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Mfge8 Gene Detail
Summary
  • Symbol
    Mfge8
  • Name
    milk fat globule EGF and factor V/VIII domain containing
  • Synonyms
    EGF/factor VIII, lactadherin, MFG-E8, Mfgm, SED1
  • Feature Type
    protein coding gene
  • IDs
    MGI:102768
    NCBI Gene: 17304
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:78783516-78798808 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 44.90 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    475 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102768
 protein coding gene Chr7:78783516-78798808 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032385
 protein coding gene Chr7:80989409-81004662 (-)
A/J MGP_AJ_G0032364
 protein coding gene Chr7:79136380-79152380 (-)
AKR/J MGP_AKRJ_G0032300
 protein coding gene Chr7:80826266-80844455 (-)
BALB/cJ MGP_BALBcJ_G0032376
 protein coding gene Chr7:78834788-78850071 (-)
C3H/HeJ MGP_C3HHeJ_G0032089
 protein coding gene Chr7:81492705-81507964 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032868
 protein coding gene Chr7:84183602-84201828 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029876
 protein coding gene Chr7:81686416-81701610 (-)
CAST/EiJ MGP_CASTEiJ_G0031417
 protein coding gene Chr7:72353505-72386888 (-)
CBA/J MGP_CBAJ_G0032055
 protein coding gene Chr7:86994666-87012820 (-)
DBA/2J MGP_DBA2J_G0032210
 protein coding gene Chr7:77720749-77736338 (-)
FVB/NJ MGP_FVBNJ_G0032165
 protein coding gene Chr7:77626165-77642034 (-)
LP/J MGP_LPJ_G0032291
 protein coding gene Chr7:82239822-82256203 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032202
 protein coding gene Chr7:87212632-87227885 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032886
 protein coding gene Chr7:80279180-80296593 (-)
PWK/PhJ MGP_PWKPhJ_G0031137
 protein coding gene Chr7:70877369-70894384 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030978
 protein coding gene Chr7:67268249-67283552 (-)
WSB/EiJ MGP_WSBEiJ_G0031535
 protein coding gene Chr7:80599763-80615016 (-)



Homology
more
  • Human Ortholog
    MFGE8, milk fat globule EGF and factor V/VIII domain containing
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MFGE8, milk fat globule EGF and factor V/VIII domain containing
  • Synonyms
    BA46, EDIL1, HMFG, hP47, HsT19888, MFG-E8, MFGM, OAcGD3S, SED1, SPAG10
  • Links
    NCBI Gene ID: 4240
    neXtProt AC: NX_Q08431
    UniProt: Q08431

  • Chr Location
    15q26.1; chr15:88898683-88913468 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human MFGE8 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 4 alleles in 7 genetic backgrounds
    9 phenotypes from multigenic genotypes
    98 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice. Splenomegaly occurs with age and defects occur in phagocytosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    976
  • Tissues
    103
  • cDNA Data
    1287
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17304 NCBI Gene Model | MGI Sequence Detail 15293 C57BL/6J ±  kb
    transcript NM_008594 RefSeq | MGI Sequence Detail 2143 ZRU/MplStud  
    polypeptide P21956 UniProt | EBI | MGI Sequence Detail 463 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000010367 lactadherin
      (term hierarchy)
    • PDB
      2L9L
    • InterPro Domains
      IPR000421 Coagulation factor 5/8 C-terminal domain
      IPR000742 EGF-like domain
      IPR008979 Galactose-binding-like domain superfamily
      IPR050633 Neuropilin/Multicopper Oxidase/Coagulation Factor
    • GlyGen
      P21956 5 sites, 3 N-linked glycans (2 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 1293
      cDNA 1287
      Primer pair 6

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-19675, MGI:2141815, MGI:2141915
    References
    more
    • Summaries
      All 166
      Developmental Gene Expression 19
      Gene Ontology 8
      Phenotypes 98
    • Earliest
      J:10818 Stubbs JD, et al., cDNA cloning of a mouse mammary epithelial cell surface protein reveals the existence of epidermal growth factor-like domains linked to factor VIII-like sequences. Proc Natl Acad Sci U S A. 1990 Nov;87(21):8417-21
    • Latest
      J:345661 Datta R, et al., PTP1B mediates the inhibitory effect of MFGE8 on insulin signaling through the beta5 integrin. J Biol Chem. 2024 Jan 8;300(2):105631
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory