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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EFEMP2 Gene

protein-coding   GIFtS: 63
GCID: GC11M065633

EGF containing fibulin-like extracellular matrix protein...

(Previous name: EGF-containing fibulin-like extracellular matrix protein...)
 Explore 15 diseases affiliated with
EFEMP2 via our new
 Human Malady Compendium 
Biological research products
for EFEMP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
EGF Containing Fibulin-Like Extracellular Matrix Protein 21 2     MBP12
FBLN41 2 3 5     Fibulin 42
UPH11 2 5     Fibulin-43
EGF-Containing Fibulin-Like Extracellular Matrix Protein 21 2     Mutant P53 Binding Protein 12
FIBL-42 3     Fibulin-43
ARCL1B2     Protein UPH13

External Ids:    HGNC: 32191   Entrez Gene: 300082   Ensembl: ENSG000001726387   OMIM: 6046335   UniProtKB: O959673   
ORGUL members:         
NONCODE:n410551    

Export aliases for EFEMP2 gene to outside databases

Previous GC identifers: GC11M068168 GC11M067315 GC11M065884 GC11M065409 GC11M065390 GC11M061960


(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 EFEMP2:
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)

Gene Wiki entry for EFEMP2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EFEMP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Secreted
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95967

  • EFEMP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_058634.4  
    ENSEMBL proteins: 
     ENSP00000431305   ENSP00000435295   ENSP00000436536   ENSP00000436521   ENSP00000434151  
     ENSP00000309953   ENSP00000432191   ENSP00000436526   ENSP00000435823   ENSP00000435419  
     ENSP00000435963   ENSP00000437238  
    Reactome Protein details: O95967
    Human Recombinant Protein Products: 
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    Novus Biologicals EFEMP2 Protein
    Novus Biologicals EFEMP2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EFEMP2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane TAS10601734
    GO:0016020membrane IEA--


    EFEMP2 for ontologies           About GeneDecksing



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

    EFEMP2 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR001491 Thrombomodulin
     IPR001881 EGF-like_Ca-bd
     IPR000742 EG-like_dom
     IPR013032 EGF-like_CS
     IPR026823 cEGF

    Graphical View of Domain Structure for InterPro Entry O95967

    ProtoNet protein and cluster: O95967

    2 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:
         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

    miRNA
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    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
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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 IPI19570982


    EFEMP2 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrin Pathway
    Integrin Pathway1.00
    UPA-UPAR Pathway0.51
    FAK1 Signaling0.67
    Transendothelial Migration of Leukocytes0.38
    GnRH Signaling0.56
    Inhibition of Angiogenesis by TSP10.37
    2Rho Family GTPases
    Rho Family GTPases1.00
    MAPK Signaling0.51
    ERK Signaling0.61
    ILK Signaling0.45
    Molecular Mechanisms of Cancer0.51
    3Elastic fibre formation
    Elastic fibre formation1.00
    Molecules associated with elastic fibres0.84
    4PTEN Pathway
    PTEN Pathway1.00
    Phospholipase-C Pathway0.56
    5Collagen formation
    Extracellular matrix organization0.54

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EFEMP2 (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    3        Reactome Pathways for EFEMP2
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation



    EFEMP2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EFEMP2

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

    5/64 Interacting proteins for EFEMP2 (O959671, 2, 3 ENSP000003099534) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    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
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2872623 MINT-2872642 I2D: score=2 STRING: ENSP00000344782
    REREQ9P2R62, 3, ENSP000003386294MINT-2872661 MINT-2872680 I2D: score=2 STRING: ENSP00000338629
    APEX2Q9UBZ42, 3, ENSP000003641264MINT-67353 I2D: score=4 STRING: ENSP00000364126
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007596blood coagulation IEA--


    EFEMP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, 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 EFEMP2
    Search CenterWatch for drugs/clinical trials and news about EFEMP2 / FBLN4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EFEMP2 gene: 
    NM_016938.4  

    Unigene Cluster for EFEMP2:

    EGF containing fibulin-like extracellular matrix protein 2
    Hs.731454  [show with all ESTs]
    Unigene Representative Sequence: AB209121
    18/20 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


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    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*
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB030655.1 AB209121.1 AF093119.1 AF124486.1 AJ132819.2 AK075453.1 AK292079.1 AK315181.1 
    AY358899.1 BC010456.1 BC109225.1 CR541934.1 NR_037718.1 

    20 DOTS entries:

    DT.100808616  DT.453509  DT.95185436  DT.91764438  DT.95334444  DT.100808628  DT.100802942  DT.100039510 
    DT.40189820  DT.100035545  DT.100039512  DT.120690256  DT.100735419  DT.120690083  DT.100061044  DT.99964054 
    DT.120690049  DT.120690120  DT.120690259  DT.95072621 

    24/2886 AceView cDNA sequences (see all 2886):

    CA306290 CA433624 BI258761 AL545946 CR601037 CR624160 BC012265 BM783265 
    BM846066 BU730497 AA477258 BM973725 BM455139 BM552944 N75449 BU631334 
    BM556564 CB127486 BM988917 BM480297 AI085632 CA310112 BM920982 AA252249 

    GeneLoc Exon Structure

    5/6 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™, 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

    EFEMP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCTACCGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See EFEMP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EFEMP2

    SOURCE GeneReport for Unigene cluster: Hs.731454
        SABiosciences Custom PCR Arrays for EFEMP2
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for EFEMP2 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia EFEMP26
    --
    72(a)
    1 ↔ 1
    AAWZ02036837(713-14085)
    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 frac6
    faulty attraction
    7(a)
    1 → many
    3L(7555710-7562599)
    worm
    (Caenorhabditis elegans)
    Secernentea mup-46
    mua-36
    Transmembrane cell adhesion receptor mua-3
    4(a)
    2(a)
    possible ortholog
    possible ortholog
    III(7479616-7489010)
    III(10160599-10183440)


    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)
    About This Section
    Paralogs for EFEMP2 gene
    FBN12  LTBP32  SCUBE32  FBN32  FBLN52  FBN22  LTBP42  EFEMP12  
    SCUBE12  LTBP22  LTBP12  FBLN22  FBLN12  SCUBE22  
    14 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    FBLN7    SCUBE2
    EMR2    FBN1

    EFEMP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/189 NCBI SNPs in EFEMP2 are shown (see all 189    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs6013141,2
    C,F,O,A,H,non-pathogenic65636053(+) GTTGAC/TGCAGC 3 I V nc-transcript-variantmis142Minor allele frequency- T:0.12EA NA MN NS WA CSA EU 9033
    rs618938671,2
    Cnon-pathogenic68844756(+) ACTCCC/TGGGGG 3 Q R nc-transcript-variantmis11Minor allele frequency- T:0.50NA 2
    rs1194891011,2
    Cpathogenic68840424(-) TCAACA/GAGTGT 3 K E nc-transcript-variantmis10--------
    rs1194891021,2
    Cpathogenic68843257(-) CCACAC/TGCCTC 3 R C mis10--------
    rs775400331,2
    C,F,--61960503(+) AGTTTG/CAGGCA 2 -- nc-transcript-variantut311Minor allele frequency- C:0.04WA 118
    rs118204361,2
    C,F,H,--61961280(+) CTCTTC/GTCACC 2 -- int11Minor allele frequency- G:0.09WA 118
    rs22344711,2
    C,H--61961994(-) TCATCC/TATTGT 3 S syn15Minor allele frequency- T:0.00NS EA NA 4964
    rs22344691,2
    C,H--61962302(-) GCCCTA/GCATCC 3 Y C nc-transcript-variantmis1 ese36Minor allele frequency- G:0.00NS EA NA 416
    rs22344681,2
    H--61962715(-) CATTCA/TGTCTA 2 -- int14Minor allele frequency- T:0.00NS EA 414
    rs798517051,2
    C,F,--61962819(+) NNNNCT/CCTGCC 2 -- int11Minor allele frequency- C:0.14WA 118

    HapMap Linkage Disequilibrium report for EFEMP2 (65633912 - 65641063 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for EFEMP2
         1 CNV: 3855
    Human Gene Mutation Database (HGMD): EFEMP2

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

    EFEMP2 for disorders           About GeneDecksing

    OMIM gene information: 604633   
    OMIM disorders: 219100  
    UniProtKB/Swiss-Prot: FBLN4_HUMAN, O95967
  • Defects in EFEMP2 are the cause of cutis laxa, autosomal recessive, type 1B (ARCL1B) [MIM:614437]. A
  • connective tissue disorder characterized by 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

    15 diseases for EFEMP2:    About MalaCards
    cutis laxa    doyne honeycomb retinal dystrophy    contractural arachnodactyly    rectal prolapse
    dengue hemorrhagic fever    hemorrhagic fever    fundus dystrophy    aortic aneurysm
    macular degeneration    retinitis    osteoarthritis    pharyngitis
    prostate cancer    ataxia    prostatitis

    1 disease from the University of Copenhagen DISEASES database for EFEMP2:
    Cutis laxa
    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)
    About This Section

    PubMed articles for EFEMP2 gene, integrated from 9 sources (see all 35):
    (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. (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. (2000)
    3. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. (PubMed id 16685658)1, 2, 9 Hucthagowder V....Urban Z. (2006)
    4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)1, 2 Taylor T.D....Sakaki Y. (2006)
    5. 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. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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. (2004)
    8. 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. (2003)
    9. Fibulin-4 regulates expression of the tropoelastin ge ne and consequent elastic-fibre formation by human fibroblasts. (PubMed id 19627254)1, 9 Chen Q....Dicorleto P.E. (2009)
    10. Fibulin-4 is a target of autoimmunity predominantly in patients with osteoarthritis. (PubMed id 16493080)1, 9 Xiang Y....Kato T. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 30008 HGNC: 3219 AceView: CFL1andEFEMP2 Ensembl:ENSG00000172638 euGenes: HUgn30008
    ECgene: EFEMP2 H-InvDB: EFEMP2

    (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 EFEMP2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EFEMP2

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