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 pro... See more...

Aliases for MFGE8 Gene

Aliases for MFGE8 Gene

  • Milk Fat Globule-EGF Factor 8 Protein 2 3 5
  • Lactadherin 2 3 4
  • 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 Anal Paget's Disease and Opisthorchiasis. Among its related pathways are Integrins in angiogenesis and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include integrin binding and phosphatidylethanolamine binding. An important paralog of this gene is EDIL3.

UniProtKB/Swiss-Prot Summary 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.
  • Medin is the main constituent of aortic medial amyloid.

Gene Wiki entry for MFGE8 Gene

Additional gene information for MFGE8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFGE8 Gene

Genomics for MFGE8 Gene

GeneHancer (GH) Regulatory Elements for MFGE8 Gene

Promoters and enhancers for MFGE8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFGE8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFGE8

Top Transcription factor binding sites by QIAGEN in the MFGE8 gene promoter:
  • AML1a
  • E47
  • Hand1
  • ITF-2
  • Pax-2
  • Pax-2a
  • Pax-2b
  • SRF
  • SRF (504 AA)
  • Tal-1beta

Genomic Locations for MFGE8 Gene

Genomic Locations for MFGE8 Gene
chr15:88,898,683-88,913,454
(GRCh38/hg38)
Size:
14,772 bases
Orientation:
Minus strand
chr15:89,441,914-89,456,663
(GRCh37/hg19)
Size:
14,750 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
    • F5GZN3
    • Q53FU9
    • Q7Z3D2
    • Q9BTL9

    Protein attributes for MFGE8 Gene

    Size:
    387 amino acids
    Molecular mass:
    43105 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: It is unsure whether Met-1 or an upstream Met is the initiator as the upstream Met corresponds to polymorphism rs1879326.

    Alternative splice isoforms for MFGE8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFGE8 Gene

Post-translational modifications for MFGE8 Gene

  • Medin has a ragged N-terminus with minor species starting at Pro-264 and Gly-273.
  • Glycosylation at Asn228, Asn238, Asn325, Asn329, and Asn350
  • Ubiquitination at Lys156
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for MFGE8 Gene

Domains & Families for MFGE8 Gene

Gene Families for MFGE8 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted secreted proteins

Protein Domains for MFGE8 Gene

Blocks:
  • Type I EGF
  • Coagulation factor 5/8 type C domain (FA58C)
  • Type II EGF-like signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFGE8 Gene

GenScript: Design optimal peptide antigens:
  • SED1 (MFGM_HUMAN)
  • HP47 protein (P78328_HUMAN)

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.
genes like me logo Genes that share domains with MFGE8: view

Function for MFGE8 Gene

Molecular function for MFGE8 Gene

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

Phenotypes From GWAS Catalog for MFGE8 Gene

Gene Ontology (GO) - Molecular Function for MFGE8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IEA --
GO:0005178 integrin binding IEA --
GO:0005201 extracellular matrix structural constituent RCA 20551380
GO:0008429 phosphatidylethanolamine 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

  • Taconic Biosciences Mouse Models for MFGE8

CRISPR Products

Clone Products

  • Addgene plasmids for MFGE8

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFGE8 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MFGE8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space HDA 16502470
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
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

Gene Ontology (GO) - Biological Process for MFGE8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0006910 phagocytosis, recognition IEA --
GO:0006911 phagocytosis, engulfment IEA --
GO:0007155 cell adhesion IEA --
GO:0007338 single fertilization 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(28:0)
  • pSer(14:0/14:0)
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(30:0)
  • pSer(14:0/16:0)
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(32:0)
  • pSer(14:0/18:0)
genes like me logo Genes that share compounds with MFGE8: view

Transcripts for MFGE8 Gene

mRNA/cDNA for MFGE8 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for MFGE8

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

Expression for MFGE8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MFGE8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFGE8

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.

Evidence on tissue expression from TISSUES for MFGE8 Gene

  • Eye(4.7)
  • Pancreas(4.7)
  • Skin(4.7)
  • Nervous system(4.7)
  • Heart(3.4)
  • Lung(3.4)
  • Intestine(3)
  • Muscle(2.9)
  • Lymph node(2.6)
  • Spleen(2.4)
  • Kidney(2.1)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with MFGE8: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MFGE8 31 30
  • 76.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MFGE8 31 30
  • 75.07 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfge8 30
  • 74.95 (n)
mouse
(Mus musculus)
Mammalia Mfge8 17 31 30
  • 74.56 (n)
oppossum
(Monodelphis domestica)
Mammalia MFGE8 31
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFGE8 31
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFGE8 31 30
  • 67.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFGE8 31
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfge8 30
  • 60.61 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12862 30
zebrafish
(Danio rerio)
Actinopterygii mfge8b 31 30
  • 62.51 (n)
OneToMany
mfge8a 31
  • 40 (a)
OneToMany
Dr.28901 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2640 31
  • 27 (a)
OneToMany
Species where no ortholog for MFGE8 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MFGE8: view image

Paralogs for MFGE8 Gene

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

  • MFGM_HUMAN
  • F5GZN3_HUMAN
  • F5H7N9_HUMAN
  • H0YKB5_HUMAN
  • H0YKS8_HUMAN
genes like me logo Genes that share paralogs with MFGE8: view

Variants for MFGE8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFGE8 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs1878326 - p.Leu76Met
rs4945 - p.Arg3Ser

Additional dbSNP identifiers (rs#s) for MFGE8 Gene

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

Variant ID Type Subtype PubMed ID
esv25206 CNV gain 19812545
nsv1653 CNV deletion 18451855

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)

Additional Variant Information for MFGE8 Gene

Human Gene Mutation Database (HGMD)
MFGE8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFGE8

SNP Genotyping and Copy Number Assay Products

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

Disorders for MFGE8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
anal paget's disease
  • anal paget disease
opisthorchiasis
  • infection by opisthorchis
topographical agnosia
schizophrenia 3
  • sczd3
carpal tunnel syndrome
  • cts1
- elite association - COSMIC cancer census association via MalaCards
Search MFGE8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MFGE8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 BD (Journal of cellular biochemistry 2009) 2 3 4 23 54
  2. Genetic polymorphism in milk fat globule-EGF factor 8 (MFG-E8) is associated with systemic lupus erythematosus in human. (PMID: 19502262) Hu CY … Hsu PN (Lupus 2009) 3 23 41 54
  3. Medin: an integral fragment of aortic smooth muscle cell-produced lactadherin forms the most common human amyloid. (PMID: 10411933) Häggqvist B … Westermark P (Proceedings of the National Academy of Sciences of the United States of America 1999) 3 4 23 54
  4. 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 54
  5. Lactadherin (formerly BA46), a membrane-associated glycoprotein expressed in human milk and breast carcinomas, promotes Arg-Gly-Asp (RGD)-dependent cell adhesion. (PMID: 9260929) Taylor MR … Peterson JA (DNA and cell biology 1997) 3 4 23 54

Products for MFGE8 Gene

Sources for MFGE8 Gene