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Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid [ Mus musculus (house mouse) ]

Gene ID: 76574, updated on 11-Apr-2024

Summary

Official Symbol
Mfsd2aprovided by MGI
Official Full Name
MFSD2 lysolipid transporter A, lysophospholipidprovided by MGI
Primary source
MGI:MGI:1923824
See related
Ensembl:ENSMUSG00000028655 AllianceGenome:MGI:1923824
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
NLS1; Mfsd2; 1700018O18Rik
Summary
Enables fatty acid transmembrane transporter activity; lysophosphatidylcholine flippase activity; and lysophospholipid:sodium symporter activity. Involved in central nervous system development; lipid transport; and transcytosis. Acts upstream of or within several processes, including photoreceptor cell development; regulation of lipid metabolic process; and retina development in camera-type eye. Located in plasma membrane. Is integral component of plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 15. Orthologous to human MFSD2A (major facilitator superfamily domain containing 2A). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in genital fat pad adult (RPKM 42.1), liver adult (RPKM 18.7) and 19 other tissues See more
Orthologs
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Genomic context

See Mfsd2a in Genome Data Viewer
Location:
4 D2.2; 4 57.34 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (122840643..122855844, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (122946850..122961194, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene palmitoyl-protein thioesterase 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:122549318-122549471 Neighboring gene cyclase associated actin cytoskeleton regulatory protein 1 Neighboring gene STARR-seq mESC enhancer starr_11277 Neighboring gene STARR-seq mESC enhancer starr_11278 Neighboring gene STARR-positive B cell enhancer ABC_E3510 Neighboring gene STARR-positive B cell enhancer mm9_chr4:122616319-122616620 Neighboring gene CDC28 protein kinase regulatory subunit 2 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E7983 Neighboring gene predicted gene, 54255 Neighboring gene STARR-positive B cell enhancer ABC_E11253 Neighboring gene STARR-positive B cell enhancer ABC_E2710 Neighboring gene v-myc avian myelocytomatosis viral oncogene lung carcinoma derived Neighboring gene STARR-positive B cell enhancer ABC_E3511 Neighboring gene tRNA isopentenyltransferase 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

General gene information

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within brain development ISO
Inferred from Sequence Orthology
more info
 
involved_in carbohydrate transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cellular response to starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of cognition ISO
Inferred from Sequence Orthology
more info
 
NOT involved_in embryonic brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within energy homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT involved_in establishment of blood-brain barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of blood-brain barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT involved_in establishment of blood-retinal barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in fatty acid transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in fatty acid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in fatty acid transport ISO
Inferred from Sequence Orthology
more info
 
involved_in hippocampus development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within lipid transport IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid transport across blood-brain barrier IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in lipid transport across blood-brain barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lipid transport across blood-brain barrier ISO
Inferred from Sequence Orthology
more info
 
involved_in long-chain fatty acid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lysophospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in lysophospholipid translocation ISO
Inferred from Sequence Orthology
more info
 
involved_in lysophospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in lysophospholipid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lysophospholipid transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within maintenance of blood-brain barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within motor behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within photoreceptor cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within photoreceptor cell outer segment organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of triglyceride biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of regulation of dendrite development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of regulation of neuron projection arborization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of regulation of phosphatidylcholine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of regulation of phosphatidylcholine metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of regulation of phosphatidylethanolamine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of regulation of phosphatidylserine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina morphogenesis in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retinal pigment epithelium development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transcytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within very-low-density lipoprotein particle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
sodium-dependent lysophosphatidylcholine symporter 1
Names
major facilitator superfamily domain containing 2
major facilitator superfamily domain containing 2A
major facilitator superfamily domain-containing protein 2A
sodium-dependent LPC symporter 1

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_029662.2NP_083938.2  sodium-dependent lysophosphatidylcholine symporter 1

    See identical proteins and their annotated locations for NP_083938.2

    Status: VALIDATED

    Source sequence(s)
    BC060526, BX525587
    Consensus CDS
    CCDS18605.1
    UniProtKB/Swiss-Prot
    Q80ZW8, Q9DA75
    Related
    ENSMUSP00000030408.6, ENSMUST00000030408.12
    Conserved Domains (2) summary
    pfam13347
    Location:45500
    MFS_2; MFS/sugar transport protein
    cl21472
    Location:39502
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    122840643..122855844 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006503477.4XP_006503540.1  sodium-dependent lysophosphatidylcholine symporter 1 isoform X1

    Conserved Domains (1) summary
    cl28910
    Location:44499
    MFS; Major Facilitator Superfamily
  2. XM_036164528.1XP_036020421.1  sodium-dependent lysophosphatidylcholine symporter 1 isoform X2

    Conserved Domains (1) summary
    cl28910
    Location:32487
    MFS; Major Facilitator Superfamily

RNA

  1. XR_004942002.1 RNA Sequence