Genomic coordinates (GRCh38): 2:55,865,967-55,923,782 (from NCBI)

This gene has 14 transcripts (splice variants), 225 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 172.1), lung (RPKM 80.6) and 21 other tissues.

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 gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]

EFEMP1 Products(2)

mRNA	Protein	Name
NM_001039348.3	NP_001034437.1	EGF-containing fibulin-like extracellular matrix protein 1 precursor
NM_001039349.3	NP_001034438.1	EGF-containing fibulin-like extracellular matrix protein 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables epidermal growth factor receptor activity	IDA IDA: Inferred from direct assay	19804359	GOA
enables epidermal growth factor receptor binding	IDA IDA: Inferred from direct assay	19804359	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12620389	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in camera-type eye development	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in embryonic eye morphogenesis	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in epidermal growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	19804359	GOA
involved in negative regulation of chondrocyte differentiation	IDA IDA: Inferred from direct assay	20005202	GOA
involved in peptidyl-tyrosine phosphorylation	IDA IDA: Inferred from direct assay	19804359	GOA
involved in post-embryonic eye morphogenesis	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	20005202	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in extracellular matrix	IMP IMP: Inferred from mutant phenotype	35998264	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	20005202	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EFEMP1 Protein Structure

EGF_CA

cEGF

0
100
200
300
400
493 a.a.

Protein Preferred Names

Protein Names

EGF-containing fibulin-like extracellular matrix protein 1

EGF containing fibulin like extracellular matrix protein 1

Recombinant EFEMP1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77920	Fibulin-3 Protein, Human (HEK293, His)	Q12805-1 (Q18-F493)	≥95%

Related Diseases

Diseases

Alias

Doyne Honeycomb Retinal Dystrophy

DHRD	Doyne Honeycomb Degeneration Of Retina
Dhd	Malattia Leventinese
Ml	Mlvt
Dystrophy, Retinal, Doyne Honeycomb

Familial Drusen

Malattia Leventinese	Doyne Honeycomb Retinal Dystrophy
Dhrd	Dominant Drusen
Dominant Radial Drusen

Bladder Diverticulum

Diverticulum Of Bladder	Diverticulum - Bladder
Bladder Diverticula	Vesical Diverticulum
Bladder Sacculation

Inguinal Hernia

Hernia Inguinal	Hernia, Inguinal
Inguinal Hernias	Bubonocele
Indirect Inguinal Hernia	Direct Inguinal Hernia
Oblique Inguinal Hernia	Scrotal Hernia
Ih - [Inguinal Hernia]

Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

Cutis Laxa

Generalized Elastolysis	Loose Skin
Dermatolysis	Dermatomegaly
Cutis Laxa Syndrome

Hypermobile Ehlers-Danlos Syndrome

Heds	Ehlers-Danlos Syndrome Type 3
Ehlers-Danlos Syndrome Hypermobility Type	Hypermobile Eds
Joint Hypermobility	Benign Joint Hypermobility Syndrome
Eds Hypermobility Type	Eds Type Iii
Ehlers-Danlos Syndrome Type Iii	Joint Hypermobility Syndrome
Eds3	Ehlers-Danlos Syndrome, Hypermobility Type
Eds Iii	Eds-Ht

Scoliosis

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Optic Disk Drusen

Optic Disc Drusen	Drusen Of Optic Disc
Optic Nerve Head Drusen	Drusen Optic Disc

Night Blindness

Nyctalopia

Macular Degeneration, Age-Related, 1

Macular Degeneration	Age-Related Macular Degeneration
Macular Degeneration, Age-Related	Age Related Macular Degeneration
Age Related Macular Degeneration 1	ARMD1
Senile Macular Degeneration	Maculopathy, Age-Related, 1
Macular Degeneration, Age-Related, Reduced Risk Of	Age Related Maculopathy 1
Age Related Maculopathies	Age Related Maculopathy
Senile Macular Retinal Degeneration	Macular Degeneration Of Retina
Age-Related Maculopathy	Amd
Armd	Age-Related Maculopathy, Susceptibility To
Maculopathy Age-Related	Macular Degeneration, Age-Related, 1, Susceptibility To
Maculopathy, Age-Related	Macular Degeneration, Age-Related, Type 1
Macular Degeneration, Age-Related, 2

Retinal Drusen

Basal Laminar Drusen

Drusen Of Bruch Membrane	Drusen, Cuticular
Drusen, Early Adult-Onset, Grouped	Cuticular Drusen
Early Adult-Onset Grouped Drusen	BLD
Drusen Cuticular	Drusen Early Adult-Onset Grouped

Wolfram Syndrome

Didmoad Syndrome	Didmoad
Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness	Wfs
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness	Didmoadud
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome	Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Cutis Laxa, Autosomal Recessive, Type Ia

ARCL1A	Cutis Laxa, Autosomal Recessive
Autosomal Recessive Cutis Laxa Type Ia	Cutis Laxa, Autosomal Recessive, Type 1a
Arcl1	Cutis Laxa, Autosomal Recessive, 1a
Cl Type I	Cutis Laxa Autosomal Recessive Type I
Cutis Laxa Autosomal Recessive Type Ia	Cutis Laxa, Autosomal Recessive, Type I

Blepharochalasis

Dermatolysis Palpebrarum

Adiposa Ptosis

Cardiomyopathy, Dilated, 1l

Dilated Cardiomyopathy 1l	CMD1L
Cardiomyopathy, Dilated 1l	Cardiomyopathy, Dilated, Type 1l

Sorsby Fundus Dystrophy

SFD	Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
Sorsby'S Fundus Dystrophy	Macular Dystrophy, Hemorrhagic
Hemorrhagic Macular Dystrophy	Pseudoinflammatory Fundus Dystrophy Of Sorsby
Sorsby'S Pseudoinflammatory Macular Dystrophy	Sorsby Pseudoinflammatory Fundus Dystrophy
Dystrophy, Fundus, Sorsby

Retinal Degeneration

Degeneration Of Retina

Degeneration Of Macula And Posterior Pole

Degeneration Of Macula And Posterior Pole Of Retina	Degeneration Of Macula Or Posterior Pole
Macular Degeneration Nos	Degenerative Disorder Of Macula
Drusen Macular Degeneration	Posterior Pole Macular Degeneration Of Eye
Macular Eye Degeneration	Macular Degeneration Of Retina, Unspecified
Pseudohole Degeneration Of Macula Of Retina

Pleural Cancer

Pleural Neoplasms	Neoplasm Of Pleura
Pleural Tumor	Malignant Tumor Of Pleura
Pleural Cavity Cancer	Primary Malignant Neoplasm Of Parietal Pleura
Primary Malignant Neoplasm Of Pleura	Primary Malignant Neoplasm Of Visceral Pleura

Vitelliform Macular Dystrophy

Best Disease	Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform	Best Macular Dystrophy
Vitelliform Dystrophy

Late-Onset Retinal Degeneration

LORD	Retinal Degeneration, Late-Onset, Autosomal Dominant
Autosomal Dominant Late-Onset Retinal Degeneration	Pigmentary Retinopathy
Retinal Degeneration, Late-Onset	Retinitis Pigmentosa

Stargardt Disease

Stargardt Disease 1	Stargardt Macular Dystrophy
Stargardt Disease-1	Juvenile Onset Macular Degeneration
Stargardt Macular Degeneration	Juvenile Macular Degeneration
Macular Dystrophy With Flecks, Type 1	Stgd
Fundus Flavimaculatus	Stargardt 1
Stargardts Disease

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

Meningioma, Familial

Meningioma	Familial Meningioma
Meningioma, Familial, Susceptibility To	Meningeal Neoplasm
Meningeal Neoplasms	Meningiomas
Meningioma, Nf2-Related, Somatic	Meningioma, Sis-Related
Meningothelial Cell Tumor	Neoplasm Of The Meninges
Primary Meningeal Tumor	Familial Multiple Meningioma
MNGMA	Meningioma, Benign, No Icd-O Subtype
Intracranial Meningioma	Meningothelial Cell Neoplasm
Supratentorial Meningioma	Primary Neoplasm Of Spinal Meninges
Benign Intracranial Meningioma	Benign Meningioma
Meningeal Tumours	Meningeal Sarcoma Of Unspecified Site
Meningothelial Sarcoma Of Unspecified Site

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04185	EFEMP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EFEMP1	RGD	RGD:1308528
Felis catus	EFEMP1	VGNC	VGNC:61743
Canis familiaris	EFEMP1	VGNC	VGNC:40220
Macaca mulatta	EFEMP1	VGNC	VGNC:72165
Bos taurus	EFEMP1	VGNC	VGNC:28348
Mus musculus	EFEMP1	MGD	MGI:1339998
Others	EFEMP1	NCBI