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

MFAP2 Gene

protein-coding   GIFtS: 61
GCID: GC01M017300

Microfibrillar-Associated Protein 2

  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
Microfibrillar-Associated Protein 21 2
MAGP2 3 5
MAGP12 3 5
Microfibril-Associated Glycoprotein 12 3
MAGP-12 3
MFAP-23

External Ids:    HGNC: 70331   Entrez Gene: 42372   Ensembl: ENSG000001171227   OMIM: 1567905   UniProtKB: P550013   

Export aliases for MFAP2 gene to outside databases

Previous GC identifers: GC01M017038 GC01M016341 GC01M016682 GC01M017046 GC01M017173 GC01M015545


(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 MFAP2 Gene:
Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for
involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two
different isoforms have been found for this gene. (provided by RefSeq, Sep 2008)

GeneCards Summary for MFAP2 Gene: 
MFAP2 (microfibrillar-associated protein 2) is a protein-coding gene. Diseases associated with MFAP2 include buphthalmos, and connective tissue disease, and among its related super-pathways are Molecules associated with elastic fibres and Collagen formation. GO annotations related to this gene include fibronectin binding and fibrinogen binding. An important paralog of this gene is MFAP5.

UniProtKB/Swiss-Prot: MFAP2_HUMAN, P55001
Function: Component of the elastin-associated microfibrils

Gene Wiki entry for MFAP2 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_000001.10  NC_018912.2  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MFAP2 gene promoter:
         AREB6   p53   Brachyury   Lmo2   ATF6   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MFAP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MFAP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFAP2


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

Entrez Gene cytogenetic band: 1p36.1-p35   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.1-p35

MFAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MFAP2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M017300:  view genomic region     (about GC identifiers)

Start:
17,300,997 bp from pter      End:
17,308,081 bp from pter
Size:
7,085 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: MFAP2_HUMAN, P55001 (See protein sequence)
Recommended Name: Microfibrillar-associated protein 2 precursor  
Size: 183 amino acids; 20826 Da
Subunit: Forms a ternary complex with BGN and ELN (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix
Secondary accessions: Q53X60 Q5JXY0
Alternative splicing: 3 isoforms:  P55001-1   P55001-2   P55001-3   

Explore the universe of human proteins at neXtProt for MFAP2: NX_P55001

Explore proteomics data for MFAP2 at MOPED 

Post-translational modifications:

  • UniProtKB: Forms intermolecular disulfide bonds either with other MAGP-1 molecules or with other components of the
    microfibrils. May form transglutaminase cross-links
  • UniProtKB: O-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55001

  • MFAP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MFAP2 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001128719.1  NP_001128720.1  NP_002394.1  NP_059453.1  

    ENSEMBL proteins: 
     ENSP00000364684   ENSP00000364685   ENSP00000417029  
    Reactome Protein details: P55001
    Human Recombinant Protein Products for MFAP2: 
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    Novus Biologicals MFAP2 Proteins
    Novus Biologicals MFAP2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for MFAP2
    Cloud-Clone Corp. Proteins for MFAP2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001527microfibril IEA--
    GO:0005576extracellular region TAS--

    MFAP2 for ontologies           About GeneDecksing



    MFAP2 Antibody Products: 
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    Assay Products for MFAP2: 
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    Cloud-Clone Corp. ELISAs for MFAP2 
    Cloud-Clone Corp. CLIAs for MFAP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR008673 MAGP
     IPR003582 ShK_toxin

    Graphical View of Domain Structure for InterPro Entry P55001

    ProtoNet protein and cluster: P55001

    2 Blocks protein domains:
    IPB003582 Metridin-like ShK toxin
    IPB008673 Microfibril-associated glycoprotein


    UniProtKB/Swiss-Prot: MFAP2_HUMAN, P55001
    Similarity: Belongs to the MFAP family
    Similarity: Contains 1 ShKT domain


    MFAP2 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: MFAP2_HUMAN, P55001
    Function: Component of the elastin-associated microfibrils

         Genatlas biochemistry entry for MFAP2:
    microfibrillar associated glycoprotein 2,component of elastin microfibrils in the extracellular matrix

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001968fibronectin binding IEA--
    GO:0005515protein binding ----
    GO:0070051fibrinogen binding IEA--
         
    MFAP2 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mfap2):
     hematopoietic system  homeostasis/metabolism 

    MFAP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mfap2tm1Mech for MFAP2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MFAP2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MFAP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MFAP2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MFAP2 

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate MFAP2:
    hsa-miR-548d-3p hsa-miR-548am hsa-miR-548x hsa-miR-1207-3p hsa-miR-29c hsa-miR-29a hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidMFAP2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MFAP2

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): MFAP2 (NM_017459)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFAP2


    (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 MFAP2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Elastic fibre formation
    Molecules associated with elastic fibres0.84
    Elastic fibre formation0.84
    2Collagen biosynthesis and modifying enzymes
    Extracellular matrix organization0.39
    3Notch signaling pathway
    Notch signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MFAP2
        Notch signaling pathway

    3        Reactome Pathways for MFAP2
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation



    MFAP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MFAP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for MFAP2 (P550013 ENSP000003646854) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BGNP218103, ENSP000003273364I2D: score=2 STRING: ENSP00000327336
    FBN2P355563, ENSP000002624644I2D: score=1 STRING: ENSP00000262464
    JAG1P785043, ENSP000002549584I2D: score=1 STRING: ENSP00000254958
    JAG2Q9Y2193, ENSP000003281694I2D: score=1 STRING: ENSP00000328169
    COL4A3Q019553, ENSP000003798234I2D: score=3 STRING: ENSP00000379823
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030198extracellular matrix organization TAS--
    GO:0030220platelet formation IEA--

    MFAP2 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

    MFAP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MFAP2

    4 Novoseek inferred chemical compound relationships for MFAP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyaluronic acid 29.8 1 14578398 (1)
    proline 19.8 2 8557636 (1), 11723825 (1)
    gold 11.7 1 8985131 (1)
    tyrosine 0 3 11284693 (2), 7961786 (1)

    Search CenterWatch for drugs/clinical trials and news about MFAP2

    (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 MFAP2 gene (4 alternative transcripts): 
    NM_001135247.1  NM_001135248.1  NM_002403.3  NM_017459.2  

    Unigene Cluster for MFAP2:

    Microfibrillar-associated protein 2
    Hs.389137  [show with all ESTs]
    Unigene Representative Sequence: BC028033
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375534 ENST00000490075 ENST00000375535(uc001azw.3 uc001azx.3 uc001azy.3 uc010ocl.2)
    ENST00000476788 ENST00000478684 ENST00000492598 ENST00000438542
    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate MFAP2:
    hsa-miR-548d-3p hsa-miR-548am hsa-miR-548x hsa-miR-1207-3p hsa-miR-29c hsa-miR-29a hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidMFAP2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MFAP2
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    OriGene clones in human, mouse for MFAP2 (see all 23)
    OriGene ORF clones in mouse, rat for MFAP2
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MFAP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFAP2
    Sirion Biotech Customized lentivirus for stable overexpression of MFAP2 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MFAP2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MFAP2

    Additional mRNA sequence: 

    AK222751.1 BC015039.1 BC028033.1 CR407678.1 U19718.1 

    10 DOTS entries:

    DT.448848  DT.97820931  DT.97795411  DT.91748612  DT.100714835  DT.100810700  DT.95162772  DT.121394746 
    DT.91748607  DT.95261000 

    24/192 AceView cDNA sequences (see all 192):

    AA317293 AA341820 AI990853 AI280922 N86551 AI262436 BU849854 CR597163 
    BF435957 BM673729 AI741278 AI149517 CR590231 AL553496 AL712483 BG720193 
    CR619947 AU280150 BM712871 AA359221 BC028033 AA329559 CR619798 BG120734 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for MFAP2 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for MFAP2

    (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

    MFAP2 expression in normal human tissues (normalized intensities)      MFAP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCACCTTT
    MFAP2 Expression
    About this image


    MFAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             Septum   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, pre-menopause ; cells in endometrial stroma   
             Uterus Corpus   
     
     Stomach (Gastrointestinal Tract)    fully expand to see all 2 entries
             stomach, upper ; glandular cells   
     
     Heart (Cardiovascular System)
             Cardiac Myocytes   
     
     Eye (Sensory Organs)
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium

    See MFAP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MFAP2

    SOURCE GeneReport for Unigene cluster: Hs.389137
        SABiosciences Custom PCR Arrays for MFAP2
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MFAP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFAP2

    (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 MFAP2 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mfap21 , 5 microfibrillar-associated protein 21, 5 87.04(n)1
    91.67(a)1
      4 (73.31 cM)5
    171501  NM_001161799.11  NP_001155271.11 
     1410104185 
    chicken
    (Gallus gallus)
    Aves LOC1008585551 microfibrillar-associated protein 2-like 73.48(n)
    75.69(a)
      100858555  XM_003642512.1  XP_003642560.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia mfap2-prov2 microfibrillar-associated protein 2 78.03(n)    BC041238.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mfap21 microfibrillar-associated protein 2 66.03(n)
    67.31(a)
      556677  NM_001039357.1  NP_001034446.1 


    ENSEMBL Gene Tree for MFAP2 (if available)
    TreeFam Gene Tree for MFAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MFAP2 gene
    MFAP52  
    2 SIMAP similar genes for MFAP2 using alignment to 1 protein entry:     MFAP2_HUMAN:
    MFAP5    MAGP2

    MFAP2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MFAP2
    PGOHUM00000245290


    (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

    10/207 SNPs in MFAP2 are shown (see all 207)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs120371101,2
    C--15545668(-) GGGGTA/TGGGGG 7 -- int10--------
    rs602841301,2
    C--17307265(+) CTCCT-/G/GG  
            
    GGGGG
    4 -- int1 us2k10--------
    rs557383281,2
    C--17506719(-) TTGGGA/GAGTTG 4 -- ds50010--------
    rs563781381,2
    C--17506831(-) GTGAGC/TACATT 4 -- ds50010--------
    rs9102141,2
    C,F,O,A--17507107(-) AGATCA/GAGTCA 4 -- ds500110Minor allele frequency- C:0.04NA EA 357
    rs558354421,2
    C--17507161(+) CCATGC/TCCACG 4 -- ut310--------
    rs10512251,2
    C,F--17507340(-) GGCACA/GATGGG 4 -- ut31 ese34Minor allele frequency- G:0.45MN NA 190
    rs22359331,2
    C,F,O--17507563(-) GTGGCA/GGCCTC 8 A syn1 ese34Minor allele frequency- G:0.45EA NA CSA 1506
    rs617384871,2
    F--17507563(+) GAGGCC/TGCCAC 8 A syn11Minor allele frequency- T:0.28NS 76
    rs1998070691,2
    C--17507598(+) CATCAC/TGCCAC 8 M V mis10--------

    HapMap Linkage Disequilibrium report for MFAP2 (17300997 - 17308081 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for MFAP2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508947CNV Insertion20534489
    dgv185n71CNV Loss21882294
    nsv834269CNV Loss17160897
    dgv184n71CNV Loss21882294
    nsv871590CNV Loss21882294
    nsv834280CNV Loss17160897
    nsv428421CNV Gain+Loss18775914
    dgv30e1CNV Complex17122850
    dgv40e1CNV Complex17122850
    dgv29e1CNV Complex17122850

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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: 156790    OMIM disorders: --

    5 diseases for MFAP2:    About MalaCards
    buphthalmos    connective tissue disease    costello syndrome    polyneuropathy
    glaucoma


    MFAP2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MFAP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    connective tissue diseases 35.1 2 7759096 (1)

    Genetic Association Database (GAD): MFAP2
    Human Genome Epidemiology (HuGE) Navigator: MFAP2 (1 document)

    Export disorders for MFAP2 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 MFAP2 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with MFAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170. (PubMed id 7759096)1, 2, 3, 9 Faraco J.... Francke U. (1995)
    2. Genome-wide association and large-scale follow up iden tifies 16 new loci influencing lung function. (PubMed id 21946350)1, 4 Soler Artigas M....Tobin M.D. (2011)
    3. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (2010)
    4. Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. (PubMed id 19182256)1, 4 Krumbiegel M....Reis A. (2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. 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)
    7. Microfibril-associated glycoprotein-1 (MAGP-1) binds to the pepsin-resistant domain of the alpha3(VI) chain of type VI collagen. (PubMed id 9278443)1, 9 Finnis M.L. and Gibson M.A. (1997)
    8. Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1. (PubMed id 11481325)1, 9 Jensen S.A....Weiss A.S. (2001)
    9. Expression of microfibril-associated glycoprotein-1 (MAGP-1) in human epidermal keratinocytes. (PubMed id 10664011)1, 9 Fujimoto N....Ishibashi A. (2000)
    10. Microfibril-associated glycoprotein-1 binding to tropoelastin: multiple binding sites and the role of divalent cations. (PubMed id 15233806)1, 9 Clarke A.W. and Weiss A.S. (2004)

    (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: 4237 HGNC: 7033 AceView: MFAP2 Ensembl:ENSG00000117122 euGenes: HUgn4237
    ECgene: MFAP2 H-InvDB: MFAP2

    (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 MFAP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MFAP2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MFAP2 gene:
    Search GeneIP for patents involving MFAP2

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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