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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  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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)
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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)
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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 plasmidEFEMP1 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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, inGenious Targeting Laboratory, 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.)
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    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 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--
         
    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: Efemp1tm2Lmar Efemp1tm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EFEMP1
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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
    SwitchGear 3'UTR luciferase reporter plasmidEFEMP1 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for EFEMP1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum1
    lysosome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    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--

    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 GeneDecks, 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).
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    SuperPaths for EFEMP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    2ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    3Elastic fibre formation
    Elastic fibre formation0.73
    Molecules associated with elastic fibres0.73
    4Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56
    5Degradation of the extracellular matrix
    Extracellular matrix organization0.34


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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated IDA--
    GO:0007173epidermal growth factor receptor signaling pathway IDA19804359
    GO:0007601visual perception TAS10369267
    GO:0018108peptidyl-tyrosine phosphorylation IDA19804359
    GO:0030198extracellular 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)
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    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 )
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    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 

    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 GeneDecks, 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

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    EFEMP1 expression in normal human tissues (normalized intensities)
    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
     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
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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)
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    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 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 78.44(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 more 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 more 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)
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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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    Selected SNPs for EFEMP1 (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--------
    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--------
    rs1163001421,2
    C,F--55958738(+) TATATG/CCTGTG 2 -- ds50011Minor allele frequency- C:0.03WA 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 IDTypeSubtypePubMed ID
    esv272064CNV Insertion20981092
    nsv2736CNV Insertion18451855
    nsv819764CNV Loss19587683

    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.)
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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 diseases 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)
        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. (Genomics 1996)
    2. 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)
    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. (Mol. Cell. Biol. 1995)
    4. 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)
    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. (Biol. Chem. 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. (amp 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. (J. Biol. Chem. 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. (Hum. Mol. Genet. 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. (Matrix Biol. 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. (Eye (Lond) 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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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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    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/books/NBK1116/?term=EFEMP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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