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

MFGE8 Gene

protein-coding   GIFtS: 65
GCID: GC15M089441

milk fat globule-EGF factor 8 protein

(Previous name: sperm associated antigen 10 )
(Previous symbol: SPAG10)
 Explore 23 diseases affiliated with
MFGE8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MFGE8    

Aliases
for MFGE8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Milk Fat Globule-EGF Factor 8 Protein1 2     Sperm Associated Antigen 101 2
MFG-E81 2 3     Breast Epithelial Antigen BA462 3
SED11 2 3     HMFG2 3
BA461 2     MFGM2 3
EDIL11 2     Lactadherin1
HsT198881 2     Medin1
OAcGD3S1 2     O-Acetyl Disialoganglioside Synthase2
SPAG101 2     Sperm Surface Protein HP472
HP471     Milk Fat Globule-EGF Factor 83

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

Export aliases for MFGE8 gene to outside databases

Previous GC identifers: GC15M085781 GC15M082807 GC15M087029 GC15M087172 GC15M087173 GC15M087243 GC15M065554


Summaries
for MFGE8 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010274.17  
Regulatory elements:
   SABiosciences 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 plasmid: MFGE8 promoter sequence
   Search SABiosciences Chromatin IP Primers for MFGE8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for MFGE8 gene

(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: MFGM_HUMAN, Q08431 (See protein sequence)
Recommended Name: Lactadherin precursor  
Size: 387 amino acids; 43123 Da
Subcellular location: Membrane; Peripheral membrane protein. Secreted
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

Post-translational modifications:

  • Medin has a ragged N-terminus with minor species starting at Pro-264 and Gly-2731
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q08431

    • MFGE8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000452734   ENSP00000268151   ENSP00000268150   ENSP00000456281   ENSP00000444332  
     ENSP00000452926   ENSP00000442386  
    Reactome Protein details: Q08431
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for MFGE8 (MFG-E8)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: MFGE8
    OriGene Protein Over-expression Lysate (see all 2): MFGE8
    OriGene Custom Protein Services for MFGE8 
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    Novus Biologicals MFGE8 Proteins
    Novus Biologicals MFGE8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MFGE8

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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 to plasma membrane IEA--
    GO:0031012colocalizes with extracellular matrix IDA--


    MFGE8 for ontologies           About GeneDecksing



    MFGE8 Antibody Products: 
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    ThermoFisher Antibody for MFGE8

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    Uscn ELISAs and CLIAs for MFGE8

    Protein Domains /
    Families
    for MFGE8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MFGE8 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000742 EG-like_dom
     IPR008979 Galactose-bd-like
     IPR013032 EGF-like_CS
     IPR000421 Coagulation_fac_5/8-C_type_dom
     IPR027060 Lactadherin

    Graphical View of Domain Structure for InterPro Entry Q08431

    ProtoNet protein and cluster: Q08431

    3 Blocks protein families:
    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
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 2 F5/8 type C domains


    Function
    for MFGE8 gene

    (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:

         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

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

    miRNA
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    hsa-miR-22 hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmid: MFGE8 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MFGE8 (see all 7)
    OriGene shRNA RFP: MFGE8
    OriGene siRNA: MFGE8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MFGE8

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MFGE8

    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for MFGE8

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001786phosphatidylserine binding IEA--
    GO:0005178integrin binding IEA--
    GO:0008429phosphatidylethanolamine binding IEA--


    MFGE8 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for MFGE8: Mfge8tm1Osa Mfge8tm1Shur Mfge8tm1Mcu
         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


    Pathways & Interactions
    for MFGE8 gene

    (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
    1Amyloid precursor proteins form ordered fibrils
    		Amyloid precursor proteins form ordered fibrils1.00
    		Amyloids0.43
    2Selected targets of C/EBPbeta
    		Selected targets of C/EBPbeta1.00
    3Integrins in angiogenesis
    		Integrins in angiogenesis1.00
    4Disease
    		Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for MFGE8
        Selected targets of C/EBPbeta


    1 BioSystems Pathway for MFGE8 
        Integrins in angiogenesis

    3        Reactome Pathways for MFGE8
        Amyloids
    Amyloid precursor proteins form ordered fibrils
    Disease



    MFGE8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MFGE8

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

    5/29 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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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



    Drugs & Compounds
    for MFGE8 gene

    (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

    MFGE8 for compounds           About GeneDecksing

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

    Browse Tocris compounds for MFGE8

    10/124 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 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)

    Search CenterWatch for drugs/clinical trials and news about MFGE8 / MFGM 

    Transcripts
    for MFGE8 gene

    (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 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)


    miRNA
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    hsa-miR-22 hsa-miR-766
    SwitchGear 3'UTR luciferase reporter plasmid: MFGE8 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/30 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 

    24/675 AceView cDNA sequences (see all 675):

    AW276464 CB153722 CB306050 BU849147 N39377 AI042092 AA477212 BU726042 
    AU151937 AW513662 AL544578 CB153732 BQ026509 F01674 BM848208 AI952640 
    AA292038 BQ436244 BU737401 AI799474 BE043236 BU181146 BM825939 AA971279 

    GeneLoc Exon Structure

    5/13 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

    Expression
    for MFGE8 gene

    (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

    MFGE8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGTTGGCAGG

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

    MFGE8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyDistal TubuleDistal Tubule CellsKidney
    PancreasDorsal Pancreatic BudImmature Beta Progenitor CellsPancreas
    PancreasVentral Pancreatic BudImmature Beta Progenitor CellsPancreas
    BrainHypothalamusBrain
    BrainMedulla OblongataBrain
    Neural TubeDiencephalic Ventricular ZoneNeural Tube
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MFGE8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MFGE8

    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
    for MFGE8 gene

    (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 MFGE8 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MFGE81 milk fat globule-EGF factor 8 protein 67.78(n)
    57.94(a)    		   415494  XM_413867.3  XP_413867.1 
    lizard
    (Anolis carolinensis)    		 Reptilia MFGE86
    		 --
    		 43(a)
    		 1 ↔ 1
    		 GL343444.1(45155-79690)
    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
    for MFGE8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MFGE8 gene
    DCBLD12  EDIL32  NRP22  DCBLD22  NRP12  RS12  
    13 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
    DKFZp781F1414

    MFGE8 for paralogs           About GeneDecksing



    Genomic Variants
    for MFGE8 gene

    (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

    10/422 NCBI SNPs in MFGE8 are shown (see all 422)     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
    		--89441736(+) GCAATA/GAGCCG 2 -- int10--------
    rs1503955761,2
    		--89441898(+) AATAAC/TGAACC 2 -- int10--------
    rs1856836451,2
    		--89441899(+) ATAACA/GAACCA 2 -- int10--------
    rs1129376031,2
    		--89441910(+) CACCAC/AGAGTT 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1381523981,2
    		--89441931(+) AGATAA/CATATA 2 -- ut310--------
    rs1155861621,2
    		C,F,--89442051(+) GACCCG/TCCCCA 2 -- ut311Minor allele frequency- T:0.03WA 118
    rs1155380131,2
    		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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MFGE8
         1 CNV: 66865
    Human Gene Mutation Database (HGMD): MFGE8

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    Disorders / Diseases
    for MFGE8 gene

    (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.)
    About This Section
    MFGE8 for disorders           About GeneDecksing

    OMIM gene information: 602281    OMIM disorders: --

    20/23 diseases for MFGE8 (see all 23):    About MalaCards
    mammary duct ectasia    carpal tunnel syndrome    chondroid chordoma    thoracic aortic aneurysm
    anal paget's disease    aortic aneurysm    hidrocystoma    systemic lupus erythematosus
    acute promyelocytic leukemia    lupus erythematosus    chordoma    alzheimer's disease
    epididymitis    amyloidosis    breast carcinoma    breast cancer
    thrombosis    ischemia    atherosclerosis    carcinoma

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

    6 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: MFGE8 (2 documents)

    Export disorders for MFGE8 gene to outside databases

    Publications
    for MFGE8 gene

    (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 MFGE8 gene, integrated from 9 sources (see all 141):
    (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. (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. (1997)
    3. 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. (1999)
    4. 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. (1997)
    5. 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. (1996)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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. (1998)
    8. 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. (1991)
    9. Genetic polymorphism in milk fat globule-EGF factor 8 (MFG-E8) is associated with systemic lupus erythematosus in human. (PubMed id 19502262)1, 9 Hu C.Y....Hsu P.N. (2009)
    10. p63(TP63) elicits strong trans-activation of the MFG-E8/lactadherin/BA46 gene through interactions between the TA and DeltaN isoforms. (PubMed id 17637751)1, 9 Okuyama T....Katoh I. (2008)

    External Searches for MFGE8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing MFGE8 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4240 HGNC: 7036 AceView: MFGE8 Ensembl:ENSG00000140545 euGenes: HUgn4240
    ECgene: MFGE8 H-InvDB: MFGE8

    Other Databases showing MFGE8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MFGE8 gene

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

    Intellectual Property
    for MFGE8 gene

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

    GeneCards and IP:
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