Protein name: MFSD2A Aliases: MFSD2 Substrates: LPC (lysophosphatidylcholine) form of DHA (docosahexaenoic acid) [PMID: 24828044] Transport type: Cotransporter / LPC:Na+, uptake [PMID: 24828044] Tissue and cellular expression: Brain, intestine, kidney, liver, lung, mammary gland, prostate [PMID: 18694395]. Relative low expression in BAT (brown adipose tissue), but upregulated during cold-induced thermogenesis [PMID: 18694395]. Subcellular expression: Endoplasmic reticulum (ER) [PMID: 18694395] Disease: Progressive microcephaly syndrome [PMID: 26005865]. Physiologically, might play a role in blood-brain barrier (BBB) drug delivery [PMID: 24828040] [PMID: 26747400], and is the syncytin-2 receptor [PMID: 23177091] Locus: 1p34.2 Sequence ID: NP_001129965.1, NM_001136493.2 NP_001274737.1, NM_001287808.1 NP_001274738.1, NM_001287809.1 NP_116182.2, NM_032793.4 Gene ID: 84879 Splice variants: N/D

NLS1_HUMAN (UniProt)

Gene names: MFSD2A, MFSD2, NLS1, HMFN0656, PP9177, UNQ300/PRO341
Protein names and data: NLS1_HUMAN, Full=Sodium-dependent lysophosphatidylcholine symporter 1; Short=NLS1; Short=Sodium-dependent LPC symporter 1, Full=Major facilitator superfamily domain-containing protein 2A Length: 543 a.a., Mass: 60170 Da,
fasta formatted sequence

Database cross-references

UniProt: Q8NA29
OMIM: 614397 616486
Ensembl: ENST00000372809
GeneCard: MFSD2A
TCDB: 2.A.2.3.8
HGNC: HGNC:25897

Genetic variants

See also Ensembl:ENST00000372809