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EFEMP2 Gene

protein-coding   GIFtS: 60
GCID: GC11M065633

EGF Containing Fibulin-Like Extracellular Matrix Protein...

(Previous name: EGF-containing fibulin-like extracellular matrix protein...)
  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)
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Aliases
EGF Containing Fibulin-Like Extracellular Matrix Protein 21 2     UPH12 5
FBLN42 3 5     MBP12
EGF-Containing Fibulin-Like Extracellular Matrix Protein 21 2     fibulin-42
Fibulin 41 2     Mutant P53 Binding Protein 12
FIBL-42 3     Fibulin-43
ARCL1B2 5     Protein UPH13

External Ids:    HGNC: 32191   Entrez Gene: 300082   Ensembl: ENSG000001726387   OMIM: 6046335   UniProtKB: O959673   

Export aliases for EFEMP2 gene to outside databases

Previous GC identifers: GC11M068168 GC11M067315 GC11M065884 GC11M065409 GC11M065390 GC11M061960


(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 EFEMP2 Gene:
A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth
factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of
complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2
domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective
tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively
spliced transcript variants have been identified for this gene. (provided by RefSeq, Jan 2011)

GeneCards Summary for EFEMP2 Gene:
EFEMP2 (EGF containing fibulin-like extracellular matrix protein 2) is a protein-coding gene. Diseases associated with EFEMP2 include efemp2-related cutis laxa, and lethal arteriopathy syndrome due to fbln4 deficiency. GO annotations related to this gene include extracellular matrix structural constituent and calcium ion binding. An important paralog of this gene is LTBP3.

Gene Wiki entry for EFEMP2 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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Regulatory elements:
   Regulatory transcription factor binding sites in the EFEMP2 gene promoter:
         NF-1   p53   ATF-2   IRF-1   Roaz   Arnt   PPAR-alpha   FAC1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEFEMP2 promoter sequence
   Search Chromatin IP Primers for EFEMP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EFEMP2


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

Entrez Gene cytogenetic band: 11q13.1   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

EFEMP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFEMP2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M065633:  view genomic region     (about GC identifiers)

Start:
65,633,912 bp from pter      End:
65,641,063 bp from pter
Size:
7,152 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FBLN4_HUMAN, O95967 (See protein sequence)
Recommended Name: EGF-containing fibulin-like extracellular matrix protein 2 precursor  
Size: 443 amino acids; 49405 Da
1 PDB 3D structure from and Proteopedia for EFEMP2:
2KL7 (3D)    
Secondary accessions: A8K7R4 B3KM31 B3KQT1 O75967

Explore the universe of human proteins at neXtProt for EFEMP2: NX_O95967

Explore proteomics data for EFEMP2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn198, Asn394
  • Modification sites at PhosphoSitePlus

  • See EFEMP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_058634.4  
    ENSEMBL proteins: 
     ENSP00000431305   ENSP00000435295   ENSP00000436536   ENSP00000436521   ENSP00000434151  
     ENSP00000309953   ENSP00000432191   ENSP00000436526   ENSP00000435823   ENSP00000435419  
     ENSP00000435963   ENSP00000437238  
    Reactome Protein details: O95967

    EFEMP2 Human Recombinant Protein Products:

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    Novus Biologicals EFEMP2 Protein
    Novus Biologicals EFEMP2 Lysates
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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

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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 9):
     IPR001491 Thrombomodulin
     IPR001881 EGF-like_Ca-bd_dom
     IPR000742 EG-like_dom
     IPR009030 Growth_fac_rcpt_N_dom
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry O95967

    ProtoNet protein and cluster: O95967

    2 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: FBLN4_HUMAN, O95967
    Similarity: Belongs to the fibulin family
    Similarity: Contains 6 EGF-like domains


    EFEMP2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for EFEMP2:
    EGF-containing fibrillin-like extracellular matrix protein 2,expressed in both fetal and adult retina in fetal
    brain,kidney and heart,EFEMP1 paralog

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity IEA--
    GO:0005201extracellular matrix structural constituent TAS10601734
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI16189514
         
    EFEMP2 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Efemp2):
     cardiovascular system  integument  mortality/aging  muscle  normal 
     respiratory system 

    EFEMP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EFEMP2: Efemp2tm1.2Hiya Efemp2tm1.2Tynk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EFEMP2
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    miRNA
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    miRTarBase miRNAs that target EFEMP2:
    hsa-mir-346 (MIRT000076), hsa-mir-128-3p (MIRT021872)

    Block miRNA regulation of human, mouse, rat EFEMP2 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate EFEMP2:
    hsa-miR-137 hsa-miR-1224-3p hsa-miR-3157-5p hsa-miR-4287 hsa-miR-211 hsa-miR-1304 hsa-miR-204 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidEFEMP2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for EFEMP2
    Predesigned siRNA for gene silencing in human, mouse, rat EFEMP2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: EFEMP2 (NM_016938)
    Sino Biological Human cDNA Clone for EFEMP2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFEMP2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFEMP2


    (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
    FBLN4_HUMAN, O95967: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    cytoskeleton1
    cytosol1
    lysosome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005604basement membrane TAS10601734
    GO:0016020membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19199708

    EFEMP2 for ontologies           About GeneDecksing


    (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 EFEMP2 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for EFEMP2 (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway


    1 Reactome Pathway for EFEMP2
        Molecules associated with elastic fibres



    EFEMP2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EFEMP2
    Interactions:

        Search GeneGlobe Interaction Network for EFEMP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EFEMP2 (O959671, 2, 3 ENSP000003099534) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATN1P542591, 2, 3, ENSP000003490764EBI-743414,EBI-945980 MINT-2872547 MINT-2872528 MINT-2872566 I2D: score=2 STRING: ENSP00000349076
    RHOXF2Q9BQY41, 2, 3, ENSP000003604414EBI-743414,EBI-372094 MINT-68138 I2D: score=5 STRING: ENSP00000360441
    BAG6P463792, 3, ENSP000003651314MINT-66735 I2D: score=4 STRING: ENSP00000365131
    ENSG00000096155P463792, 3MINT-66735 I2D: score=4 
    ENSG00000227761P463792, 3MINT-66735 I2D: score=4 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007596blood coagulation IEA--
    GO:0030198extracellular matrix organization TAS--

    EFEMP2 for ontologies           About GeneDecksing



    (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 EFEMP2 (FBLN4)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EFEMP2 gene: 
    NM_016938.4  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000527277 ENST00000531972 ENST00000526628 ENST00000526911 ENST00000531645
    ENST00000528176 ENST00000307998(uc001ofz.3 uc001ofy.4) ENST00000524408
    ENST00000532648 ENST00000528409 ENST00000530806 ENST00000525392 ENST00000532084
    ENST00000531005 ENST00000527969 ENST00000533347 ENST00000526624 ENST00000527378

    miRNA
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    Block miRNA regulation of human, mouse, rat EFEMP2 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate EFEMP2:
    hsa-miR-137 hsa-miR-1224-3p hsa-miR-3157-5p hsa-miR-4287 hsa-miR-211 hsa-miR-1304 hsa-miR-204 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidEFEMP2 3' UTR sequence
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EFEMP2
      QuantiTect SYBR Green Assays in human, mouse, rat EFEMP2
      QuantiFast Probe-based Assays in human, mouse, rat EFEMP2

    Selected AceView cDNA sequences (see all 2886):

    BM848327 BM556565 BM921181 AA993630 AA846007 AI952263 BP354377 BM557326 
    AA335463 BM510840 CR621841 BI857378 BQ671791 BM423722 BM465794 BU857690 
    CB161480 BI918372 BQ058430 CB107042 AI198921 AI754302 BU535681 CB850508 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EFEMP2 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for EFEMP2

    (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)
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    EFEMP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTACCGGG
    EFEMP2 Expression
    About this image


    EFEMP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Hair (Integumentary System)
             Outer Root Sheath Cells Outer Root Sheath
     
     Ovary (Reproductive System)
     
     Adipose (Muscoskeletal System)
     
     Tonsil (Hematopoietic System)
    EFEMP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EFEMP2 Protein Expression
        Custom PCR Arrays for EFEMP2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFEMP2

    (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 EFEMP2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Efemp21 , 5 epidermal growth factor-containing fibulin-like extracellular more1, 5 88.34(n)1
    94.81(a)1
      19 (4.33 cM)5
    588591  NM_001164352.11  NP_001157824.11 
     54739735 
    lizard
    (Anolis carolinensis)
    Reptilia EFEMP26
    EGF containing fibulin-like extracellular matrix p...
    72(a)
    1 ↔ 1
    AAWZ02036837(52-21968)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.163722 Transcribed sequence with moderate similarity to protein more 74.55(n)    BX722983.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb22f102 Transcribed sequence with moderate similarity to protein more 75.44(n)    57039315 
    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...
    20(a)
    1 → many
    IV(9540808-9546250) WBGene00001403


    ENSEMBL Gene Tree for EFEMP2 (if available)
    TreeFam Gene Tree for EFEMP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EFEMP2 gene
    LTBP32  HMCN12  SCUBE32  FBLN52  MEGF62  EFEMP12  LTBP42  SCUBE12  
    LTBP22  LTBP12  HMCN22  FBLN22  FBLN12  SCUBE22  
    10 SIMAP similar genes for EFEMP2 using alignment to 12 protein entries:     FBLN4_HUMAN (see all proteins):
    MBP1    LDLR    EFEMP1    FBLN5    FBLN2    PROS1
    NPNT    DKFZp586A1519    FBLN1    DKFZp667O055

    EFEMP2 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), 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 EFEMP2 (see all 259)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0670694
    Cutis laxa, autosomal recessive, 1B (ARCL1B)4--see VAR_0670692 C Y mis40--------
    VAR_0670704
    Cutis laxa, autosomal recessive, 1B (ARCL1B)4--see VAR_0670702 R C mis40--------
    VAR_0270194
    Cutis laxa, autosomal recessive, 1B (ARCL1B)4--see VAR_0270192 E K mis40--------
    rs618938671,2
    Cnon-pathogenic165555244(+) ACTCCC/TGGGGG 3 Q R nc-transcript-variantmis11Minor allele frequency- T:0.50NA 2
    rs6013141,2,,4
    C,F,O,A,Hnon-pathogenic165556802(+) GTTGAC/TGCAGC 3 I V nc-transcript-variantmis142Minor allele frequency- T:0.12EA NA MN NS WA CSA EU 9033
    rs1194891021,2
    Cpathogenic165556742(-) CCACAC/TGCCTC 3 R C nc-transcript-variantmis10--------
    rs1194891011,2
    Cpathogenic165559575(-) TCAACA/GAGTGT 3 K E nc-transcript-variantmis10--------
    rs340172161,2
    C--61968906(+) AATTC-/TTTTTT 2 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1853039541,2
    C--65554187(+) CCCTCA/GCTGCC 2 -- ds50010--------
    rs752149271,2
    C--65554202(+) TTCCTG/ACAGGA 2 -- ds50011Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for EFEMP2 (65633912 - 65641063 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for EFEMP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv999644CNV Deletion20482838
    nsv897766CNV Loss21882294
    nsv897764CNV Loss21882294
    nsv897763CNV Loss21882294
    nsv832191CNV Loss17160897
    dgv1185n71CNV Loss21882294
    nsv897736CNV Loss21882294
    dgv393e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): EFEMP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EFEMP2
    DNA2.0 Custom Variant and Variant Library Synthesis for EFEMP2

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

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    OMIM gene information: 604633   
    OMIM disorders: 614437  
    UniProtKB/Swiss-Prot: FBLN4_HUMAN, O95967
  • Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437]: A connective tissue disorder characterized by
    loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance.
    Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive
    cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include
    emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures,
    arachnodactyly, and fragility of blood vessels. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20 diseases for EFEMP2:    
    About MalaCards
    efemp2-related cutis laxa    lethal arteriopathy syndrome due to fbln4 deficiency    cutis laxa, autosomal recessive, type ia    rectal prolapse
    doyne honeycomb retinal dystrophy    cutis laxa    fundus dystrophy    osteogenesis imperfecta
    dengue hemorrhagic fever    hemorrhagic fever    malignant pleural mesothelioma    aortic aneurysm
    osteoarthritis    retinitis    ataxia    alzheimer's disease
    prostate cancer    multiple myeloma    prostatitis    myeloma

    1 disease from the University of Copenhagen DISEASES database for EFEMP2:
    Cutis laxa

    EFEMP2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): EFEMP2
    Human Genome Epidemiology (HuGE) Navigator: EFEMP2 (2 documents)

    Export disorders for EFEMP2 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 EFEMP2 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with EFEMP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. (PubMed id 10601734)1, 2, 3, 9 Giltay R.... Kostka G. (Matrix Biol. 1999)
    2. Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. (PubMed id 10982184)1, 2, 3, 9 Katsanis N.... Lupski J.R. (Hum. Genet. 2000)
    3. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. (PubMed id 16685658)1, 2, 9 Hucthagowder V....Urban Z. (Am. J. Hum. Genet. 2006)
    4. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PubMed id 20588308)1, 4 Silva L.K....Teixeira M.G. (Eur. J. Hum. Genet. 2010)
    5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)1, 2 Taylor T.D....Sakaki Y. (Nature 2006)
    6. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    10. Fibulin-4 regulates expression of the tropoelastin gene and consequent elastic-fibre formation by human fibroblasts. (PubMed id 19627254)1, 9 Chen Q....Dicorleto P.E. (Biochem. J. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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

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    Entrez Gene: 30008 HGNC: 3219 AceView: CFL1andEFEMP2 Ensembl:ENSG00000172638 euGenes: HUgn30008
    ECgene: EFEMP2 H-InvDB: EFEMP2

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for EFEMP2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EFEMP2[genesymbol]

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

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    Patent Information for EFEMP2 gene:
    Search GeneIP for patents involving EFEMP2

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



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