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Aliases for MFSD8 Gene

Aliases for MFSD8 Gene

  • Major Facilitator Superfamily Domain Containing 8 2 3 5
  • CLN7 3 4
  • Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile, Variant 2
  • Major Facilitator Superfamily Domain-Containing Protein 8 3
  • Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile 3
  • Ceroid-Lipofuscinosis Neuronal Protein 7 4
  • CCMD 3

External Ids for MFSD8 Gene

Previous HGNC Symbols for MFSD8 Gene

  • CLN7

Previous GeneCards Identifiers for MFSD8 Gene

  • GC04M129061
  • GC04M128838
  • GC04M124567

Summaries for MFSD8 Gene

Entrez Gene Summary for MFSD8 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]

GeneCards Summary for MFSD8 Gene

MFSD8 (Major Facilitator Superfamily Domain Containing 8) is a Protein Coding gene. Diseases associated with MFSD8 include Ceroid Lipofuscinosis, Neuronal, 7 and Macular Dystrophy With Central Cone Involvement. Among its related pathways are Lysosome. GO annotations related to this gene include transmembrane transporter activity.

UniProtKB/Swiss-Prot for MFSD8 Gene

  • May be a carrier that transport small solutes by using chemiosmotic ion gradients.

Gene Wiki entry for MFSD8 Gene

Additional gene information for MFSD8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFSD8 Gene

Genomics for MFSD8 Gene

Regulatory Elements for MFSD8 Gene

Enhancers for MFSD8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H128551 1.4 ENCODE dbSUPER 55.1 -587.4 -587406 3 PKNOX1 FOXA2 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF416 FOS MFSD8 PGRMC2 RPL21P53 ABHD18 INTU JADE1 LOC101927259 C4orf33 GC04P128333
GH04H128349 1.3 ENCODE dbSUPER 33.7 -384.0 -383998 1.2 PKNOX1 FOXA2 ATF1 BRCA1 YY1 GATA2 FOS ATF7 SP5 YY2 MFSD8 LOC100507487 GC04P128333 LOC101927259
GH04H128467 1.4 FANTOM5 Ensembl ENCODE 15.3 -502.5 -502503 1.5 HDAC1 PKNOX1 IRF2 BACH1 ZNF175 CEBPG ZNF766 ZNF316 POLR2A ELK1 MFSD8 JADE1 PGRMC2 ABHD18 LOC100507487 LOC101927259 GC04P128333
GH04H128392 1.5 Ensembl ENCODE dbSUPER 11.4 -427.3 -427280 1 PKNOX1 ARNT FEZF1 ZNF2 ZNF121 GLIS2 KLF7 TSHZ1 ZNF488 MEF2D LOC100507487 MFSD8 GC04P128333 LOC101927259
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MFSD8 on UCSC Golden Path with GeneCards custom track

Promoters for MFSD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for MFSD8 Gene

Genomic Locations for MFSD8 Gene
48,303 bases
Minus strand

Genomic View for MFSD8 Gene

Genes around MFSD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFSD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFSD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFSD8 Gene

Proteins for MFSD8 Gene

  • Protein details for MFSD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Major facilitator superfamily domain-containing protein 8
    Protein Accession:
    Secondary Accessions:
    • B2RDM1
    • B7Z205
    • Q8N2P3

    Protein attributes for MFSD8 Gene

    518 amino acids
    Molecular mass:
    57628 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MFSD8 Gene


neXtProt entry for MFSD8 Gene

Post-translational modifications for MFSD8 Gene

  • Glycosylation at Asn371 and Asn376
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MFSD8 Gene

Domains & Families for MFSD8 Gene

Gene Families for MFSD8 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for MFSD8 Gene


Suggested Antigen Peptide Sequences for MFSD8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the major facilitator superfamily.
  • Belongs to the major facilitator superfamily.
genes like me logo Genes that share domains with MFSD8: view

Function for MFSD8 Gene

Molecular function for MFSD8 Gene

UniProtKB/Swiss-Prot Function:
May be a carrier that transport small solutes by using chemiosmotic ion gradients.

Phenotypes From GWAS Catalog for MFSD8 Gene

genes like me logo Genes that share phenotypes with MFSD8: view

Human Phenotype Ontology for MFSD8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MFSD8 Gene

MGI Knock Outs for MFSD8:

Animal Model Products

CRISPR Products

miRNA for MFSD8 Gene

miRTarBase miRNAs that target MFSD8

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for MFSD8 Gene

Localization for MFSD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFSD8 Gene

Lysosome membrane; Multi-pass membrane protein. Note=Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFSD8 gene
Compartment Confidence
nucleus 5
lysosome 5
plasma membrane 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MFSD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 17897319
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MFSD8: view

Pathways & Interactions for MFSD8 Gene

SuperPathways for MFSD8 Gene

SuperPathway Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with MFSD8: view

Pathways by source for MFSD8 Gene

1 KEGG pathway for MFSD8 Gene

Interacting Proteins for MFSD8 Gene

Gene Ontology (GO) - Biological Process for MFSD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007040 lysosome organization N --
GO:0010506 regulation of autophagy N --
GO:0048666 neuron development N --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with MFSD8: view

No data available for SIGNOR curated interactions for MFSD8 Gene

Drugs & Compounds for MFSD8 Gene

No Compound Related Data Available

Transcripts for MFSD8 Gene

Unigene Clusters for MFSD8 Gene

Major facilitator superfamily domain containing 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFSD8 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
SP1: - -
SP2: - -
SP3: -
SP5: -

Relevant External Links for MFSD8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MFSD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MFSD8 Gene

Protein differential expression in normal tissues from HIPED for MFSD8 Gene

This gene is overexpressed in Nasal epithelium (59.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MFSD8 Gene

Protein tissue co-expression partners for MFSD8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MFSD8 Gene:


SOURCE GeneReport for Unigene cluster for MFSD8 Gene:


mRNA Expression by UniProt/SwissProt for MFSD8 Gene:

Tissue specificity: Expressed at very low levels in all tissues tested.

Evidence on tissue expression from TISSUES for MFSD8 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MFSD8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • nervous
  • respiratory
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
  • pharynx
  • heart
  • blood vessel
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with MFSD8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MFSD8 Gene

Orthologs for MFSD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for MFSD8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MFSD8 33 34
  • 99.55 (n)
(Canis familiaris)
Mammalia MFSD8 33 34
  • 88.8 (n)
(Bos Taurus)
Mammalia MFSD8 33 34
  • 88.74 (n)
(Mus musculus)
Mammalia Mfsd8 33 16 34
  • 84.04 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 74 (a)
-- 34
  • 51 (a)
(Gallus gallus)
Aves MFSD8 33 34
  • 70.87 (n)
(Anolis carolinensis)
Reptilia MFSD8 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd8 33
  • 66.47 (n)
(Danio rerio)
Actinopterygii mfsd8 33 34
  • 63.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8596 33 34
  • 47.76 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012381 33
  • 45.31 (n)
(Caenorhabditis elegans)
Secernentea CELE_F14D7.6 33
  • 47.45 (n)
F14D7.6 34
  • 30 (a)
T28C12.1 34
  • 30 (a)
ZK550.2 34
  • 30 (a)
T28C12.2 34
  • 28 (a)
W05E10.1 34
  • 27 (a)
Y53G8AR.7 34
  • 26 (a)
F27D9.2 34
  • 25 (a)
W01B6.3 34
  • 25 (a)
F57A8.7 34
  • 24 (a)
W03C9.6 34
  • 22 (a)
F52F10.2 34
  • 21 (a)
F58G11.4 34
  • 21 (a)
C25E10.4 34
  • 20 (a)
C25E10.5 34
  • 20 (a)
srsx-34 34
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
Species where no ortholog for MFSD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MFSD8 Gene

Gene Tree for MFSD8 (if available)
Gene Tree for MFSD8 (if available)

Paralogs for MFSD8 Gene

No data available for Paralogs for MFSD8 Gene

Variants for MFSD8 Gene

Sequence variations from dbSNP and Humsavar for MFSD8 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs118203975 Pathogenic, Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] 127,930,752(-) TAATG(A/G)CATAA nc-transcript-variant, reference, missense
rs118203976 Pathogenic, Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] 127,921,588(-) ATTAG(A/G)CTATC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs118203978 Pathogenic, Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] 127,943,829(-) CCTCT(A/C/G)TGCAT nc-transcript-variant, reference, missense
rs140948465 Pathogenic, Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951] 127,930,800(+) CCATT(A/G/T)TTAAT nc-transcript-variant, reference, missense
rs150418024 Pathogenic, Macular dystrophy with central cone involvement (CCMD) [MIM:616170] 127,921,956(+) ACGCT(C/G/T)GCCAA intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MFSD8 Gene

Variant ID Type Subtype PubMed ID
nsv595388 CNV gain 21841781
nsv512834 CNV insertion 21212237
nsv1019193 CNV loss 25217958
esv2620539 CNV insertion 19546169
esv1374529 CNV insertion 17803354
dgv5385n100 CNV gain 25217958

Variation tolerance for MFSD8 Gene

Residual Variation Intolerance Score: 30.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.39; 71.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFSD8 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFSD8 Gene

Disorders for MFSD8 Gene

MalaCards: The human disease database

(14) MalaCards diseases for MFSD8 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 7
  • neuronal ceroid lipofuscinosis 7
macular dystrophy with central cone involvement
  • ccmd
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
neurotic disorder
  • depressive neurosis
neuronal ceroid lipofuscinosis
  • neuronal ceroid-lipofuscinoses
- elite association - COSMIC cancer census association via MalaCards
Search MFSD8 in MalaCards View complete list of genes associated with diseases


  • Ceroid lipofuscinosis, neuronal, 7 (CLN7) [MIM:610951]: A form of neuronal ceroid lipofuscinosis with onset in early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. {ECO:0000269 PubMed:17564970, ECO:0000269 PubMed:18850119, ECO:0000269 PubMed:19177532, ECO:0000269 PubMed:19201763, ECO:0000269 PubMed:19277732, ECO:0000269 PubMed:21990111, ECO:0000269 PubMed:22612257}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular dystrophy with central cone involvement (CCMD) [MIM:616170]: An ocular disease characterized by decreased visual acuity, slight pigmentary changes and color vision abnormalities, becoming apparent in the third to sixth decade of life. Fundus anomalies are variable and include bulls eye maculopathy, severe atrophy of central fovea, relatively spared fovea with surrounding atrophic ring, central retinal pigment epithelium and/or choroid changes, pale or atrophic peripapillary area, pale optic disk, relatively spared periphery, and slightly or moderately attenuated vessels. {ECO:0000269 PubMed:25227500}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MFSD8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MFSD8: view

No data available for Genatlas for MFSD8 Gene

Publications for MFSD8 Gene

  1. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. (PMID: 17564970) Siintola E … Lehesjoki AE (American journal of human genetics 2007) 2 3 4 60
  2. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. (PMID: 25227500) Roosing S … Hoyng CB (Ophthalmology 2015) 3 4 60
  3. Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. (PMID: 19277732) Aldahmesh MA … Alkuraya FS (Neurogenetics 2009) 3 4 60
  4. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PMID: 19201763) Kousi M … Lehesjoki AE (Brain : a journal of neurology 2009) 3 4 60
  5. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. (PMID: 19177532) Aiello C … Santorelli FM (Human mutation 2009) 3 4 60

Products for MFSD8 Gene

Sources for MFSD8 Gene

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