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 ge... See more...

Aliases for MFSD8 Gene

Aliases for MFSD8 Gene

  • Major Facilitator Superfamily Domain Containing 8 2 3 5
  • Major Facilitator Superfamily Domain-Containing Protein 8 3 4
  • CLN7 3 4
  • Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile, Variant 2
  • 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. Gene Ontology (GO) annotations related to this gene include transmembrane transporter activity. An important paralog of this gene is ENSG00000283761.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for MFSD8 Gene

Genomics for MFSD8 Gene

GeneHancer (GH) Regulatory Elements for MFSD8 Gene

Promoters and enhancers for MFSD8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J127963 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.5 481 4.7 FOXK2 ZBTB40 ZNF217 CTCF NRF1 MYC USF1 POLR2G SP1 NCOR1 ABHD18 MFSD8 lnc-PGRMC2-3 RNU6-583P PLK4 INTU
GH04J128551 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.8 -587.4 -587406 3 EP300 CTCF ZSCAN5C TCF12 POLR2G NCOR1 RBAK GTF2E2 JUND FOS ENSG00000273077 LOC101927259 MFSD8 JADE1 PGRMC2 C4orf33
GH04J128059 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.4 -95.7 -95667 3.8 HNRNPK SIN3A NRF1 POLR2G GTF2E2 PHF8 ZFX CTCF ZIC2 REST LARP1B lnc-MFSD8-7 INTU MFSD8 HSPA4L ABHD18 lnc-LARP1B-4 RPL15P8
GH04J127879 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.2 +85.0 85033 3.2 ZBTB40 ZNF217 SIN3A NRF1 POLR2G SP1 GTF2E2 PHF8 JUND ZFX PLK4 lnc-MFSD8-12 MFSD8 INTU HSPA4L ABHD18
GH04J128347 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.7 -382.8 -382767 4.4 FOXK2 ZNF217 TCF12 NCOR1 PHB2 FOS KDM6A TCF7 FOXA1 AFF1 MFSD8 LINC02615 lnc-LARP1B-6 PGRMC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFSD8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFSD8

Top Transcription factor binding sites by QIAGEN in the MFSD8 gene promoter:
  • RSRFC4
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6

Genomic Locations for MFSD8 Gene

Genomic Locations for MFSD8 Gene
chr4:127,917,732-127,966,034
(GRCh38/hg38)
Size:
48,303 bases
Orientation:
Minus strand
chr4:128,838,960-128,887,150
(GRCh37/hg19)
Size:
48,191 bases
Orientation:
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:
    Q8NHS3-MFSD8_HUMAN
    Recommended name:
    Major facilitator superfamily domain-containing protein 8
    Protein Accession:
    Q8NHS3
    Secondary Accessions:
    • B2RDM1
    • B7Z205
    • Q8N2P3

    Protein attributes for MFSD8 Gene

    Size:
    518 amino acids
    Molecular mass:
    57628 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for MFSD8 Gene

    UniProtKB/Swiss-Prot:

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFSD8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50474 (B7Z205_HUMAN)
  • cDNA FLJ50490 (B7Z2B2_HUMAN)
  • Ceroid-lipofuscinosis neuronal protein 7 (MFSD8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NHS3

UniProtKB/Swiss-Prot:

MFSD8_HUMAN :
  • Belongs to the major facilitator superfamily.
Family:
  • 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

Gene Ontology (GO) - Molecular Function for MFSD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with MFSD8: view
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:
  • Mfsd8 Mfsd8<tm1b(EUCOMM)Hmgu>
  • Mfsd8 Mfsd8<tm1a(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for MFSD8

CRISPR Products

miRNA for MFSD8 Gene

miRTarBase miRNAs that target MFSD8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFSD8

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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
plasma membrane 4
nucleus 4
lysosome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 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,HDA 17897319
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MFSD8: view

Pathways & Interactions for MFSD8 Gene

PathCards logo

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

Gene Ontology (GO) - Biological Process for MFSD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007040 lysosome organization IEA --
GO:0010506 regulation of autophagy IEA --
GO:0048666 neuron development IEA --
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

mRNA/cDNA for MFSD8 Gene

10 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
62 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFSD8

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: -
SP4:
SP5: -
SP6:

Relevant External Links for MFSD8 Gene

GeneLoc Exon Structure for
MFSD8

Expression for MFSD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MFSD8 Gene



Protein tissue co-expression partners for MFSD8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFSD8

SOURCE GeneReport for Unigene cluster for MFSD8 Gene:

Hs.480701

mRNA Expression by UniProt/SwissProt for MFSD8 Gene:

Q8NHS3-MFSD8_HUMAN
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
Systems:
  • cardiovascular
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • heart
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia MFSD8 31 30
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MFSD8 31 30
  • 88.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MFSD8 31 30
  • 88.74 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mfsd8 17 31 30
  • 84.04 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 74 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
chicken
(Gallus gallus)
Aves MFSD8 31 30
  • 70.87 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFSD8 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd8 30
  • 66.47 (n)
zebrafish
(Danio rerio)
Actinopterygii mfsd8 31 30
  • 63.41 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8596 31 30
  • 47.76 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012381 30
  • 45.31 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F14D7.6 30
  • 47.45 (n)
F14D7.6 31
  • 30 (a)
OneToMany
T28C12.1 31
  • 30 (a)
OneToMany
ZK550.2 31
  • 30 (a)
OneToMany
T28C12.2 31
  • 28 (a)
OneToMany
W05E10.1 31
  • 27 (a)
OneToMany
Y53G8AR.7 31
  • 26 (a)
OneToMany
F27D9.2 31
  • 25 (a)
OneToMany
W01B6.3 31
  • 25 (a)
OneToMany
F57A8.7 31
  • 24 (a)
OneToMany
W03C9.6 31
  • 22 (a)
OneToMany
F58G11.4 31
  • 21 (a)
OneToMany
F52F10.2 31
  • 21 (a)
OneToMany
C25E10.4 31
  • 20 (a)
OneToMany
C25E10.5 31
  • 20 (a)
OneToMany
srsx-34 31
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToOne
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

ENSEMBL:
Gene Tree for MFSD8 (if available)
TreeFam:
Gene Tree for MFSD8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MFSD8: view image

Paralogs for MFSD8 Gene

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

Variants for MFSD8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFSD8 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
206170 Uncertain Significance: Ceroid lipofuscinosis neuronal 7 127,938,843(-) A/C INTRON_VARIANT
641252 Pathogenic: Ceroid lipofuscinosis neuronal 7 127,943,958(-) C/T NONSENSE
642911 Uncertain Significance: Ceroid lipofuscinosis neuronal 7 127,943,782(-) C/T MISSENSE_VARIANT
644703 Uncertain Significance: Ceroid lipofuscinosis neuronal 7 127,957,592(-) T/G MISSENSE_VARIANT
645524 Uncertain Significance: Ceroid lipofuscinosis neuronal 7 127,949,829(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MFSD8 Gene

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

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

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)

Additional Variant Information for MFSD8 Gene

Human Gene Mutation Database (HGMD)
MFSD8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFSD8

SNP Genotyping and Copy Number Assay Products

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

Disorders for MFSD8 Gene

MalaCards: The human disease database

(26) MalaCards diseases for MFSD8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MFSD8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MFSD8_HUMAN
  • 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 bull's 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.

Additional Disease Information for MFSD8

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 54
  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 54
  3. Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. (PMID: 19277732) Aldahmesh MA … Alkuraya FS (Neurogenetics 2009) 3 4 54
  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 54
  5. A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. (PMID: 18850119) Stogmann E … Zimprich A (Neurogenetics 2009) 3 4 54

Products for MFSD8 Gene

Sources for MFSD8 Gene