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MFGE8 Gene

protein-coding   GIFtS: 70
GCID: GC15M089441

Milk Fat Globule-EGF Factor 8 Protein

(Previous name: sperm associated antigen 10)
(Previous symbol: SPAG10)
  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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Milk Fat Globule-EGF Factor 8 Protein1 2     BA462
SPAG101 2     EDIL12
Sperm Associated Antigen 101 2     HsT198882
Sperm Surface Protein HP471 2     OAcGD3S2
Breast Epithelial Antigen BA462 3     hP472
HMFG2 3     lactadherin2
MFG-E82 3     medin2
MFGM2 3     O-Acetyl Disialoganglioside Synthase2
SED12 3     Milk Fat Globule-EGF Factor 83

External Ids:    HGNC: 70361   Entrez Gene: 42402   Ensembl: ENSG000001405457   OMIM: 6022815   UniProtKB: Q084313   
ORGUL members:         

Export aliases for MFGE8 gene to outside databases

Previous GC identifers: GC15M085781 GC15M082807 GC15M087029 GC15M087172 GC15M087173 GC15M087243 GC15M065554


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MFGE8 Gene:
MFGE8 (milk fat globule-EGF factor 8 protein) is a protein-coding gene. Diseases associated with MFGE8 include simultanagnosia, and anal paget's disease. GO annotations related to this gene include phosphatidylethanolamine binding and integrin binding. An important paralog of this gene is DCBLD1.

UniProtKB/Swiss-Prot: MFGM_HUMAN, Q08431
Function: Plays an important role in the maintenance of intestinal epithelial homeostasis and the promotion of
mucosal healing. Promotes VEGF-dependent neovascularization (By similarity). Contributes to phagocytic removal of
apoptotic cells in many tissues. Specific ligand for the alpha-v/beta-3 and alpha-v/beta-5 receptors. Also binds
to phosphatidylserine-enriched cell surfaces in a receptor-independent manner. Zona pellucida-binding protein
which may play a role in gamete interaction. Binds specifically to rotavirus and inhibits its replication
Function: Medin is the main constituent of aortic medial amyloid

Gene Wiki entry for MFGE8 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:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MFGE8 gene promoter:
         SRF   AML1a   SRF (504 AA)   Pax-2   Pax-2a   Tal-1beta   E47   Pax-2b   Hand1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMFGE8 promoter sequence
   Search Chromatin IP Primers for MFGE8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MFGE8


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

Entrez Gene cytogenetic band: 15q25   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q25

MFGE8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MFGE8 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M089441:  view genomic region     (about GC identifiers)

Start:
89,441,914 bp from pter      End:
89,456,663 bp from pter
Size:
14,750 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MFGM_HUMAN, Q08431 (See protein sequence)
Recommended Name: Lactadherin precursor  
Size: 387 amino acids; 43123 Da
Secondary accessions: B2R6M7 Q53FU9 Q7Z3D2 Q9BTL9
Alternative splicing: 3 isoforms:  Q08431-1   Q08431-2   Q08431-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MFGE8: NX_Q08431

Explore proteomics data for MFGE8 at MOPED

Post-translational modifications: 

  • Medin has a ragged N-terminus with minor species starting at Pro-264 and Gly-2731
  • Ubiquitination2 at Lys156
  • Glycosylation2 at Asn228, Asn238, Asn325, Asn329, Asn350
  • Modification sites at PhosphoSitePlus

  • See MFGE8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001108086.1  NP_005919.2  

    ENSEMBL proteins: 
     ENSP00000452734   ENSP00000268151   ENSP00000268150   ENSP00000456281   ENSP00000444332  
     ENSP00000452926   ENSP00000442386  
    Reactome Protein details: Q08431

    MFGE8 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for MFGE8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR008979 Galactose-bd-like
     IPR013032 EGF-like_CS
     IPR000421 Coagulation_fac_5/8-C_type_dom

    Graphical View of Domain Structure for InterPro Entry Q08431

    ProtoNet protein and cluster: Q08431

    3 Blocks protein domains:
    IPB000421 Coagulation factor 5/8 type C domain (FA58C)
    IPB001438 Type II EGF-like signature
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: MFGM_HUMAN, Q08431
    Domain: The F5/8 type C 2 domain mediates high-affinity binding to phosphatidylserine-containing membranes (By
    similarity)
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 2 F5/8 type C domains


    MFGE8 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:

         UniProtKB/Swiss-Prot Summary: MFGM_HUMAN, Q08431
    Function: Plays an important role in the maintenance of intestinal epithelial homeostasis and the promotion of
    mucosal healing. Promotes VEGF-dependent neovascularization (By similarity). Contributes to phagocytic removal of
    apoptotic cells in many tissues. Specific ligand for the alpha-v/beta-3 and alpha-v/beta-5 receptors. Also binds
    to phosphatidylserine-enriched cell surfaces in a receptor-independent manner. Zona pellucida-binding protein
    which may play a role in gamete interaction. Binds specifically to rotavirus and inhibits its replication
    Function: Medin is the main constituent of aortic medial amyloid

         Genatlas biochemistry entry for MFGE8:
    human milk fat globule protein,46kDa,murine mammary protein MFG-E8 homolog,associated to apoptosis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001786phosphatidylserine binding IEA--
    GO:0005178integrin binding IEA--
    GO:0005515protein binding ----
    GO:0008429phosphatidylethanolamine binding IEA--
         
    MFGE8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MFGE8:
     Increased cell death HMECs cel 

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mfge8):
     cardiovascular system  cellular  endocrine/exocrine gland  hematopoietic system  immune system 
     integument  renal/urinary system  reproductive system  tumorigenesis 

    MFGE8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MFGE8: Mfge8tm1Osa Mfge8tm1Shur Mfge8tm1Mcu

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MFGE8
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MFGE8

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    hsa-mir-423-5p (MIRT038170), hsa-mir-335-5p (MIRT017018)

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    2 qRT-PCR Assays for microRNAs that regulate MFGE8:
    hsa-miR-22 hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmidMFGE8 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFGE8


    (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
    MFGM_HUMAN, Q08431: Membrane; Peripheral membrane protein. Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton2
    cytosol2
    plasma membrane2
    endosome1
    golgi apparatus1
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0009897external side of plasma membrane IEA--
    GO:0019897extrinsic component of plasma membrane IEA--
    GO:0031012colocalizes with extracellular matrix IDA--

    MFGE8 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 MFGE8 About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    Amyloids0.68
    2Selected targets of C EBPbeta
    Selected targets of C EBPbeta
    3Integrins in angiogenesis
    Integrins in angiogenesis
    4Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MFGE8
        Integrins in angiogenesis


    1 Reactome Pathway for MFGE8
        Amyloids



    MFGE8 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MFGE8
    Interactions:

        GeneGlobe Interaction Network for MFGE8

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

    Selected Interacting proteins for MFGE8 (Q084313 ENSP000002681504) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    PDGFRBP096193, ENSP000002617994I2D: score=1 STRING: ENSP00000261799
    RAC1P630003I2D: score=2 
    SLC2A4P146723I2D: score=1 
    WDR6Q9NNW53I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0006910phagocytosis, recognition IEA--
    GO:0006911phagocytosis, engulfment IEA--
    GO:0007155cell adhesion IEA--
    GO:0007338single fertilization IEA--

    MFGE8 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 MFGE8 (MFGM)

    Selected HMDB Compounds for MFGE8 (see all 124)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PS(14:0/14:0)Phosphatidylserine(14:0/14:0) (see all 7)----
    PS(14:0/14:1(9Z))Phosphatidylserine(14:0/14:1n5) (see all 13)----
    PS(14:0/16:0)1-myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine (see all 7)----
    PS(14:0/16:1(9Z))PS(14:0/16:1n7) (see all 13)----
    PS(14:0/18:0)Phosphatidylserine(32:0) (see all 7)----
    PS(14:0/18:1(9Z))PSer(14:0/18:1n9) (see all 13)----
    PS(14:0/18:2(9Z,12Z))PS(14:0/18:2) (see all 13)----
    PS(14:0/18:3(9Z,12Z,15Z))Phosphatidylserine(14:0/18:3) (see all 14)----
    PS(14:0/20:3(8Z,11Z,14Z))PSer(14:0/20:3) (see all 14)----
    PS(14:0/20:4(5Z,8Z,11Z,14Z))PS(34:4) (see all 13)----

    4 Novoseek inferred chemical compound relationships for MFGE8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylserine 75.7 80 18954406 (5), 17123296 (5), 16887494 (4), 18820763 (4) (see all 21)
    phospholipid 45.6 15 12517809 (3), 17905307 (1), 18820763 (1), 10821695 (1)
    whey 44.1 1 17183076 (1)
    lipid 0 3 17420351 (1), 17905307 (1), 10821695 (1)



    MFGE8 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MFGE8 gene (2 alternative transcripts): 
    NM_001114614.1  NM_005928.2  

    Unigene Cluster for MFGE8:

    Milk fat globule-EGF factor 8 protein
    Hs.3745  [show with all ESTs]
    Unigene Representative Sequence: BF345974
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558018 ENST00000268151 ENST00000268150(uc002bng.4 uc002bnh.4 uc010upq.2)
    ENST00000566497 ENST00000560937 ENST00000542878 ENST00000558029 ENST00000560553
    ENST00000559259 ENST00000559997 ENST00000558352(uc010bno.3) ENST00000559770
    ENST00000559143 ENST00000558773 ENST00000557944 ENST00000539437(uc002bnf.4 uc010bnn.3)

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    hsa-miR-22 hsa-miR-766
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      QuantiFast Probe-based Assays in human, mouse, rat MFGE8

    Additional mRNA sequence: 

    AK095908.1 AK222735.1 AK223182.1 AK304627.1 AK310357.1 AK312640.1 AY141974.1 BC003610.2 
    BT006948.1 BX537974.1 S56151.1 U58516.1 

    Selected DOTS entries (see all 30):

    DT.92453118  DT.95331148  DT.95329332  DT.91870799  DT.100845960  DT.100845946  DT.95264516  DT.121080280 
    DT.92453126  DT.100845957  DT.102843217  DT.121080273  DT.100845948  DT.121080300  DT.100038124  DT.100845963 
    DT.121080306  DT.100038123  DT.121080284  DT.95118753  DT.100845955  DT.102843215  DT.121080245  DT.100845954 

    Selected AceView cDNA sequences (see all 675):

    AI368866 CR603150 CD518783 CR609258 CR595108 BX471702 AA436882 BQ929428 
    BM825939 F10041 BM848208 AI799474 CR590960 BP365294 CB152334 CA391569 
    CN480264 BM926943 F01674 BU849147 AA205827 BE042331 AA430111 BQ446436 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MFGE8 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ^ 14a · 14b ^ 15a ·
    SP1:                    -           -     -                                         -           -     -     -     -     -                                       
    SP2:                    -     -     -     -                                         -           -     -     -     -     -                                       
    SP3:                    -     -     -     -                                         -           -     -     -     -     -                       -     -         
    SP4:                    -     -     -     -                                         -           -     -     -     -     -     -                                 
    SP5:                    -     -     -     -     -                                   -           -     -     -     -     -                                       

    ExUns: 15b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for MFGE8

    (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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    MFGE8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTTGGCAGG
    MFGE8 Expression
    About this image


    MFGE8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Epithelial Cells
             Distal Tubule Cells Distal Tubule
     
     Kidney (Urinary System)
             Distal Tubule Cells Distal Tubule
     
     Uterus (Reproductive System)
    MFGE8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MFGE8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.3745

    UniProtKB/Swiss-Prot: MFGM_HUMAN, Q08431
    Tissue specificity: Mammary epithelial cell surfaces and aortic media. Overexpressed in several carcinomas

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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 chordates.

    Orthologs for MFGE8 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mfge81 , 5 milk fat globule-EGF factor 8 protein1, 5 74.56(n)1
    62.95(a)1
      7 (44.90 cM)5
    173041  NM_008594.21  NP_032620.21 
     791337695 
    chicken
    (Gallus gallus)
    Aves MFGE81 milk fat globule-EGF factor 8 protein 67.78(n)
    57.94(a)
      415494  NM_001277111.1  NP_001264040.1 
    lizard
    (Anolis carolinensis)
    Reptilia MFGE86
    milk fat globule-EGF factor 8 protein
    45(a)
    1 ↔ 1
    GL343444.1(43348-100633)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.128622 Xenopus laevis transcribed sequence with weak similarity more 69.59(n)    CF549359.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.289012 Transcribed sequence with weak similarity to protein more 73.78(n)    CK398618.1 


    ENSEMBL Gene Tree for MFGE8 (if available)
    TreeFam Gene Tree for MFGE8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MFGE8 gene
    DCBLD12  EDIL32  DCBLD22  F82  NRP12  RS12  NRP22  F52  
    12 SIMAP similar genes for MFGE8 using alignment to 5 protein entries:     MFGM_HUMAN (see all proteins):
    SPAG10    F8A1    F8    F8C    EDIL3    RS1
    F5    CNTNAP2    DKFZp686J1169    NRP2    DDR2    NRP1

    MFGE8 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 MFGE8 (see all 529)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs121619731,2
    C,F,A--89441642(+) TAAAAA/CTTAGC 2 -- int14Minor allele frequency- C:0.29NA WA CSA 7
    rs49324461,2
    C--89441736(+) GCAATA/GAGCCG 2 -- int10--------
    rs1503955761,2
    --89441898(+) AATAAC/TGAACC 2 -- int10--------
    rs1856836451,2
    --89441899(+) ATAACA/GAACCA 2 -- int10--------
    rs1129376031,2
    F--89441910(+) CACCAC/AGAGTT 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1381523981,2
    C--89441931(+) AGATAA/CATATA 2 -- ut310--------
    rs1155861621,2
    C,F--89442051(+) GACCCG/TCCCCA 2 -- ut311Minor allele frequency- T:0.03WA 118
    rs1155380131,2
    C,F--89442071(+) GTGTCG/ACTGGG 2 -- ut311Minor allele frequency- A:0.04WA 118
    rs1824159851,2
    --89442085(+) CAGGAC/GAAGGG 2 -- ut310--------
    rs85301,2
    C,F,A,H--89442178(-) CCTGCG/ATCGGC 2 -- ut31 ese315Minor allele frequency- A:0.08MN NS EA NA CSA WA 1648

    HapMap Linkage Disequilibrium report for MFGE8 (89441914 - 89456663 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MFGE8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1653CNV Loss18451855
    nsv904478CNV Loss21882294
    esv25206CNV Gain19812545

    Human Gene Mutation Database (HGMD): MFGE8
    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: 602281    OMIM disorders: --

    Selected diseases for MFGE8 (see all 27):    
    About MalaCards
    simultanagnosia    anal paget's disease    hidrocystoma    carpal tunnel syndrome
    chondroid chordoma    chordoma    thoracic aortic aneurysm    acute promyelocytic leukemia
    epididymitis    aortic aneurysm    amyloidosis    choroiditis
    ulcerative colitis    systemic lupus erythematosus    alzheimer's disease    lupus erythematosus
    ischemia    diabetes mellitus    atherosclerosis    retinitis

    4 diseases from the University of Copenhagen DISEASES database for MFGE8:
    Anal Paget's disease     Simultanagnosia     Breast cancer     Hidrocystoma

    MFGE8 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for MFGE8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rotavirus infections 60.5 7 9643686 (3), 15545370 (2), 11787681 (1), 9773837 (1)
    breast carcinoma 19.5 6 9260929 (3), 10821695 (1)
    breast cancer 0 2 17637751 (1), 15565181 (1)
    tumors 0 3 12189239 (1), 17877156 (1)
    alzheimers disease 0 2 17322377 (6), 19208933 (1), 19281242 (1)
    cancer 0 1 17637751 (1)

    Genetic Association Database (GAD): MFGE8
    Human Genome Epidemiology (HuGE) Navigator: MFGE8 (2 documents)

    Export disorders for MFGE8 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 MFGE8 gene, integrated from 10 sources (see all 144):
    (articles sorted by number of sources associating them with MFGE8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SED1/MFG-E8: a bi-motif protein that orchestrates diverse cellular interactions. (PubMed id 19204935)1, 2, 3, 9 Raymond A.... Shur B.D. (J. Cell. Biochem. 2009)
    2. Lactadherin (formerly BA46), a membrane-associated glycoprotein expressed in human milk and breast carcinomas, promotes Arg-Gly-Asp (RGD)-dependent cell adhesion. (PubMed id 9260929)1, 2, 9 Taylor M.R.... Peterson J.A. (DNA Cell Biol. 1997)
    3. Genetic polymorphism in milk fat globule-EGF factor 8 (MFG-E8) is associated with systemic lupus erythematosus in human. (PubMed id 19502262)1, 4, 9 Hu C.Y....Hsu P.N. (Lupus 2009)
    4. Medin: an integral fragment of aortic smooth muscle cell-produced lactadherin forms the most common human amyloid. (PubMed id 10411933)1, 2, 9 Haeggqvist B.... Westermark P. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    5. Mapping of a newly discovered human gene homologous to the apoptosis associated-murine mammary protein, MFG-E8, to chromosome 15q25. (PubMed id 9027496)1, 3, 9 Collins C....Parry G. (Genomics 1997)
    6. Cloning and sequence analysis of human breast epithelial antigen BA46 reveals an RGD cell adhesion sequence presented on an epidermal growth factor-like domain. (PubMed id 8639264)1, 2, 9 Couto J.R.... Peterson J.A. (DNA Cell Biol. 1996)
    7. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Isolation and characterization of full and truncated forms of human breast carcinoma protein BA46 from human milk fat globule membranes. (PubMed id 9535276)1, 2 Giuffrida M.G....Godovac-Zimmermann J. (J. Protein Chem. 1998)
    10. A Mr 46,000 human milk fat globule protein that is highly expressed in human breast tumors contains factor VIII-like domains. (PubMed id 1909932)1, 2 Larocca D....Ceriani R.L. (Cancer Res. 1991)

    (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: 4240 HGNC: 7036 AceView: MFGE8 Ensembl:ENSG00000140545 euGenes: HUgn4240
    ECgene: MFGE8 H-InvDB: MFGE8

    (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 MFGE8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MFGE8 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MFGE8 gene:
    Search GeneIP for patents involving MFGE8

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



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