Seroatlas · Human Serome Atlas

MFSD2A

Sodium-dependent lysophosphatidylcholine symporter 1

Also known as: FLJ14490, MFSD2, NLS1_HUMAN, SLC59A1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8NA29
Gene
MFSD2A
Ensembl
ENSG00000168389
Chromosome
1
Canonical length
543 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane,Cytosol,Cytoplasmic bodies

OverviewNCBI Gene

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 this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

543 residues, UniProt reviewed canonical sequence.

>Q8NA29|MFSD2A
     1  MAKGEGAESG SAAGLLPTSI LQSTERPAQV KKEPKKKKQQ LSVCNKLCYA LGGAPYQVTG
    61  CALGFFLQIY LLDVAQKDEE VVFCFSSFQV GPFSASIILF VGRAWDAITD PLVGLCISKS
   121  PWTCLGRLMP WIIFSTPLAV IAYFLIWFVP DFPHGQTYWY LLFYCLFETM VTCFHVPYSA
   181  LTMFISTEQT ERDSATAYRM TVEVLGTVLG TAIQGQIVGQ ADTPCFQDLN SSTVASQSAN
   241  HTHGTTSHRE TQKAYLLAAG VIVCIYIICA VILILGVREQ REPYEAQQSE PIAYFRGLRL
   301  VMSHGPYIKL ITGFLFTSLA FMLVEGNFVL FCTYTLGFRN EFQNLLLAIM LSATLTIPIW
   361  QWFLTRFGKK TAVYVGISSA VPFLILVALM ESNLIITYAV AVAAGISVAA AFLLPWSMLP
   421  DVIDDFHLKQ PHFHGTEPIF FSFYVFFTKF ASGVSLGIST LSLDFAGYQT RGCSQPERVK
   481  FTLNMLVTMA PIVLILLGLL LFKMYPIDEE RRRQNKKALQ ALRDEASSSG CSETDSTELA
   541  SIL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MFSD2A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
12
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
154 nTPM

Expression across tissuesHPA

Tissue

  • liver: 154 nTPM
  • epididymis: 92 nTPM
  • skin: 85 nTPM
  • seminal vesicle: 75 nTPM
  • lung: 34 nTPM
  • testis: 32 nTPM

Single-cell type

  • hepatocytes: 354 nCPM
  • alveolar cells type 2: 353 nCPM
  • enterocytes: 346 nCPM
  • epididymal principal cells: 323 nCPM
  • epididymal efferent duct absorptive cells: 262 nCPM
  • sertoli cells: 103 nCPM

Immune cell

  • plasmacytoid DC: 24 nTPM
  • myeloid DC: 15 nTPM
  • classical monocyte: 13 nTPM
  • intermediate monocyte: 6.6 nTPM
  • total PBMC: 3.6 nTPM
  • memory B-cell: 1.5 nTPM

Brain region

  • pons: 41 nTPM
  • medulla oblongata: 40 nTPM
  • thalamus: 39 nTPM
  • cerebellum: 33 nTPM
  • amygdala: 31 nTPM
  • midbrain: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MFSD2A.

Disease | AllUniProt

Conditions MFSD2A is implicated in, by any mechanism.

  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) MIM:616486

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 223 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.54
gnomAD pLI
0.01
gnomAD missense Z
2.04
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MFSD2A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MFSD2A as an antibody target. Whether an autoantibody or antibody against MFSD2A could matter depends on whether native MFSD2A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MFSD2A is annotated at the cell surface, where native MFSD2A is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label MFSD2A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MFSD2A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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