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

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 long-chain fatty acid transmembrane transporter activity; lysophosphatidylcholine flippase activity; and lysophospholipid:sodium symporter activity. Involved in several processes, including central nervous system development; lipid transport across blood-brain barrier; and lysophospholipid transport. 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 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 (MFSD2 lysolipid transporter A, lysophospholipid). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in genital fat pad adult (RPKM 42.1), liver adult (RPKM 18.7) and 19 other tissues See more
Orthologs: human all
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Genomic context

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mfsd2a regulates the blood-labyrinth-barrier formation and function through tight junctions and transcytosis.
Title: Mfsd2a regulates the blood-labyrinth-barrier formation and function through tight junctions and transcytosis.
Mfsd2a-mediated lysolipid transport is important for renal recovery after acute kidney injury.
Title: Mfsd2a-mediated lysolipid transport is important for renal recovery after acute kidney injury.
Deficiency in the omega-3 lysolipid transporter Mfsd2a leads to aberrant oligodendrocyte lineage development and hypomyelination.
Title: Deficiency in the omega-3 lysolipid transporter Mfsd2a leads to aberrant oligodendrocyte lineage development and hypomyelination.
The Role of Major Facilitator Superfamily Domain-Containing 2a in the Central Nervous System.
Title: The Role of Major Facilitator Superfamily Domain-Containing 2a in the Central Nervous System.
Mfsd2a attenuated hypoxic-ischemic brain damage via protection of the blood-brain barrier in mfat-1 transgenic mice.
Title: Mfsd2a attenuated hypoxic-ischemic brain damage via protection of the blood-brain barrier in mfat-1 transgenic mice.
The lipid transporter Mfsd2a maintains pulmonary surfactant homeostasis.
Title: The lipid transporter Mfsd2a maintains pulmonary surfactant homeostasis.
Structure and mechanism of blood-brain-barrier lipid transporter MFSD2A.
Title: Structure and mechanism of blood-brain-barrier lipid transporter MFSD2A.
Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye.
Title: Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye.
These findings suggest endothelial Mfsd2a as an important pathogenic mediator and supplementation with docosahexaenoic acid as a potential therapeutic option for Zika virus infection.
Title: Zika virus degrades the ω-3 fatty acid transporter Mfsd2a in brain microvascular endothelial cells and impairs lipid homeostasis.
that miR-155 targeted Mfsd2a in endothelial cells and motoneurons and increased endothelial cell permeability
Title: MiR-155 deletion reduces ischemia-induced paralysis in an aortic aneurysm repair mouse model: Utility of immunohistochemistry and histopathology in understanding etiology of spinal cord paralysis.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

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

Endonuclease-mediated (9) 1 citation
Targeted (6) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables fatty acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables long-chain fatty acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables long-chain fatty acid transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables lysophosphatidylcholine flippase activity	IDA Inferred from Direct Assay more info	PubMed
enables lysophospholipid:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables lysophospholipid:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables lysophospholipid:sodium symporter activity	ISO Inferred from Sequence Orthology more info
enables oleate transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables oleate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables symporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

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
involved_in cognition	IEA Inferred from Electronic Annotation more info
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
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	IEA Inferred from Electronic Annotation 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
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
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 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

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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)

NM_029662.2 → NP_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:45 → 500

MFS_2; MFS/sugar transport protein

cl21472
Location:39 → 502

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

NC_000070.7 Reference GRCm39 C57BL/6J

Range

122840643..122855844 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

cl28910
Location:44 → 499

MFS; Major Facilitator Superfamily
XM_036164528.1 → XP_036020421.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform X2

Conserved Domains (1) summary

cl28910
Location:32 → 487

MFS; Major Facilitator Superfamily