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EFEMP1 Gene

protein-coding GIFtS: 65
GCID: GC02M056093

EGF Containing Fibulin-Like Extracellular Matrix Protein...

(Previous names: fibrillin-like, EGF-containing fibulin-like extracellular...)
(Previous symbols: DHRD, FBNL)

See EFEMP1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
EGF Containing Fibulin-Like Extracellular Matrix Protein 1¹ ²		Fibulin 3¹
FBNL¹ ² ³ ⁵		DRAD²
DHRD¹ ² ⁵		MLVT²
EGF-Containing Fibulin-Like Extracellular Matrix Protein 1¹ ²		MTLV²
Extracellular Protein S1-5² ³		S1-5²
FBLN3² ³		fibulin-3²
FIBL-3² ³		Fibulin-3³
fibrillin-like¹		Fibrillin-Like Protein³

External Ids:	HGNC: 3218¹	Entrez Gene: 2202²	Ensembl: ENSG00000115380⁷	OMIM: 601548⁵	UniProtKB: Q12805³

Export aliases for EFEMP1 gene to outside databases

Previous GC identifers: GC02M056130 GC02M056279 GC02M056067 GC02M056004 GC02M055828

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EFEMP1 Gene:

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)

GeneCards Summary for EFEMP1 Gene:

EFEMP1 (EGF containing fibulin-like extracellular matrix protein 1) is a protein-coding gene. Diseases associated with EFEMP1 include doyne honeycomb retinal dystrophy, and wolfram syndrome. GO annotations related to this gene include epidermal growth factor receptor binding and calcium ion binding. An important paralog of this gene is LTBP3.

UniProtKB/Swiss-Prot: FBLN3_HUMAN, Q12805

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 olfactory epithelium, it may regulate glial cell migration, differentiation

and the ability of glial cells to support neuronal neurite outgrowth

Gene Wiki entry for EFEMP1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000002.11 NT_022184.16 NC_018913.2

Regulatory elements:

Regulatory transcription factor binding sites in the EFEMP1 gene promoter:
Sox5 POU2F1 POU2F1a Nkx2-5 MIF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EFEMP1 promoter sequence

Search Chromatin IP Primers for EFEMP1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EFEMP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p16 Ensembl cytogenetic band: 2p16.1 HGNC cytogenetic band: 2p16

EFEMP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFEMP1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M056093: view genomic region (about GC identifiers)

Start:	56,093,097 bp from pter	End:	56,151,298 bp from pter
Size:	58,202 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: FBLN3_HUMAN, Q12805 (See protein sequence)

Recommended Name: EGF-containing fibulin-like extracellular matrix protein 1 precursor

Size: 493 amino acids; 54641 Da

Subunit: Interacts with ECM1. Interacts with TIMP3

Miscellaneous: Up-regulated in malignant gliomas. May increase glioma cell adhesiveness and invasive properties

Secondary accessions: A8K3I4 D6W5D2 Q541U7

Alternative splicing: 4 isoforms: Q12805-1 Q12805-2 Q12805-3 Q12805-4

Explore the universe of human proteins at neXtProt for EFEMP1: NX_Q12805

Explore proteomics data for EFEMP1 at MOPED

Post-translational modifications:

Glycosylation² at Asn249

See EFEMP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001034437.1 NP_001034438.1

ENSEMBL proteins:

ENSP00000378058 ENSP00000347596 ENSP00000392055 ENSP00000408195 ENSP00000398345

ENSP00000389319 ENSP00000399480 ENSP00000405686 ENSP00000398387 ENSP00000378057

ENSP00000399145

Reactome Protein details: Q12805

EFEMP1 Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.
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	antibodies-online proteins for EFEMP1 (9 products)
	antibodies-online peptides for EFEMP1

EFEMP1 Antibody Products:

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	antibodies-online antibodies for EFEMP1 (56 products)

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	antibodies-online kits for EFEMP1 (10 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

HGNC Gene Families:

FBLN: Fibulins

Selected InterPro protein domains (see all 7):

IPR001881 EGF-like_Ca-bd_dom

IPR000742 EG-like_dom

IPR009030 Growth_fac_rcpt_N_dom

IPR013032 EGF-like_CS

IPR026823 cEGF

Graphical View of Domain Structure for InterPro Entry Q12805

ProtoNet protein and cluster: Q12805

2 Blocks protein domains:

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB001881 EGF-like calcium-binding

UniProtKB/Swiss-Prot: FBLN3_HUMAN, Q12805

Similarity: Belongs to the fibulin family

Similarity: Contains 6 EGF-like domains

Find genes that share domains with EFEMP1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: FBLN3_HUMAN, Q12805

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 olfactory epithelium, it may regulate glial cell migration, differentiation

and the ability of glial cells to support neuronal neurite outgrowth

Genatlas biochemistry entry for EFEMP1:

EGF-containing fibrillin-like extracellular matrix protein 1,expressed in retina and retina pigment

epithelium,overexpressed in senescent or quiescent fibroblasts

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005006	epidermal growth factor-activated receptor activity	IDA	19804359
GO:0005154	epidermal growth factor receptor binding	IDA	19804359
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	12620389
GO:0008083	growth factor activity	IEA	--

Find genes that share ontologies with EFEMP1 About GenesLikeMe

Phenotypes:
3 GenomeRNAi human phenotypes for EFEMP1:

G0/1 arrest

Increased G1 DNA content

Increased cilium length after

Selected MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Efemp1) (see all 19):

adipose tissue	cardiovascular system	digestive/alimentary	endocrine/exocrine gland	growth/size/body
hematopoietic system	homeostasis/metabolism	immune system	integument	liver/biliary system
mortality/aging	muscle	normal	other	pigmentation

Find genes that share phenotypes with EFEMP1 About GenesLikeMe

Animal Models:
MGI mouse knock-outs for EFEMP1: Efemp1^tm2Lmar Efemp1^tm1Lex

genOway: Develop your customized and physiologically relevant rodent model for EFEMP1

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		Selected qRT-PCR Assays for microRNAs that regulate EFEMP1 (see all 25):
		hsa-miR-520f hsa-miR-16-2* hsa-miR-520d-5p hsa-miR-4263 hsa-let-7a-2* hsa-miR-3133 hsa-miR-183* hsa-miR-9

		SwitchGear 3'UTR luciferase reporter plasmid: EFEMP1 3' UTR sequence

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Gene Editing
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DNA2.0 Custom Protein Engineering Service for EFEMP1

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		GenScript: all cDNA clones in your preferred vector (see all 2): EFEMP1 (NM_001039348)
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		Addgene plasmids for EFEMP1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFEMP1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

FBLN3_HUMAN, Q12805: Secreted, extracellular space (By similarity). Secreted, extracellular space, extracellular

matrix (By similarity). Note=Localizes to the lamina propria underneath the olfactory epithelium (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
extracellular	5
endoplasmic reticulum	1
lysosome	1
plasma membrane	1

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005615	extracellular space	IDA	--
GO:0031012	colocalizes with extracellular matrix	IDA	--

Find genes that share ontologies with EFEMP1 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for EFEMP1 About

See pathways by source

Powered
by

SuperPath

Contained pathways About

Integrin Pathway

FAK1 Signaling	0.67	UPA-UPAR Pathway	0.56
Integrin Pathway	0.67	Inhibition of Angiogenesis by TSP1	0.50
GnRH Signaling	0.56	Transendothelial Migration of Leukocytes	0.38

ERK Signaling

ERK Signaling	0.61	Molecular Mechanisms of Cancer	0.51
Rho Family GTPases	0.61	ILK Signaling	0.49
MAPK Signaling	0.58

Elastic fibre formation

Molecules associated with elastic fibres

0.73

Elastic fibre formation

0.73

Phospholipase-C Pathway

PTEN Pathway

0.56

Phospholipase-C Pathway

0.56

Degradation of the extracellular matrix

Extracellular matrix organization

0.34

Find genes that share SuperPaths with EFEMP1 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for EFEMP1 (see all 13)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	Transendothelial Migration of Leukocytes
	UPA-UPAR Pathway

1 Reactome Pathway for EFEMP1

Molecules associated with elastic fibres

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for EFEMP1
Interactions:

Search GeneGlobe Interaction Network for EFEMP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

Selected Interacting proteins for EFEMP1 (Q12805^{1, 2, 3} ENSP00000347596⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GFI1B	Q5VTD9²^,³, ENSP00000344782⁴	MINT-2858913 MINT-2858894 I2D: score=2 STRING: ENSP00000344782
RERE	Q9P2R6²^,³, ENSP00000338629⁴	MINT-2858932 I2D: score=2 STRING: ENSP00000338629
PDIA3	P30101²^,³	MINT-4301358 I2D: score=1
ATN1	P54259¹^,²^,³, ENSP00000349076⁴	EBI-536772,EBI-945980 MINT-2858856 MINT-2858875 MINT-2858837 I2D: score=2 STRING: ENSP00000349076
ARAF	P10398¹^,³, ENSP00000366244⁴	EBI-536772,EBI-365961 I2D: score=3 STRING: ENSP00000366244

About this table

Gene Ontology (GO): Selected biological process terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-templated	IDA	--
GO:0007173	epidermal growth factor receptor signaling pathway	IDA	19804359
GO:0007601	visual perception	TAS	10369267
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	19804359
GO:0030198	extracellular matrix organization	TAS	--

Find genes that share ontologies with EFEMP1 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for EFEMP1 (FBLN3)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for EFEMP1 gene (4 alternative transcripts):

NM_001039348.2 NM_001039349.2 NM_004105.3 XM_005264205.2

Unigene Cluster for EFEMP1:

EGF containing fibulin-like extracellular matrix protein 1

Hs.76224 [show with all ESTs]

Unigene Representative Sequence: NM_001039348

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000394555(uc002rzi.3 uc002rzj.3 uc010ypc.2) ENST00000355426

ENST00000438672 ENST00000452161 ENST00000439193 ENST00000440439 ENST00000429909

ENST00000452337 ENST00000421664 ENST00000480016 ENST00000424207 ENST00000497698

ENST00000394554 ENST00000424836

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		Selected qRT-PCR Assays for microRNAs that regulate EFEMP1 (see all 25):
		hsa-miR-520f hsa-miR-16-2* hsa-miR-520d-5p hsa-miR-4263 hsa-let-7a-2* hsa-miR-3133 hsa-miR-183* hsa-miR-9

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		QuantiFast Probe-based Assays in human, mouse, rat EFEMP1

Additional mRNA sequence:

AB209212.1 AK092854.1 AK290599.1 AK293058.1 AK301402.1 AK301531.1 AK312639.1 BC014410.1

BC098561.1 U03877.1

19 DOTS entries:

DT.100874194 DT.100657277 DT.92449464 DT.100875765 DT.121004495 DT.92390611 DT.92449471 DT.97864288

DT.95243541 DT.92449460 DT.100657276 DT.95357702 DT.121634828 DT.92449456 DT.97776609 DT.121004549

DT.92449465 DT.95357673 DT.75120024

Selected AceView cDNA sequences (see all 447):

W80792 BC014410 AU137862 CF126101 CN485246 AA187593 AA912645 AU156375

BM712993 AA668622 CA413469 BM996362 BG333399 AA603631 AU279764 CA396190

BG900665 BM717157 BU620548 AI969943 AI183768 BG542672 BF724724 BQ940371

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for EFEMP1 (see all 9) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	^	5	^	6a	·	6b	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14
SP1:									-				-		-				-
SP2:									-				-		-				-								-
SP3:									-		-		-		-				-
SP4:									-				-						-
SP5:													-		-				-

ECgene alternative splicing isoforms for EFEMP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EFEMP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CAAGGGTAAG

About this image

EFEMP1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 23) fully expand


Kidney (Urinary System) fully expand to see all 3 entries
Metanephric Mesenchyme Cells Metanephric Mesenchyme
Renal Collecting Duct System

Eye (Sensory Organs) fully expand to see all 2 entries
GABAergic Amacrine Cells Inner Nuclear Layer
Retina

Brain (Nervous System) fully expand to see all 2 entries
Cerebral Cortex

Adipose (Muscoskeletal System)
Visceral White Adipose

NULL (Uncategorized)
CD31, CD144 positive cells

EFEMP1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

EFEMP1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.76224

UniProtKB/Swiss-Prot: FBLN3_HUMAN, Q12805

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

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFEMP1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for EFEMP1 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Efemp1^{1 , 5}	epidermal growth factor-containing fibulin-like extracellular matrix protein 1 less^{1, 5}	88.84(n)¹ 94.52(a)¹		11 (16.32 cM)⁵ 216616¹ NM_146015.2¹ NP_666127.2¹ 28853204⁵
chicken (Gallus gallus)	Aves	EFEMP1¹	EGF containing fibulin-like extracellular matrix protein 1 less	78.44(n) 85.78(a)		428543 XM_426097.4 XP_426097.3
lizard (Anolis carolinensis)	Reptilia	EFEMP1⁶	EGF containing fibulin-like extracellular matrix p...	72(a)	1 ↔ 1	1(256143109-256210322)
tropical clawed frog (Xenopus tropicalis)	Amphibia	efemp1¹	EGF containing fibulin-like extracellular matrix protein 1 less	69.43(n) 70.15(a)		100495975 XM_002936826.2 XP_002936872.1
zebrafish (Danio rerio)	Actinopterygii	LOC100332567¹	EGF-containing fibulin-like extracellular matrix protein 1-like less	62.85(n) 64.71(a)		100332567 XM_002664071.2 XP_002664117.2
fruit fly (Drosophila melanogaster)	Insecta	CG31999⁶	--	17(a)	1 → many	4(235635-246582)
worm (Caenorhabditis elegans)	Secernentea	fbl-1⁶	Protein FBL-1, isoform a (fbl-1) mRNA, complete cd...	18(a)	1 → many	IV(9540808-9546250) WBGene00001403

ENSEMBL Gene Tree for EFEMP1 (if available)
TreeFam Gene Tree for EFEMP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for EFEMP1 gene

LTBP3² HMCN1² SCUBE3² FBLN5² MEGF6² LTBP4² SCUBE1² EFEMP2²

LTBP2² HMCN2² LTBP1² FBLN2² FBLN1² SCUBE2²

Selected SIMAP similar genes for EFEMP1 using alignment to 10 protein entries: FBLN3_HUMAN (see all proteins) (see all similar genes):

EFEMP2 MBP1 FBLN5 LTBP3 HMCN1 LTBP2

NOTCH2 FBN3 FBLN7 NELL2 NOTCH3 PROS1

SCUBE2 LTBP1 FBN2 FBLN2 FBN1 MATN2

Find genes that share paralogs with EFEMP1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_009513⁴		Doyne honeycomb retinal dystrophy (DHRD)⁴	--	see VAR_009513	2	R W	mis⁴		0	--	--	--	--
rs55673402^1,2	C	--	55837358(+)	`TTTGG-/ATATATA`	2	--	int¹		0	--	--	--	--
rs55723403^1,2	C	--	55837359(+)	`ATATA-/AT/TA AATTA`	2	--	int¹		0	--	--	--	--
rs367668229^1,2	C	--	55837567(+)	`CATAT-/ATACAC ACACA`	2	--	int¹		0	--	--	--	--
rs72472512^1,2	C	--	55837569(+)	`ATATA-/ACCACAC`	2	--	int¹		0	--	--	--	--
rs71713705^1,2	C	--	55850568(+)	`TAAAC-/TTTTTTT`	2	--	int¹		0	--	--	--	--
rs1346787^1,2	C,F,O,A,H	--	55958451(-)	`ACATGA/GTTGCT`	2	--	ds500¹		39		EA NA NS WA CSA	3530
rs145526021^1,2	C	--	55958541(+)	`GTCAGA/CTCTGT`	2	--	ds500¹		0	--	--	--	--
rs148849270^1,2		--	55958578(+)	`TTAACC/GTTTAA`	2	--	ds500¹		0	--	--	--	--
rs116300142^1,2	C,F	--	55958738(+)	`TATATG/CCTGTG`	2	--	ds500¹		1		WA	118

HapMap Linkage Disequilibrium report for EFEMP1 (56093097 - 56151298 bp)

Structural Variations
Database of Genomic Variants (DGV) 3 variations for EFEMP1: About this table

Variant ID	Type	Subtype	PubMed ID
esv272064	CNV	Insertion	20981092
nsv2736	CNV	Insertion	18451855
nsv819764	CNV	Loss	19587683

Human Gene Mutation Database (HGMD): EFEMP1
Locus Specific Mutation Databases (LSDB): EFEMP1

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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OMIM gene information: 601548
OMIM disorders: 126600
UniProtKB/Swiss-Prot: FBLN3_HUMAN, Q12805

Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]: Autosomal dominant disease characterized by

yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. Note=The disease is

caused by mutations affecting the gene represented in this entry

3 diseases for EFEMP1:
About MalaCards

doyne honeycomb retinal dystrophy wolfram syndrome age related macular degeneration

2 inferred disease relationships from the University of Copenhagen DISEASES database for EFEMP1:

Fundus dystrophy Age related macular degeneration

Find genes that share disorders with EFEMP1 About GenesLikeMe

6 Novoseek inferred disease relationships for EFEMP1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
doyne honeycomb retinal dystrophy	98.2	9	12427233 (3), 10369267 (1), 11262647 (1), 10982184 (1) (see all 6)
drusen	86.6	15	11262647 (3), 15218514 (3), 12427233 (3), 16799055 (1) (see all 7)
werner syndrome	57.3	3	8812496 (1), 10982184 (1)
maculopathy	52.5	2	16799055 (2)
retinopathy	20	1	16799055 (1)
tumors	0.501	31	19208748 (5), 19887559 (4), 19898900 (2), 19804359 (2) (see all 5)

Genetic Association Database (GAD): EFEMP1
Human Genome Epidemiology (HuGE) Navigator: EFEMP1 (14 documents)

Export disorders for EFEMP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for EFEMP1 gene, integrated from 10 sources (see all 96):
(articles sorted by number of sources associating them with EFEMP1)

Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin. (PubMed id 8812496)^{1, 2, 3, 9} Ikegawa S.... Nakamura Y. (Genomics 1996)
EFEMP1 is not associated with sporadic early onset drusen. (PubMed id 11262647)^{1, 2, 4, 9} Sauer C.G.... Weber B.H. (Ophthalmic Genet. 2001)
An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor- like repeat family stimulates DNA synthesis. (PubMed id 7799918)^{1, 2, 3} Lecka-Czernik B.... Goldstein S. (Mol. Cell. Biol. 1995)
Fibulin-3 is uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion. (PubMed id 19887559)^{1, 2, 9} Hu B.... Viapiano M.S. (Mol. Cancer Res. 2009)
EFEMP1 binds the EGF receptor and activates MAPK and Akt pathways in pancreatic carcinoma cells. (PubMed id 19804359)^{1, 2, 9} Camaj P.... Bruns C.J. (Biol. Chem. 2009)
Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration. (PubMed id 12427233)^{1, 4, 9} Guymer R.H....Baird P.N. (amp 2002)
Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations. (PubMed id 15123717)^{1, 2, 9} Klenotic P.A.... Anand-Apte B. (J. Biol. Chem. 2004)
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. (PubMed id 17666404)^{1, 2, 9} Fu L.... Pierce E.A. (Hum. Mol. Genet. 2007)
Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. (PubMed id 10601734)^{1, 2, 9} Giltay R.... Kostka G. (Matrix Biol. 1999)
Analysis of the EFEMP1 gene in individuals and families with early onset drusen. (PubMed id 15218514)^{1, 4, 9} Narendran N....Baird P.N. (Eye (Lond) 2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2202	HGNC: 3218	AceView: EFEMP1	Ensembl:ENSG00000115380	euGenes: HUgn2202
ECgene: EFEMP1	H-InvDB: EFEMP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for EFEMP1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for EFEMP1	Genetics and Cytogenetics in Oncology and Haematology
Mutations of the EFEMP1 gene	http://www.retina-international.org/files/sci-news/efempmut.htm
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EFEMP1[genesymbol]

Intellectual Property for EFEMP1 gene
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Patent Information for EFEMP1 gene:
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GeneCards and IP:
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