MFGE8 - milk fat globule EGF and factor V/VIII domain containing Gene

Homo sapiens

Also known as BA46; HMFG; MFGM; SED1; hP47; EDIL1; MFG-E8; SPAG10; OAcGD3S; HsT19888

Gene ID: 4240 | Gene type: protein coding

About MFGE8

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:88,898,683-88,913,379 (from NCBI)

This gene has 23 transcripts (splice variants), 278 orthologues and 35 paralogues. Broad expression in heart (RPKM 68.1), endometrium (RPKM 47.7) and 22 other tissues.

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 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]

MFGE8 Products(5)

mRNA	Protein	Name
NM_001114614.3	NP_001108086.1	lactadherin isoform b precursor
NM_001310319.2	NP_001297248.1	lactadherin isoform d precursor
NM_001310320.2	NP_001297249.1	lactadherin isoform c
NM_001310321.2	NP_001297250.1	lactadherin isoform e
NM_005928.4	NP_005919.2	lactadherin isoform a preproprotein

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphatidylserine binding	IPI IPI: Inferred from physical interaction	21196491	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MFGE8 Protein Structure

EGF

F5_F8_type_C

0
100
200
300
387 a.a.

Protein Preferred Names

Protein Names

lactadherin

O-acetyl disialoganglioside synthase

Recombinant MFGE8 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P73815	MFG-E8 Protein, Human (sf9, His)	Q08431-1 (L24-C387)	≥95%
HY-P73816	MFG-E8 Protein, Human (Biotinylated, sf9, His-Avi)	Q08431-1 (L24-C387)	≥95%

Related Diseases

Diseases

Alias

Topographical Agnosia

Opisthorchiasis

Infection By Opisthorchis	Infection Due To Opisthorchis
Infection Due To Cat Liver Fluke	Infection By Cat Liver Fluke
Opisthorchiosis	Cat Liver Fluke Fever
Cat Liver Fluke Disease	Opisthorchis Infestation
Cat Liver Fluke Infestation

Anal Paget'S Disease

Anal Paget Disease	Paget'S Disease Of Anus
Paget'S Disease Of The Anus	Paget Disease Of The Anus

Diamond-Blackfan Anemia 9

DBA9	Rps10-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 9

Hidrocystoma

Apocrine Cystadenoma	Eccrine Hidrocystoma
Eccrine Cystadenoma	Eccrine Hidrocystoma Of Skin
Apocrine Adenoma

Sexual Sadism

Sadism

Autoimmune Disease

Autoimmune Diseases	Autoimmune Hypersensitivity Disease
Hypersensitivity Reaction Type Ii Disease	Type Ii Hypersensitivity Reaction Disease

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm	Annuloaortic Ectasia
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Familial Aortic Dissection
Familial Taad	Familial Thoracic Aortic Aneurysm
Congenital Aneurysm Of Ascending Aorta	Familial Aortic Aneurysm
Familial Thoracic Aortic Aneurysm And Dissection	Aortic Aneurysm, Thoracic
AAT1	Faa1
Aortic Dissection, Familial	Aortic Aneurysm, Familial Thoracic
Aneurysm, Thoracic Aortic	Faa
Ftaad	Taa
Taad	Cystic Medial Necrosis Of Aorta
Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection	Aortic Aneurysm Thoracic
Familial Aortic Aneurysms	Aneurysm, Aortic, Thoracic, Familial, Type 1
Aneurysm Of Thoracic Aorta	Intrathoracic Aneurysm
Thoracic Aorta Aneurysm	Thoracic Aortic Aneurysm Without Rupture
Thoracic Aneurysm	Thorax Arterial Aneurysm
Thoracic Artery Aneurysm	Thoracic Arterial Aneurysm
Thorax Aneurysm	Thorax Aortic Aneurysm
Dissection Of Thoracic Aorta

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08381	MFGE8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MFGE8	VGNC	VGNC:68242
Mus musculus	MFGE8	MGD	MGI:102768
Bos taurus	MFGE8	VGNC	VGNC:31426
Canis familiaris	MFGE8	VGNC	VGNC:53186
Rattus norvegicus	MFGE8	RGD	RGD:3083

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