Gene Gene information from NCBI Gene database.
Entrez ID 4240
Gene name Milk fat globule EGF and factor V/VIII domain containing
Gene symbol MFGE8
Synonyms (NCBI Gene)
BA46EDIL1HMFGHsT19888MFG-E8MFGMOAcGD3SSED1SPAG10hP47
Chromosome 15
Chromosome location 15q26.1
Summary 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 imp
miRNA miRNA information provided by mirtarbase database.
74
miRTarBase ID miRNA Experiments Reference
MIRT017018 hsa-miR-335-5p Microarray 18185580
MIRT038170 hsa-miR-423-5p CLASH 23622248
MIRT1551273 hsa-miR-1 CLIP-seq
MIRT1551274 hsa-miR-1207-5p CLIP-seq
MIRT1551275 hsa-miR-185 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001786 Function Phosphatidylserine binding IBA
GO:0001786 Function Phosphatidylserine binding IPI 21196491
GO:0002080 Component Acrosomal membrane IEA
GO:0005178 Function Integrin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602281 7036 ENSG00000140545
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q08431
Protein name Lactadherin (Breast epithelial antigen BA46) (HMFG) (MFGM) (Milk fat globule-EGF factor 8) (MFG-E8) (SED1) [Cleaved into: Lactadherin short form; Medin]
Protein 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 tissue
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00008 EGF 27 65 EGF-like domain Domain
PF00754 F5_F8_type_C 85 222 F5/8 type C domain Domain
PF00754 F5_F8_type_C 245 384 F5/8 type C domain Domain
Tissue specificity TISSUE SPECIFICITY: Mammary epithelial cell surfaces and aortic media. Overexpressed in several carcinomas.
Sequence
Sequence length 387
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Efferocytosis   Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Amyloid fiber formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Likely benign rs148279922 RCV005907375
Malignant tumor of urinary bladder Likely benign rs148279922 RCV005907374
Ovarian serous cystadenocarcinoma Likely benign rs148279922 RCV005907377
Sarcoma Likely benign rs148279922 RCV005907376
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 24602872, 25614623, 36433666
Acute Lung Injury Inhibit 25936372, 37774691
Alopecia Associate 31811237
Alzheimer Disease Associate 25614623, 37914766
Aortic Aneurysm Abdominal Associate 22797469
Arthritis Infectious Associate 23324439
Ascites Associate 36484512
Atherosclerosis Associate 30861420
Brain Ischemia Associate 35005020
Breast Neoplasms Associate 37704733