Seroatlas · Human Serome Atlas

MFSD8

Major facilitator superfamily domain-containing protein 8

Also known as: CLN7, MFSD8_HUMAN, MGC33302

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

Protein identityUniProt · HPA

UniProt accession
Q8NHS3
Gene
MFSD8
Ensembl
ENSG00000164073
Chromosome
4
Canonical length
518 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Nucleoplasm,Vesicles

OverviewNCBI Gene

This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

518 residues, UniProt reviewed canonical sequence.

>Q8NHS3|MFSD8
     1  MAGLRNESEQ EPLLGDTPGS REWDILETEE HYKSRWRSIR ILYLTMFLSS VGFSVVMMSI
    61  WPYLQKIDPT ADTSFLGWVI ASYSLGQMVA SPIFGLWSNY RPRKEPLIVS ILISVAANCL
   121  YAYLHIPASH NKYYMLVARG LLGIGAGNVA VVRSYTAGAT SLQERTSSMA NISMCQALGF
   181  ILGPVFQTCF TFLGEKGVTW DVIKLQINMY TTPVLLSAFL GILNIILILA ILREHRVDDS
   241  GRQCKSINFE EASTDEAQVP QGNIDQVAVV AINVLFFVTL FIFALFETII TPLTMDMYAW
   301  TQEQAVLYNG IILAALGVEA VVIFLGVKLL SKKIGERAIL LGGLIVVWVG FFILLPWGNQ
   361  FPKIQWEDLH NNSIPNTTFG EIIIGLWKSP MEDDNERPTG CSIEQAWCLY TPVIHLAQFL
   421  TSAVLIGLGY PVCNLMSYTL YSKILGPKPQ GVYMGWLTAS GSGARILGPM FISQVYAHWG
   481  PRWAFSLVCG IIVLTITLLG VVYKRLIALS VRYGRIQE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MFSD8 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
12
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
9.4 nTPM

Expression across tissuesHPA

Tissue

  • duodenum: 9.4 nTPM
  • liver: 9.3 nTPM
  • parathyroid gland: 8.5 nTPM
  • rectum: 7.6 nTPM
  • tonsil: 7.4 nTPM
  • small intestine: 7.2 nTPM

Single-cell type

  • cardiomyocytes: 503 nCPM
  • myonuclei: 96 nCPM
  • sertoli cells: 74 nCPM
  • lactotrophs: 73 nCPM
  • rod photoreceptor cells: 72 nCPM
  • thymocytes: 69 nCPM

Immune cell

  • non-classical monocyte: 3.8 nTPM
  • T-reg: 3.4 nTPM
  • eosinophil: 2.8 nTPM
  • memory CD4 T-cell: 2.7 nTPM
  • naive CD8 T-cell: 2.7 nTPM
  • neutrophil: 2.6 nTPM

Brain region

  • white matter: 5.4 nTPM
  • cerebellum: 5 nTPM
  • hypothalamus: 4.6 nTPM
  • pons: 4.1 nTPM
  • cerebral cortex: 4 nTPM
  • medulla oblongata: 3.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MFSD8.

Disease | AllUniProt

Conditions MFSD8 is implicated in, by any mechanism.

  • Ceroid lipofuscinosis, neuronal, 7 (CLN7) MIM:610951
  • Macular dystrophy with central cone involvement (CCMD) MIM:616170

Disease | GeneticClinVar

158 pathogenic / likely-pathogenic of 1,027 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)
1.07
gnomAD pLI
0
gnomAD missense Z
0.11
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 MFSD8 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 MFSD8 as an antibody target. Whether an autoantibody or antibody against MFSD8 could matter depends on whether native MFSD8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MFSD8 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 MFSD8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MFSD8. 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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