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

Gene ID: 4240, updated on 10-Oct-2024

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
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Genomic context

See MFGE8 in Genome Data Viewer
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_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370960 Neighboring gene aggrecan Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89390146-89390646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89390647-89391147 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89391205-89391372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89421781-89422356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89428493-89429204 Neighboring gene hyaluronan and proteoglycan link protein 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89438001-89438612 Neighboring gene Sharpr-MPRA regulatory region 11373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89450127-89451112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89455820-89456351 Neighboring gene CRISPRi-validated cis-regulatory element chr15.3122 Neighboring gene CRISPRi-validated cis-regulatory element chr15.3123 Neighboring gene CRISPRi-validated cis-regulatory element chr15.3124 Neighboring gene non-histone chromosomal protein HMG-14-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10038 Neighboring gene keratin 18 pseudogene 47

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

General protein information

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)

  1. NM_001114614.3NP_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:69225
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00054
    Location:2867
    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:72224
    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:245332
    F5_F8_type_C; F5/8 type C domain
  2. NM_001310319.2NP_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:185343
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00057
    Location:188342
    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.
  3. NM_001310320.2NP_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:221379
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00054
    Location:2059
    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:224378
    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.
  4. NM_001310321.2NP_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:117275
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00057
    Location:120274
    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.
  5. NM_005928.4NP_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:2867
    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:232386
    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.

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    88898683..88913379 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432533.1XP_047288489.1  lactadherin isoform X1

  2. XM_047432534.1XP_047288490.1  lactadherin isoform X2

  3. XM_017022206.3XP_016877695.1  lactadherin isoform X3

    UniProtKB/TrEMBL
    A0A8Q3SI86, A0A8Q3SIZ9
    Related
    ENSP00000512163.1, ENST00000695568.1
  4. XM_047432535.1XP_047288491.1  lactadherin isoform X4

RNA

  1. XR_931838.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    86653326..86668022 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377955.1XP_054233930.1  lactadherin isoform X1

  2. XM_054377956.1XP_054233931.1  lactadherin isoform X2

  3. XM_054377957.1XP_054233932.1  lactadherin isoform X3

    UniProtKB/TrEMBL
    A0A8Q3SIZ9
  4. XM_054377958.1XP_054233933.1  lactadherin isoform X4

RNA

  1. XR_008488950.1 RNA Sequence