Property Summary

NCBI Gene PubMed Count 24
Grant Count 2
Funding $35,008
PubMed Score 20.52
PubTator Score 36.53

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q8NA29 A8K675 Q6UWU5 Q96F59 Q9BRC8 NLS1
Symbols NLS1
MFSD2
MCPH15

Gene

 Grant Application (2)

 GWAS Trait (1)

Gene RIF (12)

PMID Text
26945070 MFSD2A transported structurally related acylcarnitines but not a lysolipid without a negative charge, demonstrating the necessity of a negatively charged headgroup interaction with Lys-436 for transport.
26005868 MFSD2A mutations impair brain lipid transport activity.
26005865 A homozygous mutation affecting a highly conserved MFSD2A residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech.
23349019 Several tagging SNPs and haplotypes in TRIT1, MYCL1 and MFSD2A region are significantly associated with risk and clinicopathological features of gastric cancer in a Chinese population.
23177091 Importance of MFSD2a in trophoblast fusion and placenta development.
21736709 SNP rs12072037 modulates MFSD2A promoter activity and thus might affect MFSD2A levels in normal lung and in lung tumors.
21677192 MFSD2A is a putative Tunicamycin transporter at the plasma membrane.
20236515 MFSD2A is a novel lung cancer tumor suppressor gene that regulates cell cycle progression and matrix attachment.
18988732 MFSD2 is a placenta-specific receptor for the fusogenic, endogenous retrovirus-derived, human syncytin-2, and plays a role in placenta morphogenesis.
18694395 Results identify Mfsd2a (major facilitator superfamily domain-containing protein 2a) and an additional closely related protein Mfsd2b, and suggest that Mfsd2a plays a role in adaptive thermogenesis.
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AA Sequence

MAKGEGAESGSAAGLLPTSILQSTERPAQVKKEPKKKKQQLSVCNKLCYALGGAPYQVTGCALGFFLQIY      1 - 70
LLDVAQKDEEVVFCFSSFQVGPFSASIILFVGRAWDAITDPLVGLCISKSPWTCLGRLMPWIIFSTPLAV     71 - 140
IAYFLIWFVPDFPHGQTYWYLLFYCLFETMVTCFHVPYSALTMFISTEQTERDSATAYRMTVEVLGTVLG    141 - 210
TAIQGQIVGQADTPCFQDLNSSTVASQSANHTHGTTSHRETQKAYLLAAGVIVCIYIICAVILILGVREQ    211 - 280
REPYEAQQSEPIAYFRGLRLVMSHGPYIKLITGFLFTSLAFMLVEGNFVLFCTYTLGFRNEFQNLLLAIM    281 - 350
LSATLTIPIWQWFLTRFGKKTAVYVGISSAVPFLILVALMESNLIITYAVAVAAGISVAAAFLLPWSMLP    351 - 420
DVIDDFHLKQPHFHGTEPIFFSFYVFFTKFASGVSLGISTLSLDFAGYQTRGCSQPERVKFTLNMLVTMA    421 - 490
PIVLILLGLLLFKMYPIDEERRRQNKKALQALRDEASSSGCSETDSTELASIL                     491 - 543
//

Text Mined References (24)

PMID Year Title
26945070 2016 Structural Insights into the Transport Mechanism of the Human Sodium-dependent Lysophosphatidylcholine Transporter MFSD2A.
26005868 2015 Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
26005865 2015 A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
24828044 2014 Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid.
24828040 2014 Mfsd2a is critical for the formation and function of the blood-brain barrier.
23534349 2013 Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
23349019 2013 Association of polymorphisms and haplotype in the region of TRIT1, MYCL1 and MFSD2A with the risk and clinicopathological features of gastric cancer in a southeast Chinese population.
23177091 2013 MFSD2a, the Syncytin-2 receptor, is important for trophoblast fusion.
21736709 2011 A 5'-region polymorphism modulates promoter activity of the tumor suppressor gene MFSD2A.
21677192 2011 A haploid genetic screen identifies the major facilitator domain containing 2A (MFSD2A) transporter as a key mediator in the response to tunicamycin.
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