MFSD2A
entrez
84879
canonical
uniprot
Q8NA29
canonical
ensembl
ENSG00000168389
resolver
ensp
ENSP00000361895
resolver
ensp
ENSP00000361898
resolver
ensp
ENSP00000391261
resolver
ensp
ENSP00000527650
resolver
ensp
ENSP00000588841
resolver
enst
ENST00000420632
resolver
genesymbol
MFSD2A
resolver
genesymbol_syn
MFSD2
resolver
genesymbol_syn
NLS1
resolver
hgnc
HGNC:25897
resolver
uniprot
A8K675
resolver
uniprot
B4DNN7
resolver
uniprot
E7EPI8
resolver
uniprot
Q6UWU5
resolver
uniprot
Q71RE4
resolver
uniprot
Q96F59
resolver
uniprot
Q9BRC8
resolver
uniprot_entry
B4DNN7_HUMAN
resolver
uniprot_entry
E7EPI8_HUMAN
resolver
uniprot_entry
NLS1_HUMAN
resolver
uniprot_entry
Q71RE4_HUMAN
resolver
uniprot_sec
A8K675
resolver
uniprot_sec
Q6UWU5
resolver
uniprot_sec
Q96F59
resolver
uniprot_sec
Q9BRC8
resolver
amino_acid_sequence
MAKGEGAESGSAAGLLPTSILQSTERPAQVKKEPKKKKQQLSVCNKLCYALGGAPYQVTGCALGFFLQIYLLDVAQKDEEVVFCFSSFQVGPFSASIILFVGRAWDAITDPLVGLCISKSPWTCLGRLMPWIIFSTPLAVIAYFLIWFVPDFPHGQTYWYLLFYCLFETMVTCFHVPYSALTMFISTEQTERDSATAYRMTVEVLGTVLGTAIQGQIVGQADTPCFQDLNSSTVASQSANHTHGTTSHRETQKAYLLAAGVIVCIYIICAVILILGVREQREPYEAQQSEPIAYFRGLRLVMSHGPYIKLITGFLFTSLAFMLVEGNFVLFCTYTLGFRNEFQNLLLAIMLSATLTIPIWQWFLTRFGKKTAVYVGISSAVPFLILVALMESNLIITYAVAVAAGISVAAAFLLPWSMLPDVIDDFHLKQPHFHGTEPIFFSFYVFFTKFASGVSLGISTLSLDFAGYQTRGCSQPERVKFTLNMLVTMAPIVLILLGLLLFKMYPIDEERRRQNKKALQALRDEASSSGCSETDSTELASIL
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) [MIM:616486]: An autosomal recessive disorder characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death. {ECO:0000269|PubMed:26005865, ECO:0000269|PubMed:26005868, ECO:0000269|PubMed:32572202, ECO:0000269|PubMed:33186761}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (PubMed:24828040, PubMed:32572202, PubMed:34135507). Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain (By similarity). 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 (PubMed:26005868, PubMed:34135507). Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons (By similarity). Does not transport docosahexaenoic acid in unesterified fatty acid (By similarity). Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport (By similarity). Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation (PubMed:21677192). In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion (PubMed:18988732, PubMed:23177091). {ECO:0000250|UniProtKB:Q9DA75, ECO:0000269|PubMed:18988732, ECO:0000269|PubMed:21677192, ECO:0000269|PubMed:23177091, ECO:0000269|PubMed:24828040, ECO:0000269|PubMed:26005868, ECO:0000269|PubMed:34135507}.
uniprot
proteins
mass_dalton
60170
uniprot
proteins
mutagenesis
MUTAGEN 57; /note="Q->E: Does not affect lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 57; /note="Q->L: Abolished lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 65; /note="F->A: Abolished lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 66; /note="F->A: Abolished lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 73; /note="D->A: Abolished lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 103; /note="R->A,K,E: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 103; /note="R->A: No effect on cell sensitivity toward tunicamycin."; /evidence="ECO:0000269|PubMed:21677192"; MUTAGEN 106; /note="D->A: No effect on cell sensitivity toward tunicamycin."; /evidence="ECO:0000269|PubMed:21677192"; MUTAGEN 110; /note="D->A: Drastic loss of cell sensitivity toward tunicamycin. Abolished lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:21677192, ECO:0000269|PubMed:34135507"; MUTAGEN 177; /note="P->T: Reduced expression; no effect on cell membrane localization; decreased LPC transport activity."; /evidence="ECO:0000269|PubMed:32572202"; MUTAGEN 200; /note="M->F: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 225; /note="C->A: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 230; /note="N->Q: Loss of glycosylation; when associated with Q-240."; /evidence="ECO:0000269|PubMed:21677192"; MUTAGEN 240; /note="N->Q: Loss of glycosylation; when associated with Q-230."; /evidence="ECO:0000269|PubMed:21677192"; MUTAGEN 325; /note="E->A,D,Q,R: Abolished lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 328; /note="F->A,Y: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 334; /note="Y->A: Does not affect lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 339; /note="R->A: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 342; /note="F->A: Abolished lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 346; /note="L->A: Abolished lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 349; /note="I->A: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 350; /note="M->A: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 357; /note="I->A: Does not affect lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 357; /note="I->W: Abolished lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 361; /note="Q->W: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 404; /note="A->W: Abolished lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 412; /note="F->I,W: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 416; /note="W->A,F: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 449; /note="K->A,R,Q: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 449; /note="K->A: Loss of plasma membrane localization. Loss of cell sensitivity toward tunicamycin."; /evidence="ECO:0000269|PubMed:21677192"; MUTAGEN 468; /note="Y->A: Abolished lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507"; MUTAGEN 473; /note="C->A: Reduced lysophosphatidylcholine (LPC) transport."; /evidence="ECO:0000269|PubMed:34135507
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15221005
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18694395
uniprot
proteins
pubmed
18988732
uniprot
proteins
pubmed
21677192
uniprot
proteins
pubmed
23177091
uniprot
proteins
pubmed
24828040
uniprot
proteins
pubmed
26005865
uniprot
proteins
pubmed
26005868
uniprot
proteins
pubmed
32572202
uniprot
proteins
pubmed
33186761
uniprot
proteins
pubmed
34135507
uniprot
proteins
sequence_length
543
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26005868, ECO:0000269|PubMed:32572202}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9DA75}; Multi-pass membrane protein {ECO:0000255}. Note=Cytoplasmic punctae that may represent vesicles shuttling between the endoplasmic reticulum and the plasma membrane (PubMed:21677192). {ECO:0000269|PubMed:21677192}.
uniprot
proteins
transmembrane_region
TRANSMEM 41..70; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75"; TRANSMEM 95..115; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75"; TRANSMEM 128..147; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75"; TRANSMEM 158..182; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75"; TRANSMEM 190..221; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75"; TRANSMEM 242..275; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75"; TRANSMEM 307..333; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75"; TRANSMEM 345..363; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75"; TRANSMEM 368..389; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75"; TRANSMEM 393..429; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75"; TRANSMEM 440..466; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75"; TRANSMEM 479..502; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9DA75
uniprot
proteins