MFGE8 milk fat globule EGF and factor V/VIII domain containing [Homo sapiens (human)] - Gene

Summary

Official Symbol: MFGE8provided by HGNC
Official Full Name: milk fat globule EGF and factor V/VIII domain containingprovided by HGNC
Primary source: HGNC:HGNC:7036
See related: Ensembl:ENSG00000140545 MIM:602281; AllianceGenome:HGNC:7036
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BA46; HMFG; MFGM; SED1; hP47; EDIL1; MFG-E8; SPAG10; OAcGD3S; HsT19888
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]
Expression: Broad expression in heart (RPKM 68.1), endometrium (RPKM 47.7) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (88898683..88913379, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (86653326..86668022, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (89441914..89456610, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Potent CTLs can be induced against tumor cells in an environment of lower levels of systemic MFG-E8.
Title: Potent CTLs can be induced against tumor cells in an environment of lower levels of systemic MFG-E8.
MFG-E8 induces epithelial-mesenchymal transition and anoikis resistance to promote the metastasis of pancreatic cancer cells.
Title: MFG-E8 induces epithelial-mesenchymal transition and anoikis resistance to promote the metastasis of pancreatic cancer cells.
PTP1B mediates the inhibitory effect of MFGE8 on insulin signaling through the beta5 integrin.
Title: PTP1B mediates the inhibitory effect of MFGE8 on insulin signaling through the β5 integrin.
Lactadherin immunoblockade in small extracellular vesicles inhibits sEV-mediated increase of pro-metastatic capacities.
Title: Lactadherin immunoblockade in small extracellular vesicles inhibits sEV-mediated increase of pro-metastatic capacities.
Expression and clinical association of MFG-E8 and TAM receptors in diabetic patients with different stages of microvascular complication: An experimental study.
Title: Expression and clinical association of MFG-E8 and TAM receptors in diabetic patients with different stages of microvascular complication: An experimental study.
Transcriptomic analyses reveal proinflammatory activation of human brain microvascular endothelial cells by aging-associated peptide medin and reversal by nanoliposomes.
Title: Transcriptomic analyses reveal proinflammatory activation of human brain microvascular endothelial cells by aging-associated peptide medin and reversal by nanoliposomes.
Targeting MFGE8 secreted by cancer-associated fibroblasts blocks angiogenesis and metastasis in esophageal squamous cell carcinoma.
Title: Targeting MFGE8 secreted by cancer-associated fibroblasts blocks angiogenesis and metastasis in esophageal squamous cell carcinoma.
Human astrocytes and microglia show augmented ingestion of synapses in Alzheimer's disease via MFG-E8.
Title: Human astrocytes and microglia show augmented ingestion of synapses in Alzheimer's disease via MFG-E8.
CircSMAD2 accelerates endometrial cancer cell proliferation and metastasis by regulating the miR-1277-5p/MFGE8 axis.
Title: CircSMAD2 accelerates endometrial cancer cell proliferation and metastasis by regulating the miR-1277-5p/MFGE8 axis.
Medin co-aggregates with vascular amyloid-beta in Alzheimer's disease.
Title: Medin co-aggregates with vascular amyloid-β in Alzheimer's disease.

Submit: New GeneRIF Correction See all GeneRIFs (90)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat downregulates the expression of milk fat globule-EGF factor 8 protein (MFGE8) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G15928 (e-PCR)
- UniSTS:50727

SHGC-52839 (e-PCR)
- UniSTS:82810

D15S168E (e-PCR)
- UniSTS:473012

D15S630E (e-PCR)
- UniSTS:149969

PMC311040P3 (e-PCR)
- UniSTS:272860

RH78066 (e-PCR)
- UniSTS:14832

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylserine binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in apoptotic cell clearance	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in single fertilization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular vesicle	HDA more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: lactadherin

Names: O-acetyl disialoganglioside synthase; breast epithelial antigen BA46; medin; milk fat globule-EGF factor 8 protein; sperm associated antigen 10; sperm surface protein hP47

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001114614.3 → NP_001108086.1 lactadherin isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AK222735, BC003610, BU726667

Consensus CDS

CCDS45345.1

UniProtKB/TrEMBL

B3KTQ2

Related

ENSP00000268151.7, ENST00000268151.11

Conserved Domains (4) summary

smart00231
Location:69 → 225

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00054
Location:28 → 67

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00057
Location:72 → 224

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

pfam00754
Location:245 → 332

F5_F8_type_C; F5/8 type C domain
NM_001310319.2 → NP_001297248.1 lactadherin isoform d precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (d) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AK222735, AK304627, BU726667, HY079149

Consensus CDS

CCDS81918.1

UniProtKB/TrEMBL

B4E396

Related

ENSP00000444332.1, ENST00000542878.5

Conserved Domains (2) summary

smart00231
Location:185 → 343

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:188 → 342

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
NM_001310320.2 → NP_001297249.1 lactadherin isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an alternate internal exon resulting in the use of an alternate translation start site, compared to variant 1. The encoded isoform (c) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AK095908, AK222735, BU726667, HY079149

Consensus CDS

CCDS92058.1

UniProtKB/TrEMBL

B3KTQ2, H0YKB5

Related

ENSP00000452734.2, ENST00000558018.5

Conserved Domains (3) summary

smart00231
Location:221 → 379

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00054
Location:20 → 59

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00057
Location:224 → 378

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
NM_001310321.2 → NP_001297250.1 lactadherin isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) includes an alternate 5' terminal exon resulting in the use of a downstream in-frame translation start site, compared to variant 1. The encoded isoform (e) has a shorter N-terminus than isoform a.

Source sequence(s)

AC067805, AK222735, BP219231, BU726667, BX537974

Consensus CDS

CCDS92057.1

UniProtKB/TrEMBL

B4E396

Related

ENSP00000512026.1, ENST00000695566.1

Conserved Domains (2) summary

smart00231
Location:117 → 275

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:120 → 274

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
NM_005928.4 → NP_005919.2 lactadherin isoform a preproprotein

See identical proteins and their annotated locations for NP_005919.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AK222735, BU726667

Consensus CDS

CCDS10347.1

UniProtKB/Swiss-Prot

B2R6M7, F5GZN3, Q08431, Q53FU9, Q7Z3D2, Q9BTL9

UniProtKB/TrEMBL

B3KTQ2

Related

ENSP00000268150.8, ENST00000268150.13

Conserved Domains (2) summary

cd00054
Location:28 → 67

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00057
Location:232 → 386

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.