• Gene id: 84879

Gene Summary

• Gene Symbol: MFSD2A   Gene   UCSC   Ensembl
• Aliases: MCPH15, MFSD2, NLS1
• Gene name: major facilitator superfamily domain containing 2A
• Alternate names: sodium-dependent lysophosphatidylcholine symporter 1, major facilitator superfamily domain-containing protein 2A, sodium-dependent LPC symporter 1,
• Gene location: 1p34.2 (39955111: 39969967)     Exons: 14     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in
• OMIM: 614397

Protein Summary

• Protein general information: Q8NA29  
  • Name: Sodium dependent lysophosphatidylcholine symporter 1 (NLS1) (Sodium dependent LPC symporter 1) (Major facilitator superfamily domain containing protein 2A)
  • Length: 543  
  • Mass: 60170
  • Tissue specificity: In placenta, associated with trophoblast cells. {ECO
• Sequence:

  MAKGEGAESGSAAGLLPTSILQSTERPAQVKKEPKKKKQQLSVCNKLCYALGGAPYQVTGCALGFFLQIYLLDVA
  QKDEEVVFCFSSFQVGPFSASIILFVGRAWDAITDPLVGLCISKSPWTCLGRLMPWIIFSTPLAVIAYFLIWFVP
  DFPHGQTYWYLLFYCLFETMVTCFHVPYSALTMFISTEQTERDSATAYRMTVEVLGTVLGTAIQGQIVGQADTPC
  FQDLNSSTVASQSANHTHGTTSHRETQKAYLLAAGVIVCIYIICAVILILGVREQREPYEAQQSEPIAYFRGLRL
  VMSHGPYIKLITGFLFTSLAFMLVEGNFVLFCTYTLGFRNEFQNLLLAIMLSATLTIPIWQWFLTRFGKKTAVYV
  GISSAVPFLILVALMESNLIITYAVAVAAGISVAAAFLLPWSMLPDVIDDFHLKQPHFHGTEPIFFSFYVFFTKF
  ASGVSLGISTLSLDFAGYQTRGCSQPERVKFTLNMLVTMAPIVLILLGLLLFKMYPIDEERRRQNKKALQALRDE
  ASSSGCSETDSTELASIL

• Structural information:
  • Interpro: IPR039672  IPR036259  
  • DIP: 47306
  • STRING: ENSP00000361895
• Other Databases: GeneCards:  MFSD2A  Malacards:  MFSD2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:1901480	oleate transmembrane transporter activity	IMP	molecular function
GO:0005324	long-chain fatty acid transporter activity	IMP	molecular function
GO:0005324	long-chain fatty acid transporter activity	ISS	molecular function
GO:1990403	embryonic brain development	ISS	NOT|biological process
GO:1990963	establishment of blood-retinal barrier	ISS	NOT|biological process
GO:0003406	retinal pigment epithelium development	ISS	biological process
GO:0008594	photoreceptor cell morphogenesis	ISS	biological process
GO:0140329	lysophospholipid translocation	IMP	biological process
GO:0150178	regulation of phosphatidylserine metabolic process	ISS	biological process
GO:0061744	motor behavior	ISS	biological process
GO:1990379	lipid transport across blood-brain barrier	IMP	biological process
GO:0007420	brain development	ISS	biological process
GO:0007420	brain development	IMP	biological process
GO:0007420	brain development	IMP	biological process
GO:0009267	cellular response to starvation	ISS	biological process
GO:0035845	photoreceptor cell outer segment organization	ISS	biological process
GO:0150172	regulation of phosphatidylcholine metabolic process	IMP	biological process
GO:0150172	regulation of phosphatidylcholine metabolic process	ISS	biological process
GO:0150011	regulation of neuron projection arborization	ISS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0035633	maintenance of blood-brain barrier	ISS	biological process
GO:0035633	maintenance of blood-brain barrier	ISS	biological process
GO:0040014	regulation of multicellular organism growth	ISS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150175	regulation of phosphatidylethanolamine metabolic process	ISS	biological process
GO:0015908	fatty acid transport	IMP	biological process
GO:0050773	regulation of dendrite development	ISS	biological process
GO:0005887	integral component of plasma membrane	RCA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0010867	positive regulation of triglyceride biosynthetic process	ISS	biological process
GO:0015909	long-chain fatty acid transport	ISS	biological process
GO:0045872	positive regulation of rhodopsin gene expression	ISS	biological process
GO:0051977	lysophospholipid transport	IMP	biological process
GO:0050890	cognition	IMP	biological process
GO:0060042	retina morphogenesis in camera-type eye	ISS	biological process
GO:0060856	establishment of blood-brain barrier	ISS	NOT|biological process
GO:0030307	positive regulation of cell growth	ISS	biological process
GO:0031999	negative regulation of fatty acid beta-oxidation	ISS	biological process
GO:0034379	very-low-density lipoprotein particle assembly	ISS	biological process
GO:0097009	energy homeostasis	ISS	biological process
GO:0051978	lysophospholipid:sodium symporter activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0071702	organic substance transport	IBA	biological process
GO:0045056	transcytosis	ISS	biological process
GO:0015908	fatty acid transport	ISS	biological process
GO:1990379	lipid transport across blood-brain barrier	ISS	biological process
GO:0060856	establishment of blood-brain barrier	ISS	biological process
GO:0015293	symporter activity	ISS	molecular function
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0008643	carbohydrate transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005548	phospholipid transporter activity	TAS	molecular function
GO:0006656	phosphatidylcholine biosynthetic process	TAS	biological process
GO:0050773	regulation of dendrite development	IEA	biological process
GO:0045056	transcytosis	IEA	biological process
GO:0040014	regulation of multicellular organism growth	IEA	biological process
GO:0035845	photoreceptor cell outer segment organization	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0015908	fatty acid transport	IEA	biological process
GO:0008594	photoreceptor cell morphogenesis	IEA	biological process
GO:0003406	retinal pigment epithelium development	IEA	biological process
GO:0150178	regulation of phosphatidylserine metabolic process	IEA	biological process
GO:0051978	lysophospholipid:sodium symporter activity	IEA	molecular function
GO:0045872	positive regulation of rhodopsin gene expression	IEA	biological process
GO:0034379	very-low-density lipoprotein particle assembly	IEA	biological process
GO:0031999	negative regulation of fatty acid beta-oxidation	IEA	biological process
GO:0030307	positive regulation of cell growth	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0015245	fatty acid transmembrane transporter activity	IEA	molecular function
GO:0010867	positive regulation of triglyceride biosynthetic process	IEA	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1990379	lipid transport across blood-brain barrier	IEA	biological process
GO:0150175	regulation of phosphatidylethanolamine metabolic process	IEA	biological process
GO:0150172	regulation of phosphatidylcholine metabolic process	IEA	biological process
GO:0150011	regulation of neuron projection arborization	IEA	biological process
GO:0140348	lysophosphatidylcholine flippase activity	IEA	molecular function
GO:0097009	energy homeostasis	IEA	biological process
GO:0061744	motor behavior	IEA	biological process
GO:0060042	retina morphogenesis in camera-type eye	IEA	biological process
GO:0051977	lysophospholipid transport	IEA	biological process
GO:0051978	lysophospholipid:sodium symporter activity	IDA	molecular function
GO:0015245	fatty acid transmembrane transporter activity	ISS	molecular function
GO:0021766	hippocampus development	ISS	biological process
GO:0051977	lysophospholipid transport	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Primary microcephaly	KEGG:H00269
Primary microcephaly	KEGG:H00269
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881