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Mfsd2a Gene Detail
Summary
  • Symbol
    Mfsd2a
  • Name
    major facilitator superfamily domain containing 2A
  • Synonyms
    1700018O18Rik, Mfsd2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923824
    NCBI Gene: 76574
  • Gene Overview
    MyGene.info: MFSD2A
Location & Maps
more
  • Sequence Map
    Chr4:122946850-122961188 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14339 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 57.34 cM, cytoband D1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    MFSD2A, major facilitator superfamily domain containing 2A
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MFSD2A, major facilitator superfamily domain containing 2A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MCPH15, MFSD2, NLS1
  • Links
    NCBI Gene ID: 84879
    neXtProt AC: NX_Q8NA29

  • Chr Location
    1p34.2; chr1:39955112-39969968 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human MFSD2A associations

Human Disease Mouse Models
       Microcephaly 15, Primary, Autosomal Recessive; MCPH15   OMIM: 616486
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 3 alleles in 3 genetic backgrounds
    3 images
    19 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.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    2
  • Gene trapped
    2
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    4 involving Mfsd2a
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit partial postnatal lethality, decreased body weight, pronounced ataxia, and altered metabolism. Mice homozygous for a different knock-out allele show a leaky blood-brain barrier and a dramatic increase in CNS-endothelial-cell vesicular transcytosis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008939 VEGA Gene Model | MGI Sequence Detail 14339 C57BL/6J ±  kb
transcript OTTMUST00000020307 VEGA | MGI Sequence Detail 2151 Not Applicable  
polypeptide OTTMUSP00000009315 VEGA | MGI Sequence Detail 534 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    81 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000032118 sodium-dependent lysophosphatidylcholine symporter 1
  • InterPro Domains
    IPR020846 Major facilitator superfamily domain
Molecular
Reagents
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  • All nucleic 21
    cDNA 21

    Microarray probesets 3
References
more
  • Summaries
    All 36
    Developmental Gene Expression 4
    Gene Ontology 4
    Phenotypes 19
  • 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:234197 Wong BH, et al., Mfsd2a Is a Transporter for the Essential omega-3 Fatty Acid Docosahexaenoic Acid (DHA) in Eye and Is Important for Photoreceptor Cell Development. J Biol Chem. 2016 May 13;291(20):10501-14

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory