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Mfsd2a Gene Detail
Summary
  • Symbol
    Mfsd2a
  • Name
    MFSD2 lysolipid transporter A, lysophospholipid
  • Synonyms
    1700018O18Rik, major facilitator superfamily domain containing 2A, Mfsd2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923824
    NCBI Gene: 76574
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:122840643-122854981 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 57.34 cM, cytoband D1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    369 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923824
 protein coding gene Chr4:122840643-122855844 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028729
 protein coding gene Chr4:124333889-124348214 (-)
A/J MGP_AJ_G0028688
 protein coding gene Chr4:119485500-119499899 (-)
AKR/J MGP_AKRJ_G0028642
 protein coding gene Chr4:122708899-122724306 (-)
BALB/cJ MGP_BALBcJ_G0028711
 protein coding gene Chr4:120064666-120079882 (-)
C3H/HeJ MGP_C3HHeJ_G0028426
 protein coding gene Chr4:122833395-122848121 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029153
 protein coding gene Chr4:129149024-129163356 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026426
 protein coding gene Chr4:112726523-112740930 (-)
CAST/EiJ MGP_CASTEiJ_G0027858
 protein coding gene Chr4:120827550-120843572 (-)
CBA/J MGP_CBAJ_G0028393
 protein coding gene Chr4:132420121-132435475 (-)
DBA/2J MGP_DBA2J_G0028540
 protein coding gene Chr4:120001557-120015854 (-)
FVB/NJ MGP_FVBNJ_G0028507
 protein coding gene Chr4:118610210-118625830 (-)
LP/J MGP_LPJ_G0028641
 protein coding gene Chr4:124607001-124624835 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028535
 protein coding gene Chr4:137376565-137391797 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029190
 protein coding gene Chr4:123077140-123092967 (-)
PWK/PhJ MGP_PWKPhJ_G0027580
 protein coding gene Chr4:116384999-116404866 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027406
 protein coding gene Chr4:118905380-118919684 (-)
WSB/EiJ MGP_WSBEiJ_G0027938
 protein coding gene Chr4:123175797-123190141 (-)



Homology
more
  • Human Ortholog
    MFSD2A, MFSD2 lysolipid transporter A, lysophospholipid
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MFSD2A, MFSD2 lysolipid transporter A, lysophospholipid
  • Synonyms
    HsMFSD2A, MCPH15, MFSD2, NEDMISBA, NLS1, SLC59A1
  • Links
    NCBI Gene ID: 84879
    neXtProt AC: NX_Q8NA29
    UniProt: Q8NA29

  • Chr Location
    1p34.2; chr1:39955112-39969968 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human MFSD2A 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
    47 phenotypes from 4 alleles in 5 genetic backgrounds
    7 images
    39 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.
Homozygotes for a null allele show partial postnatal lethality, reduced body weight, ataxia, and alterations in lipid metabolism and photoreceptor cell development. Homozygotes for a different null allele show a leaky blood-brain barrier and increased CNS-endothelial-cell vesicular transcytosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    54
  • GO References
    14
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
    890
  • Tissues
    49
  • cDNA Data
    23
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028655 Ensembl Gene Model | MGI Sequence Detail 14339 C57BL/6J ±  kb
    transcript ENSMUST00000030408 Ensembl | MGI Sequence Detail 2151 Not Applicable  
    polypeptide ENSMUSP00000030408 Ensembl | MGI Sequence Detail 534 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 23

      Microarray probesets 3
    References
    more
    • Summaries
      All 77
      Developmental Gene Expression 9
      Gene Ontology 14
      Phenotypes 39
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:358096 Pfau SJ, et al., Characteristics of blood-brain barrier heterogeneity between brain regions revealed by profiling vascular and perivascular cells. Nat Neurosci. 2024 Oct;27(10):1892-1903
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory