Property Summary

NCBI Gene PubMed Count 24
PubMed Score 20.52
PubTator Score 36.53

Knowledge Summary


No data available


  Differential Expression (13)

 GWAS Trait (1)

Gene RIF (12)

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.
17145094 Observational study of gene-disease association. (HuGE Navigator)
17145094 three additional SNPs in the MFSD2 genes showed ethnic differences in allelic frequencies

AA Sequence


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.
20236515 2010 MFSD2A is a novel lung tumor suppressor gene modulating cell cycle and matrix attachment.
18988732 2008 A placenta-specific receptor for the fusogenic, endogenous retrovirus-derived, human syncytin-2.
18694395 2008 Mfsd2a encodes a novel major facilitator superfamily domain-containing protein highly induced in brown adipose tissue during fasting and adaptive thermogenesis.
17145094 2007 Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15221005 2004 Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.