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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)
  See related diseases
at  

(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 plasmidEFEMP1 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 

    EFEMP1 Protein Expression
    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 Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IDA--
    GO:0031012colocalizes with extracellular matrix IDA--

    EFEMP1 for ontologies           About GeneDecksing



    EFEMP1 Antibody Products: 
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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, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, 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 IDQualified GO termEvidencePubMed IDs
    GO:0005006epidermal growth factor-activated receptor activity IDA19804359
    GO:0005154epidermal growth factor receptor binding IDA19804359
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI12620389
    GO:0008083growth 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:
         MGI mouse knock-outs for EFEMP1: Efemp1tm2Lmar Efemp1tm1Lex

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

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EFEMP1 
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    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate EFEMP1 (see all 25):
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    SwitchGear 3'UTR luciferase reporter plasmidEFEMP1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    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

    SuperPathContained pathways About
    1Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    2Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    3Elastic fibre formation
    Elastic fibre formation0.84
    Molecules associated with elastic fibres0.84
    4PTEN Pathway
    PTEN Pathway0.56
    Phospholipase-C Pathway0.56
    5Collagen biosynthesis and modifying enzymes
    Extracellular matrix organization0.39

    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 CentralTM 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 (Q128051, 2, 3 ENSP000003475964) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2858913 MINT-2858894 I2D: score=2 STRING: ENSP00000344782
    REREQ9P2R62, 3, ENSP000003386294MINT-2858932 I2D: score=2 STRING: ENSP00000338629
    PDIA3P301012, 3MINT-4301358 I2D: score=1 
    ATN1P542591, 2, 3, ENSP000003490764EBI-536772,EBI-945980 MINT-2858856 MINT-2858875 MINT-2858837 I2D: score=2 STRING: ENSP00000349076
    ARAFP103981, 3, ENSP000003662444EBI-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 IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent IDA--
    GO:0007173epidermal growth factor receptor signaling pathway IDA19804359
    GO:0007601visual perception TAS10369267
    GO:0018108peptidyl-tyrosine phosphorylation IDA19804359
    GO:0030198extracellular 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, Ligands according to IUPHAR, and Drugs according to DrugBank, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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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    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
    EFEMP1 Expression
    About this image


    EFEMP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 14 entries
             Peripheral blood endothelial colony-forming cells
             CD31, CD144 positive cells ( Two-step protocol for endothelial differentiation by...
             Human Ovarian Microvascular Endothelial Cells (HOMEC)   
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Coronary Artery Smooth Muscle Cells (CASMC)   
             Cardiac Myocytes   
     
     Fibroblast
             Detroit 551
             Human Ovarian Fibroblasts (HOF)   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Wharton's jelly-derived stem cells
             Human Umbilical Vein Endothelial Cells (HUVEC) (BioTime)   
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Human Mesenchymal Stem Cell-hepatic (HMSC-he)   

    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

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    (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 Efemp11 , 5 epidermal growth factor-containing fibulin-like extracellular more1, 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 more 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 more 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

    10/1206 SNPs in EFEMP1 are shown (see all 1206)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0095134
    Doyne honeycomb retinal dystrophy (DHRD)4--see VAR_0095132 R W mis40--------
    VAR_0095124
    ----see VAR_0095122 I F mis40--------
    rs556734021,2
    C--55837358(+) TTTGG-/ATATATA 2 -- int10--------
    rs557234031,2
    C--55837359(+) ATATA-/AT/TA 
            
    AATTA
    2 -- int10--------
    rs3676682291,2
    C--55837567(+) CATAT-/ATACAC
            
    ACACA
    2 -- int10--------
    rs724725121,2
    C--55837569(+) ATATA-/ACCACAC 2 -- int10--------
    rs717137051,2
    C--55850568(+) TAAAC-/TTTTTTT 2 -- int10--------
    rs13467871,2
    C,F,O,A,H--55958451(-) ACATGA/GTTGCT 2 -- ds500139Minor allele frequency- N:0.00EA NA NS WA CSA 3530
    rs1455260211,2
    C--55958541(+) GTCAGA/CTCTGT 2 -- ds50010--------
    rs1488492701,2
    --55958578(+) TTAACC/GTTTAA 2 -- ds50010--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EFEMP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv272064CNV Insertion20981092
    nsv2736CNV Insertion18451855
    nsv819764CNV Loss19587683


    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
    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

    EFEMP1 for disorders           About GeneDecksing

    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

    1. 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)
    2. EFEMP1 is not associated with sporadic early onset drusen. (PubMed id 11262647)1, 2, 4, 9 Sauer C.G.... Weber B.H. (2001)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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
     ANDOR
    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
    NameDescription
    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 genehttp://www.retina-international.org/files/sci-news/efempmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EFEMP1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EFEMP1 gene:
    Search GeneIP for patents involving EFEMP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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