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Aliases for MFGE8 Gene

Aliases for MFGE8 Gene

  • Milk Fat Globule-EGF Factor 8 Protein 2 3 5
  • Breast Epithelial Antigen BA46 3 4
  • Sperm Associated Antigen 10 2 3
  • Sperm Surface Protein HP47 2 3
  • MFG-E8 3 4
  • HMFG 3 4
  • MFGM 3 4
  • SED1 3 4
  • O-Acetyl Disialoganglioside Synthase 3
  • Milk Fat Globule-EGF Factor 8 4
  • HsT19888 3
  • OAcGD3S 3
  • SPAG10 3
  • EDIL1 3
  • Medin 3
  • BA46 3
  • HP47 3

External Ids for MFGE8 Gene

Previous HGNC Symbols for MFGE8 Gene

  • SPAG10

Previous GeneCards Identifiers for MFGE8 Gene

  • GC15M085781
  • GC15M082807
  • GC15M087029
  • GC15M087172
  • GC15M087173
  • GC15M087243
  • GC15M089441
  • GC15M065554

Summaries for MFGE8 Gene

Entrez Gene Summary for MFGE8 Gene

  • This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

GeneCards Summary for MFGE8 Gene

MFGE8 (Milk Fat Globule-EGF Factor 8 Protein) is a Protein Coding gene. Diseases associated with MFGE8 include opisthorchiasis and anal paget's disease. Among its related pathways are Transport to the Golgi and subsequent modification and Integrins in angiogenesis. GO annotations related to this gene include integrin binding and phosphatidylethanolamine binding. An important paralog of this gene is NRP2.

UniProtKB/Swiss-Prot for MFGE8 Gene

  • 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.

  • Medin is the main constituent of aortic medial amyloid.

Gene Wiki entry for MFGE8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFGE8 Gene

Genomics for MFGE8 Gene

Regulatory Elements for MFGE8 Gene

Promoters for MFGE8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MFGE8 on UCSC Golden Path with GeneCards custom track

Genomic Location for MFGE8 Gene

Chromosome:
15
Start:
88,898,683 bp from pter
End:
88,913,454 bp from pter
Size:
14,772 bases
Orientation:
Minus strand

Genomic View for MFGE8 Gene

Genes around MFGE8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFGE8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFGE8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFGE8 Gene

Proteins for MFGE8 Gene

  • Protein details for MFGE8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08431-MFGM_HUMAN
    Recommended name:
    Lactadherin
    Protein Accession:
    Q08431
    Secondary Accessions:
    • B2R6M7
    • Q53FU9
    • Q7Z3D2
    • Q9BTL9

    Protein attributes for MFGE8 Gene

    Size:
    387 amino acids
    Molecular mass:
    43123 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MFGE8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFGE8 Gene

Proteomics data for MFGE8 Gene at MOPED

Post-translational modifications for MFGE8 Gene

  • Medin has a ragged N-terminus with minor species starting at Pro-264 and Gly-273.
  • Ubiquitination at Lys 156
  • Glycosylation at Asn 228, Asn 238, Asn 325, Asn 329, and Asn 350
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for MFGE8 Gene

Domains & Families for MFGE8 Gene

Suggested Antigen Peptide Sequences for MFGE8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q08431

UniProtKB/Swiss-Prot:

MFGM_HUMAN :
  • The F5/8 type C 2 domain mediates high-affinity binding to phosphatidylserine-containing membranes.
Domain:
  • The F5/8 type C 2 domain mediates high-affinity binding to phosphatidylserine-containing membranes.
  • Contains 1 EGF-like domain.
  • Contains 2 F5/8 type C domains.
genes like me logo Genes that share domains with MFGE8: view

No data available for Gene Families for MFGE8 Gene

Function for MFGE8 Gene

Molecular function for MFGE8 Gene

GENATLAS Biochemistry:
human milk fat globule protein,46kDa,murine mammary protein MFG-E8 homolog,associated to apoptosis
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
Medin is the main constituent of aortic medial amyloid.

Gene Ontology (GO) - Molecular Function for MFGE8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with MFGE8: view
genes like me logo Genes that share phenotypes with MFGE8: view

Animal Models for MFGE8 Gene

MGI Knock Outs for MFGE8:

Animal Model Products

miRNA for MFGE8 Gene

miRTarBase miRNAs that target MFGE8

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MFGE8 Gene

Localization for MFGE8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFGE8 Gene

Membrane; Peripheral membrane protein. Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MFGE8 Gene COMPARTMENTS Subcellular localization image for MFGE8 gene
Compartment Confidence
extracellular 5
cytosol 3
plasma membrane 3
cytoskeleton 1
endosome 1
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MFGE8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0009897 external side of plasma membrane IEA --
GO:0019897 extrinsic component of plasma membrane IEA --
genes like me logo Genes that share ontologies with MFGE8: view

Pathways & Interactions for MFGE8 Gene

genes like me logo Genes that share pathways with MFGE8: view

Pathways by source for MFGE8 Gene

1 BioSystems pathway for MFGE8 Gene
2 Reactome pathways for MFGE8 Gene

Gene Ontology (GO) - Biological Process for MFGE8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0007155 cell adhesion IEA --
GO:0044267 cellular protein metabolic process TAS --
GO:0050766 positive regulation of phagocytosis IEA --
genes like me logo Genes that share ontologies with MFGE8: view

No data available for SIGNOR curated interactions for MFGE8 Gene

Drugs & Compounds for MFGE8 Gene

(3) Drugs for MFGE8 Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Monoclonal antibody11D10 anti-idiotype vaccine Pharma Vaccine Vaccines 0
TRIAB Pharma 0

(127) Additional Compounds for MFGE8 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PS(14:0/14:0)
  • 1-Myristoyl-2-myristoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:0)
  • Phosphatidylserine(28:0)
  • PS(14:0/14:0)
  • PS(28:0)
PS(14:0/14:1(9Z))
  • 1-Myristoyl-2-myristoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:1)
  • Phosphatidylserine(14:0/14:1n5)
  • Phosphatidylserine(14:0/14:1w5)
  • Phosphatidylserine(28:1)
PS(14:0/16:0)
  • 1-Myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:0)
  • Phosphatidylserine(30:0)
  • PS(14:0/16:0)
  • PS(30:0)
PS(14:0/16:1(9Z))
  • 1-Myristoyl-2-palmitoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:1)
  • Phosphatidylserine(14:0/16:1n7)
  • Phosphatidylserine(14:0/16:1w7)
  • Phosphatidylserine(30:1)
PS(14:0/18:0)
  • 1-Myristoyl-2-stearoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/18:0)
  • Phosphatidylserine(32:0)
  • PS(14:0/18:0)
  • PS(32:0)
genes like me logo Genes that share compounds with MFGE8: view

Transcripts for MFGE8 Gene

Unigene Clusters for MFGE8 Gene

Milk fat globule-EGF factor 8 protein:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFGE8 Gene

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: - - - - - - - - - - -
SP6: - - - - - -
SP7:
SP8:
SP9: - - - - -
SP10: - - -
SP11:
SP12: - -
SP13: -

ExUns: 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for MFGE8 Gene

GeneLoc Exon Structure for
MFGE8
ECgene alternative splicing isoforms for
MFGE8

Expression for MFGE8 Gene

mRNA expression in normal human tissues for MFGE8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MFGE8 Gene

This gene is overexpressed in Artery - Aorta (x9.9), Artery - Coronary (x6.3), and Artery - Tibial (x4.5).

Protein differential expression in normal tissues from HIPED for MFGE8 Gene

This gene is overexpressed in Milk (42.1) and Amniocyte (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MFGE8 Gene



SOURCE GeneReport for Unigene cluster for MFGE8 Gene Hs.3745

mRNA Expression by UniProt/SwissProt for MFGE8 Gene

Q08431-MFGM_HUMAN
Tissue specificity: Mammary epithelial cell surfaces and aortic media. Overexpressed in several carcinomas.
genes like me logo Genes that share expression patterns with MFGE8: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for MFGE8 Gene

Orthologs for MFGE8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MFGE8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MFGE8 35
  • 99.4 (n)
  • 99.22 (a)
MFGE8 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MFGE8 36
  • 58 (a)
OneToOne
MFGE8 35
  • 75.07 (n)
  • 64.54 (a)
dog
(Canis familiaris)
Mammalia MFGE8 35
  • 76.73 (n)
  • 67.04 (a)
MFGE8 36
  • 57 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfge8 36
  • 51 (a)
OneToOne
Mfge8 16
Mfge8 35
  • 74.56 (n)
  • 62.95 (a)
oppossum
(Monodelphis domestica)
Mammalia MFGE8 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFGE8 36
  • 43 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfge8 35
  • 74.95 (n)
  • 64.6 (a)
chicken
(Gallus gallus)
Aves MFGE8 36
  • 40 (a)
OneToOne
MFGE8 35
  • 67.78 (n)
  • 57.94 (a)
lizard
(Anolis carolinensis)
Reptilia MFGE8 36
  • 45 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12862 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mfge8 35
  • 60.61 (n)
  • 55.68 (a)
zebrafish
(Danio rerio)
Actinopterygii mfge8a 36
  • 40 (a)
OneToMany
mfge8b 36
  • 43 (a)
OneToMany
Dr.28901 35
mfge8b 35
  • 62.51 (n)
  • 55.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2640 36
  • 27 (a)
OneToMany
Species with no ortholog for MFGE8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MFGE8 Gene

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

Paralogs for MFGE8 Gene

Paralogs for MFGE8 Gene

(12) SIMAP similar genes for MFGE8 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MFGE8: view

Variants for MFGE8 Gene

Sequence variations from dbSNP and Humsavar for MFGE8 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1878326 - 88,907,356(-) TGGGC(A/C)TGGAG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs4945 - 88,913,313(-) TGCCG(A/C)GCCCC nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs8530 -- 88,898,947(-) CCTGC(A/G)TCGGC utr-variant-3-prime
rs1064085 -- 88,902,296(-) CATCT(A/G)TAGAA intron-variant
rs1878327 -- 88,907,315(-) GCCTC(A/G)TCTGT nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for MFGE8 Gene

Variant ID Type Subtype PubMed ID
nsv904478 CNV Loss 21882294
nsv1653 CNV Loss 18451855
esv25206 CNV Gain 19812545

Variation tolerance for MFGE8 Gene

Residual Variation Intolerance Score: 51.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.65; 78.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFGE8 Gene

HapMap Linkage Disequilibrium report
MFGE8
Human Gene Mutation Database (HGMD)
MFGE8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFGE8 Gene

Disorders for MFGE8 Gene

MalaCards: The human disease database

(9) MalaCards diseases for MFGE8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
opisthorchiasis
  • infection by opisthorchis
anal paget's disease
  • anal paget disease
simultanagnosia
hidrocystoma
  • apocrine cystadenoma
anus adenocarcinoma
  • adenocarcinoma of anus
- elite association - COSMIC cancer census association via MalaCards
Search MFGE8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MFGE8

Genetic Association Database (GAD)
MFGE8
Human Genome Epidemiology (HuGE) Navigator
MFGE8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFGE8
genes like me logo Genes that share disorders with MFGE8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MFGE8 Gene

Publications for MFGE8 Gene

  1. SED1/MFG-E8: a bi-motif protein that orchestrates diverse cellular interactions. (PMID: 19204935) Raymond A. … Shur B.D. (J. Cell. Biochem. 2009) 2 3 4 23 67
  2. Mapping of a newly discovered human gene homologous to the apoptosis associated-murine mammary protein, MFG-E8, to chromosome 15q25. (PMID: 9027496) Collins C. … Parry G. (Genomics 1997) 2 3 23
  3. Cross-beta spine architecture of fibrils formed by the amyloidogenic segment NFGSVQFV of medin from solid-state NMR and X-ray fiber diffraction measurements. (PMID: 19196164) Madine J. … Middleton D.A. (Biochemistry 2009) 3 23
  4. Genetic polymorphism in milk fat globule-EGF factor 8 (MFG-E8) is associated with systemic lupus erythematosus in human. (PMID: 19502262) Hu C.Y. … Hsu P.N. (Lupus 2009) 3 23
  5. p63(TP63) elicits strong trans-activation of the MFG-E8/lactadherin/BA46 gene through interactions between the TA and DeltaN isoforms. (PMID: 17637751) Okuyama T. … Katoh I. (Oncogene 2008) 3 23

Products for MFGE8 Gene

Sources for MFGE8 Gene

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