• Gene id: 4240

Gene Summary

• Gene Symbol: MFGE8   Gene   UCSC   Ensembl
• Aliases: BA46, EDIL1, HMFG, HsT19888, MFG-E8, MFGM, OAcGD3S, SED1, SPAG10, hP47
• Gene name: milk fat globule EGF and factor V/VIII domain containing
• Alternate names: lactadherin, O-acetyl disialoganglioside synthase, breast epithelial antigen BA46, medin, milk fat globule-EGF factor 8 protein, sperm associated antigen 10, sperm surface protein hP47,
• Gene location: 15q26.1 (35103194: 35099775)     Exons: 10     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 602281

SNPs

rs12870438

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.42906069G>A
NC_000013.10   g.43480205G>A
NG_051573.1   g.91244C>T|SEQ=[G/A]|GENE=EPSTI1

Protein Summary

• Protein general information: Q08431  
  • Name: Lactadherin (Breast epithelial antigen BA46) (HMFG) (MFGM) (Milk fat globule EGF factor 8) (MFG E8) (SED1) [Cleaved into: Lactadherin short form; Medin]
  • Length: 387  
  • Mass: 43105
  • Tissue specificity: Mammary epithelial cell surfaces and aortic media. Overexpressed in several carcinomas.
• Sequence:

  MPRPRLLAALCGALLCAPSLLVALDICSKNPCHNGGLCEEISQEVRGDVFPSYTCTCLKGYAGNHCETKCVEPLG
  LENGNIANSQIAASSVRVTFLGLQHWVPELARLNRAGMVNAWTPSSNDDNPWIQVNLLRRMWVTGVVTQGASRLA
  SHEYLKAFKVAYSLNGHEFDFIHDVNKKHKEFVGNWNKNAVHVNLFETPVEAQYVRLYPTSCHTACTLRFELLGC
  ELNGCANPLGLKNNSIPDKQITASSSYKTWGLHLFSWNPSYARLDKQGNFNAWVAGSYGNDQWLQVDLGSSKEVT
  GIITQGARNFGSVQFVASYKVAYSNDSANWTEYQDPRTGSSKIFPGNWDNHSHKKNLFETPILARYVRILPVAWH
  NRIALRLELLGC

• Structural information:
  • Protein Domains: (24..6-)
    (/note="EGF-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (70..22-)
    C (/note="F5/8-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00081-)
    (230..38-)
    C (/note="F5/8-type)
    (/evidence="ECO:0000255|PROSITE-ProRul-)
  • Interpro: IPR013032  IPR000742  IPR000421  IPR008979  IPR027060  
  • Prosite: PS00022 PS01186 PS50026 PS01285 PS01286 PS50022
  • CDD: cd00057
  • STRING: ENSP00000268150
• Other Databases: GeneCards:  MFGE8  Malacards:  MFGE8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001786	phosphatidylserine binding	IPI	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007338	single fertilization	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0050766	positive regulation of phagocytosis	IEA	biological process
GO:0043277	apoptotic cell clearance	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0008429	phosphatidylethanolamine binding	IEA	molecular function
GO:0006911	phagocytosis, engulfment	IEA	biological process
GO:0005178	integrin binding	IEA	molecular function
GO:0019897	extrinsic component of plasma membrane	IEA	cellular component
GO:0006910	phagocytosis, recognition	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0001786	phosphatidylserine binding	IEA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Temporal arteritis	PMID:11748647
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray