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Aliases for MFSD2A Gene

Aliases for MFSD2A Gene

  • Major Facilitator Superfamily Domain Containing 2A 2 3
  • Major Facilitator Superfamily Domain-Containing Protein 2A 3 4
  • Sodium-Dependent LPC Symporter 1 3 4
  • MFSD2 3 4
  • NLS1 3 4
  • Sodium-Dependent Lysophosphatidylcholine Symporter 1 3
  • Major Facilitator Superfamily Domain Containing 2 2

External Ids for MFSD2A Gene

Previous HGNC Symbols for MFSD2A Gene

  • MFSD2

Previous GeneCards Identifiers for MFSD2A Gene

  • GC01P040194
  • GC01P040421
  • GC01P038539

Summaries for MFSD2A Gene

GeneCards Summary for MFSD2A Gene

MFSD2A (Major Facilitator Superfamily Domain Containing 2A) is a Protein Coding gene. An important paralog of this gene is MFSD2B.

UniProtKB/Swiss-Prot for MFSD2A Gene

  • Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function. Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain. Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain. Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons. Does not transport docosahexaenoic acid in unesterified fatty acid. Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport. Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation. In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion (PubMed:18988732).

Gene Wiki entry for MFSD2A Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFSD2A Gene

Genomics for MFSD2A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MFSD2A Gene

Start:
39,955,112 bp from pter
End:
39,969,968 bp from pter
Size:
14,857 bases
Orientation:
Plus strand

Genomic View for MFSD2A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MFSD2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFSD2A Gene

No data available for Regulatory Elements for MFSD2A Gene

Proteins for MFSD2A Gene

  • Protein details for MFSD2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NA29-NLS1_HUMAN
    Recommended name:
    Sodium-dependent lysophosphatidylcholine symporter 1
    Protein Accession:
    Q8NA29
    Secondary Accessions:
    • A8K675
    • Q6UWU5
    • Q96F59
    • Q9BRC8

    Protein attributes for MFSD2A Gene

    Size:
    543 amino acids
    Molecular mass:
    60170 Da
    Quaternary structure:
    • Interacts with ERVFRD-1/syncytin-2.

    Alternative splice isoforms for MFSD2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFSD2A Gene

Proteomics data for MFSD2A Gene at MOPED

Post-translational modifications for MFSD2A Gene

Other Protein References for MFSD2A Gene

No data available for DME Specific Peptides for MFSD2A Gene

Domains for MFSD2A Gene

Protein Domains for MFSD2A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFSD2A Gene

Graphical View of Domain Structure for InterPro Entry

Q8NA29

UniProtKB/Swiss-Prot:

NLS1_HUMAN :
  • Q8NA29
Family:
  • Belongs to the major facilitator superfamily.
genes like me logo Genes that share domains with MFSD2A: view

No data available for Gene Families for MFSD2A Gene

Function for MFSD2A Gene

Molecular function for MFSD2A Gene

UniProtKB/Swiss-Prot Function: Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function. Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain. Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain. Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons. Does not transport docosahexaenoic acid in unesterified fatty acid. Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport. Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation. In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion (PubMed:18988732).

Gene Ontology (GO) - Molecular Function for MFSD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005548 phospholipid transporter activity ISS --
GO:0015293 symporter activity ISS --
genes like me logo Genes that share ontologies with MFSD2A: view
genes like me logo Genes that share phenotypes with MFSD2A: view

Animal Models for MFSD2A Gene

MGI Knock Outs for MFSD2A:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for MFSD2A Gene

Localization for MFSD2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFSD2A Gene

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Cytoplasmic punctae that may represent vesicles shuttling between the endoplasmic reticulum and the plasma membrane. {ECO:0000269 PubMed:21677192}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MFSD2A Gene COMPARTMENTS Subcellular localization image for MFSD2A gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MFSD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IDA --
GO:0005887 integral component of plasma membrane ISS --
genes like me logo Genes that share ontologies with MFSD2A: view

Pathways for MFSD2A Gene

SuperPathways for MFSD2A Gene

No Data Available

Interacting Proteins for MFSD2A Gene

Gene Ontology (GO) - Biological Process for MFSD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015908 fatty acid transport ISS --
GO:0015914 phospholipid transport IEA --
GO:0045056 transcytosis ISS --
GO:0055085 transmembrane transport ISS --
GO:0060856 establishment of blood-brain barrier ISS --
genes like me logo Genes that share ontologies with MFSD2A: view

No data available for Pathways by source for MFSD2A Gene

Transcripts for MFSD2A Gene

Unigene Clusters for MFSD2A Gene

Major facilitator superfamily domain containing 2A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MFSD2A

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFSD2A Gene

No ASD Table

Relevant External Links for MFSD2A Gene

GeneLoc Exon Structure for
MFSD2A
ECgene alternative splicing isoforms for
MFSD2A

Expression for MFSD2A Gene

mRNA expression in normal human tissues for MFSD2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MFSD2A Gene

This gene is overexpressed in Liver (13.0), Skin - Not Sun Exposed (Suprapubic) (6.5), and Skin - Sun Exposed (Lower leg) (4.6).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for MFSD2A Gene

SOURCE GeneReport for Unigene cluster for MFSD2A Gene Hs.655177

mRNA Expression by UniProt/SwissProt for MFSD2A Gene

Q8NA29-NLS1_HUMAN
Tissue specificity: In placenta, associated with trophoblast cells.
genes like me logo Genes that share expressions with MFSD2A: view

In Situ Assay Products

Orthologs for MFSD2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for MFSD2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MFSD2A 35
  • 99.45 (n)
  • 99.82 (a)
MFSD2A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MFSD2 36
  • 87 (a)
OneToOne
MFSD2A 35
  • 86.67 (n)
  • 88.22 (a)
dog
(Canis familiaris)
Mammalia MFSD2A 35
  • 88.97 (n)
  • 89.04 (a)
MFSD2A 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfsd2a 35
  • 84.25 (n)
  • 85.26 (a)
Mfsd2a 16
Mfsd2a 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MFSD2A 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFSD2A 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfsd2a 35
  • 84.37 (n)
  • 86.96 (a)
chicken
(Gallus gallus)
Aves MFSD2A 35
  • 74.9 (n)
  • 76.48 (a)
MFSD2A 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFSD2A 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd2a 35
  • 67.32 (n)
  • 71.23 (a)
zebrafish
(Danio rerio)
Actinopterygii mfsd2aa 36
  • 58 (a)
OneToMany
mfsd2ab 35
  • 65.12 (n)
  • 66.09 (a)
mfsd2ab 36
  • 62 (a)
OneToMany
Species with no ortholog for MFSD2A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MFSD2A Gene

ENSEMBL:
Gene Tree for MFSD2A (if available)
TreeFam:
Gene Tree for MFSD2A (if available)

Paralogs for MFSD2A Gene

Paralogs for MFSD2A Gene

Selected SIMAP similar genes for MFSD2A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MFSD2A: view

Variants for MFSD2A Gene

Sequence variations from dbSNP and Humsavar for MFSD2A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs937157 -- 39,957,359(+) TCAGT(G/T)AGCAA intron-variant
rs1492701 -- 39,956,146(+) GTGCC(C/G)CACCC intron-variant
rs1814671 -- 39,956,909(+) agact(C/T)tgttt intron-variant
rs1814672 -- 39,956,913(+) tttgt(C/T)tcaaa intron-variant
rs1982873 -- 39,955,579(+) GCCCC(C/T)CTTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MFSD2A Gene

Variant ID Type Subtype PubMed ID
dgv49e1 CNV Complex 17122850

Relevant External Links for MFSD2A Gene

HapMap Linkage Disequilibrium report
MFSD2A
Human Gene Mutation Database (HGMD)
MFSD2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFSD2A Gene

Disorders for MFSD2A Gene

Relevant External Links for MFSD2A

Human Genome Epidemiology (HuGE) Navigator
MFSD2A
genes like me logo Genes that share disorders with MFSD2A: view

No data available for UniProtKB/Swiss-Prot for MFSD2A Gene

Publications for MFSD2A Gene

  1. Mfsd2a encodes a novel major facilitator superfamily domain- containing protein highly induced in brown adipose tissue during fasting and adaptive thermogenesis. (PMID: 18694395) Angers M. … Jetten A.M. (Biochem. J. 2008) 2 3 4
  2. A placenta-specific receptor for the fusogenic, endogenous retrovirus-derived, human syncytin-2. (PMID: 18988732) Esnault C. … Heidmann T. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  4. A haploid genetic screen identifies the major facilitator domain containing 2A (MFSD2A) transporter as a key mediator in the response to tunicamycin. (PMID: 21677192) Reiling J.H. … Sabatini D.M. (Proc. Natl. Acad. Sci. U.S.A. 2011) 3 4
  5. MFSD2a, the Syncytin-2 receptor, is important for trophoblast fusion. (PMID: 23177091) Toufaily C. … Barbeau B. (Placenta 2013) 3 4

Products for MFSD2A Gene

Sources for MFSD2A Gene

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