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Aliases for MFSD2A Gene

Aliases for MFSD2A Gene

  • Major Facilitator Superfamily Domain Containing 2A 2 3 5
  • 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
  • MCPH15 3

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. Diseases associated with MFSD2A include Microcephaly 15, Primary, Autosomal Recessive and Autosomal Recessive Primary Microcephaly. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include symporter activity and phospholipid transporter activity. 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

Regulatory Elements for MFSD2A Gene

Enhancers for MFSD2A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F039959 1.3 FANTOM5 Ensembl ENCODE 7.8 +5.5 5477 1.6 HDGF CTCF MXI1 MAX ZIC2 YY1 ZNF121 POLR2A NFYB HNF4G MYCL CAP1 ENSG00000202222 TRIT1 LOC105378668 MFSD2A RPS2P12
GH01F039951 0.9 Ensembl ENCODE 6.4 -2.5 -2512 1.6 SOX13 SOX5 ZNF664 ZNF316 NFIA HLF CEBPB EMSY MYCL TRIT1 CAP1 ENSG00000202222 MFSD2A GC01P039946
GH01F039940 1 Ensembl ENCODE 5.2 -14.4 -14412 1.4 MAX OVOL3 FEZF1 ZNF843 OSR2 JUND GATA2 BCL11A GLIS1 PATZ1 MYCL TRIT1 ENSG00000202222 CAP1 LOC105378668 MFSD2A ENSG00000207356 GC01M039946 GC01M039906
GH01F039946 0.6 ENCODE 7.1 -7.7 -7693 1.7 ATF3 HNF4G CEBPB CEBPG RAD21 YY1 TRIT1 MYCL ENSG00000202222 CAP1 LOC105378668 MFSD2A GC01P039946
GH01F039942 0.9 Ensembl ENCODE 4.7 -11.2 -11221 1.8 MAFG JUNB ZNF316 NFE2L1 HMBOX1 TCF7 NFE2 EMSY TRIT1 MYCL ENSG00000202222 CAP1 LOC105378668 ENSG00000182109 MFSD2A ENSG00000207356 GC01M039946 GC01M039906
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MFSD2A on UCSC Golden Path with GeneCards custom track

Promoters for MFSD2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001519419 488 2001 ATF1 MLX ZFP64 SIN3A ARID4B FEZF1 DMAP1 GLI4 ZNF2 ZNF48

Genomic Location for MFSD2A Gene

Chromosome:
1
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

Genes around MFSD2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFSD2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFSD2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for MFSD2A Gene

No data available for DME Specific Peptides for MFSD2A Gene

Domains & Families 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 :
  • Belongs to the major facilitator superfamily.
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:0015245 fatty acid transporter activity ISS 24828044
GO:0015293 symporter activity ISS --
GO:0051978 lysophospholipid transporter activity IDA 24828044
genes like me logo Genes that share ontologies with MFSD2A: view
genes like me logo Genes that share phenotypes with MFSD2A: view

Human Phenotype Ontology for MFSD2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MFSD2A Gene

MGI Knock Outs for MFSD2A:

Animal Model Products

  • Taconic Biosciences Mouse Models for MFSD2A

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 (PubMed:21677192). {ECO:0000269 PubMed:21677192}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFSD2A gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
cytosol 2
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 IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IDA --
GO:0005887 integral component of plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with MFSD2A: view

Pathways & Interactions for MFSD2A Gene

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

Interacting Proteins for MFSD2A Gene

Selected Interacting proteins: Q8NA29-NLS1_HUMAN for MFSD2A Gene via IID

Symbol External ID(s) Details
MYCL

Gene Ontology (GO) - Biological Process for MFSD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0015908 fatty acid transport IEA,ISS --
GO:0021766 hippocampus development ISS 24828044
GO:0045056 transcytosis IEA,ISS --
genes like me logo Genes that share ontologies with MFSD2A: view

No data available for SIGNOR curated interactions for MFSD2A Gene

Transcripts for MFSD2A Gene

Unigene Clusters for MFSD2A Gene

Major facilitator superfamily domain containing 2A:
Representative Sequences:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and SAGE 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 (x13.0), Skin - Not Sun Exposed (Suprapubic) (x6.5), and Skin - Sun Exposed (Lower leg) (x4.6).

Protein differential expression in normal tissues from HIPED for MFSD2A Gene

This gene is overexpressed in Placenta (52.2) and Liver (16.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MFSD2A Gene



Protein tissue co-expression partners for MFSD2A Gene

NURSA nuclear receptor signaling pathways regulating expression of MFSD2A Gene:

MFSD2A

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 expression patterns with MFSD2A: view

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 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia MFSD2A 34 35
  • 88.97 (n)
cow
(Bos Taurus)
Mammalia MFSD2 35
  • 87 (a)
OneToOne
MFSD2A 34
  • 86.67 (n)
rat
(Rattus norvegicus)
Mammalia Mfsd2a 34
  • 84.37 (n)
mouse
(Mus musculus)
Mammalia Mfsd2a 34 16 35
  • 84.25 (n)
oppossum
(Monodelphis domestica)
Mammalia MFSD2A 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFSD2A 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFSD2A 34 35
  • 74.9 (n)
lizard
(Anolis carolinensis)
Reptilia MFSD2A 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd2a 34
  • 67.32 (n)
zebrafish
(Danio rerio)
Actinopterygii mfsd2ab 34 35
  • 65.12 (n)
mfsd2aa 35
  • 58 (a)
OneToMany
Species where no ortholog for MFSD2A was found in the sources mined by GeneCards:
  • 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

(1) 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
VAR_074624 Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]
VAR_074625 Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]
VAR_074626 Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]
rs111567810 -- 39,964,394(+) TTCCC(A/G)AGACT intron-variant
rs111742884 -- 39,961,896(+) CCATG(A/G)GGAGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv945896 CNV duplication 23825009
esv2758933 CNV loss 17122850

Variation tolerance for MFSD2A Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 35.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFSD2A Gene

Human Gene Mutation Database (HGMD)
MFSD2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFSD2A

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

Disorders for MFSD2A Gene

MalaCards: The human disease database

(3) MalaCards diseases for MFSD2A Gene - From: OMIM, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NLS1_HUMAN
  • Microcephaly 15, primary, autosomal recessive (MCPH15) [MIM:616486]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO:0000269 PubMed:26005865, ECO:0000269 PubMed:26005868}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MFSD2A

Human Genome Epidemiology (HuGE) Navigator
MFSD2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFSD2A
genes like me logo Genes that share disorders with MFSD2A: view

No data available for Genatlas 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 64
  2. A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. (PMID: 26005865) Alakbarzade V. … Crosby A.H. (Nat. Genet. 2015) 3 4 64
  3. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. (PMID: 26005868) Guemez-Gamboa A. … Gleeson J.G. (Nat. Genet. 2015) 3 4 64
  4. Mfsd2a is critical for the formation and function of the blood-brain barrier. (PMID: 24828040) Ben-Zvi A. … Gu C. (Nature 2014) 2 3 64
  5. Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid. (PMID: 24828044) Nguyen L.N. … Silver D.L. (Nature 2014) 2 3 64

Products for MFSD2A Gene

Sources for MFSD2A Gene

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