Seroatlas · Human Serome Atlas

MFSD12

Major facilitator superfamily domain-containing protein 12

Also known as: C19orf28, MFS12_HUMAN, MGC20700, PP3501

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

Protein identityUniProt · HPA

UniProt accession
Q6NUT3
Gene
MFSD12
Ensembl
ENSG00000161091
Chromosome
19
Canonical length
480 aa
Protein class
Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Enables cysteine transmembrane transporter activity. Involved in cysteine transmembrane transport; pigment metabolic process involved in pigmentation; and regulation of melanin biosynthetic process. Located in lysosome and melanosome. Part of late endosome. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

480 residues, UniProt reviewed canonical sequence.

>Q6NUT3|MFSD12
     1  MGPGPPAAGA APSPRPLSLV ARLSYAVGHF LNDLCASMWF TYLLLYLHSV RAYSSRGAGL
    61  LLLLGQVADG LCTPLVGYEA DRAASCCARY GPRKAWHLVG TVCVLLSFPF IFSPCLGCGA
   121  ATPEWAALLY YGPFIVIFQF GWASTQISHL SLIPELVTND HEKVELTALR YAFTVVANIT
   181  VYGAAWLLLH LQGSSRVEPT QDISISDQLG GQDVPVFRNL SLLVVGVGAV FSLLFHLGTR
   241  ERRRPHAEEP GEHTPLLAPA TAQPLLLWKH WLREPAFYQV GILYMTTRLI VNLSQTYMAM
   301  YLTYSLHLPK KFIATIPLVM YLSGFLSSFL MKPINKCIGR NMTYFSGLLV ILAFAAWVAL
   361  AEGLGVAVYA AAVLLGAGCA TILVTSLAMT ADLIGPHTNS GAFVYGSMSF LDKVANGLAV
   421  MAIQSLHPCP SELCCRACVS FYHWAMVAVT GGVGVAAALC LCSLLLWPTR LRRWDRDARP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MFSD12 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
Other membrane
Secreted
No
Transmembrane segments
11
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
49 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 49 nTPM
  • skin: 41 nTPM
  • hippocampal formation: 40 nTPM
  • pancreas: 34 nTPM
  • spinal cord: 34 nTPM
  • spleen: 32 nTPM

Single-cell type

  • melanocytes: 314 nCPM
  • extravillous trophoblasts: 215 nCPM
  • syncytiotrophoblasts: 154 nCPM
  • early spermatids: 147 nCPM
  • pdcs: 116 nCPM
  • migrating cytotrophoblasts: 71 nCPM

Immune cell

  • plasmacytoid DC: 12 nTPM
  • intermediate monocyte: 7.7 nTPM
  • non-classical monocyte: 7.6 nTPM
  • classical monocyte: 3.6 nTPM
  • memory CD4 T-cell: 2.8 nTPM
  • myeloid DC: 2.7 nTPM

Brain region

  • white matter: 138 nTPM
  • hippocampal formation: 113 nTPM
  • thalamus: 90 nTPM
  • medulla oblongata: 89 nTPM
  • cerebral cortex: 89 nTPM
  • pons: 87 nTPM

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)
1.42
gnomAD pLI
0
gnomAD missense Z
-2.74
DepMap mean gene effect
0.11
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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MFSD12 as an antibody target. Whether an autoantibody or antibody against MFSD12 could matter depends on whether native MFSD12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MFSD12 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MFSD12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MFSD12. 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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