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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EFEMP1 Gene

protein-coding GIFtS: 66
GCID: GC02M056093

EGF Containing Fibulin-Like Extracellular Matrix Protein...

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

35 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, 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 malignant glioma, and among its related super-pathways are FAK1 Signaling and MAPK Signaling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NT_022184.15 NC_018913.2

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for EFEMP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Subcellular location: Secreted, extracellular space (By similarity). Secreted, extracellular space, extracellular

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

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:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q12805

EFEMP1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

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
Human Recombinant Protein Products for EFEMP1:

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	Browse Proteins at Cloud-Clone Corp.

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): 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	--

EFEMP1 for ontologies About GeneDecksing

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Assay Products for EFEMP1:

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

HGNC Gene Families:

FBLN: Fibulins

5/7 InterPro protein domains (see all 7):

IPR001881 EGF-like_Ca-bd

IPR000742 EG-like_dom

IPR013032 EGF-like_CS

IPR026823 cEGF

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

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

EFEMP1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
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 (GO ID links to tree view): 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	--

EFEMP1 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for EFEMP1:

G0/1 arrest

Increased G1 DNA content

Increased cilium length after

15/19 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
hematopoietic system	homeostasis/metabolism	immune system	integument	liver/biliary system
mortality/aging	muscle	normal	other	pigmentation

EFEMP1 for phenotypes About GeneDecksing

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

inGenious Targeting Laboratory - Custom generated mouse model solutions for EFEMP1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EFEMP1

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

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFEMP1

(Pathways according to EMD Millipore, 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 GeneDecks, Interaction Networks according to SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for EFEMP1 About

See pathways by source

SuperPath

Contained pathways About

Integrin Pathway

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

Rho Family GTPases

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

Elastic fibre formation

Elastic fibre formation

0.84

Molecules associated with elastic fibres

0.84

PTEN Pathway

PTEN Pathway

0.56

Phospholipase-C Pathway

0.56

Collagen biosynthesis and modifying enzymes

Extracellular matrix organization

0.39

Pathways by source See SuperPaths
Show all pathways

5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EFEMP1 (see all 13)

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

3 Reactome Pathways for EFEMP1

	Molecules associated with elastic fibres
	Extracellular matrix organization
	Elastic fibre formation

EFEMP1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for EFEMP1

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

5/21 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): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	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	--

EFEMP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EFEMP1 (FBLN3)

Search CenterWatch for drugs/clinical trials and news about 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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for EFEMP1 gene (3 alternative transcripts):

NM_001039348.2 NM_001039349.2 NM_004105.3

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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		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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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

24/447 AceView cDNA sequences (see all 447):

CA413469 BQ000084 AA082157 BU683304 AL603118 BM717157 AI753283 AI335681

BF724724 AI985522 BQ447077 AU137862 AI183768 AW026913 CA428571 BX417870

AI081143 AI361055 BG542672 AA321130 CB051307 H61077 AI420034 BG540015

GeneLoc Exon Structure

5/9 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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EFEMP1 expression in normal human tissues (normalized intensities) EFEMP1 embryonic expression: see
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

5/7 selected tissues (see all 7) fully expand


Umbilical Cord (Extraembryonic Tissues) fully expand to see all 2 entries
Human umbilical vein endothelial cells (HUVEC)
umbilical cord

Endothelium (Cardiovascular System) fully expand to see all 2 entries
Human umbilical vein endothelial cells (HUVEC)
CD31, CD144 positive cells (Two-step protocol for endothelial differentiation by...

Adipose (Muscoskeletal System) fully expand to see all 2 entries
Visceral White Adipocytes Visceral White Adipose
Visceral White Adipose

Bone (Muscoskeletal System) fully expand to see all 2 entries
Zeugopod Growth Plate
Mesenchymal progenitor cells (Generation of bone tissue constructs from pluripotent...

Kidney (Urinary System) fully expand to see all 2 entries
Metanephric Mesenchyme Cells Metanephric Mesenchyme
Renal Collecting Duct System

See EFEMP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EFEMP1

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

SABiosciences Custom PCR Arrays for EFEMP1

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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 chordates.

Orthologs for EFEMP1 gene from 4/10 species (see all 10) 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	78.52(n) 85.78(a)		428543 XM_426097.3 XP_426097.3
lizard (Anolis carolinensis)	Reptilia	EFEMP1⁶	EGF containing fibulin-like extracellular matrix p...	72(a)	1 ↔ 1	1(256143109-256210322)
zebrafish (Danio rerio)	Actinopterygii	LOC100332567¹	EGF-containing fibulin-like extracellular matrix protein 1-like less	62.73(n) 64.6(a)		100332567 XM_002664071.1 XP_002664117.1

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)
About This Section

Paralogs for EFEMP1 gene

LTBP3² HMCN1² FBN2² MEGF6² FBN3² FBLN5² LTBP4² LTBP1²

LTBP2² FBLN2² FBN1² SCUBE3² EFEMP2² SCUBE1² FBLN7² HMCN2²

FBLN1² SCUBE2²

18/19 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

EFEMP1 for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

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	--	--	--	--
VAR_009512⁴		--	--	see VAR_009512	2	I F	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	--	--	--	--

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

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

EFEMP1 for disorders           About GeneDecksing

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

20/35 diseases for EFEMP1 (see all 35): About MalaCards

doyne honeycomb retinal dystrophy malignant glioma wolfram syndrome retinal drusen

autosomal dominant disease werner syndrome crohn's disease macular degeneration

fundus dystrophy retinal disease age related macular degeneration retinitis

sporadic breast cancer non-small cell lung carcinoma choroiditis lateral sclerosis

amyotrophic lateral sclerosis blindness osteoarthritis liver disease

2 diseases from the University of Copenhagen DISEASES database for EFEMP1:

Fundus dystrophy Age related macular degeneration

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)
About This Section

PubMed articles for EFEMP1 gene, integrated from 9 sources (see all 92):
(articles sorted by number of sources associating them with EFEMP1)

Utopia: connect your pdf to the dynamic
world of online information

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. (1996)
EFEMP1 is not associated with sporadic early onset drusen. (PubMed id 11262647)^{1, 2, 4, 9} Sauer C.G.... Weber B.H. (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. (1995)
Fibulin-3 is uniquely upregulated in malignant glioma s and promotes tumor cell motility and invasion. (PubMed id 19887559)^{1, 2, 9} Hu B....Viapiano M.S. (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. (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. (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. (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. (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. (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. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2202	HGNC: 3218	AceView: EFEMP1	Ensembl:ENSG00000115380	euGenes: HUgn2202
ECgene: EFEMP1	H-InvDB: EFEMP1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

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/sites/GeneTests/lab/gene/EFEMP1

Intellectual Property for EFEMP1 gene
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Patent Information for EFEMP1 gene:
Search GeneIP for patents involving EFEMP1

GeneCards and IP:
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