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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

No data available for 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
GH04F128349 1 Ensembl ENCODE 33.7 -384.0 -384037 1.2 PKNOX1 ATF1 BRCA1 YY1 GATA2 FOS YY2 SP5 PPARG KAT8 MFSD8 LOC100507487 GC04P128333 LOC101927259
GH04F128551 0.4 ENCODE 20.6 -587.4 -587445 3.0 PKNOX1 ARNT CREB3L1 WRNIP1 SIN3A FEZF1 ZNF2 YY1 CBX5 ZNF416 MFSD8 RPL21P53 INTU JADE1 LOC101927259 C4orf33 GC04P128333
GH04F128516 1 FANTOM5 Ensembl ENCODE 13.6 -553.4 -553445 6.7 HDGF PKNOX1 ATF1 ARNT SIN3A GATA2 FOS JUNB NCOA1 TBX21 LOC100507487 MFSD8 JADE1 PGRMC2 LOC101927259 GC04P128333
GH04F126968 0.7 ENCODE 11 +995.9 995899 2.7 SMARCA4 RAD21 ZZZ3 MFSD8 RPL21P53 ENSG00000199862 GC04M127030 RBM48P1
GH04F128460 0.8 Ensembl ENCODE 10.5 -495.5 -495536 1.4 ATF1 PKNOX1 ARNT FEZF1 GATA2 FOS NCOA1 REST MEF2D MAFF MFSD8 JADE1 LOC100507487 LOC101927259 GC04P128333
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001249302 895 3001 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 ZNF263 SP3

Genomic Location for MFSD8 Gene

Chromosome:
4
Start:
127,917,805 bp from pter
End:
127,965,995 bp from pter
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

    Alternative splice isoforms for MFSD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFSD8 Gene

Post-translational modifications for MFSD8 Gene

  • Glycosylation at Asn 371 and Asn 376
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MFSD8 Gene

Domains & Families for MFSD8 Gene

Protein Domains for MFSD8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFSD8 Gene

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

No data available for Gene Families for MFSD8 Gene

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.
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

  • Taconic Biosciences Mouse Models for MFSD8

miRNA for MFSD8 Gene

miRTarBase miRNAs that target MFSD8

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for MFSD8 Gene COMPARTMENTS Subcellular localization image for MFSD8 gene
Compartment Confidence
lysosome 5
nucleus 5
vacuole 5
plasma membrane 3
peroxisome 1

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 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

Transcripts for MFSD8 Gene

Unigene Clusters for MFSD8 Gene

Major facilitator superfamily domain containing 8:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: -
SP4:
SP5: -
SP6:

Relevant External Links for MFSD8 Gene

GeneLoc Exon Structure for
MFSD8
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of MFSD8 Gene:

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.
genes like me logo Genes that share expression patterns with MFSD8: view

Primer Products

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 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia MFSD8 34 35
  • 88.8 (n)
cow
(Bos Taurus)
Mammalia MFSD8 34 35
  • 88.74 (n)
mouse
(Mus musculus)
Mammalia Mfsd8 34 16 35
  • 84.04 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 74 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
chicken
(Gallus gallus)
Aves MFSD8 34 35
  • 70.87 (n)
lizard
(Anolis carolinensis)
Reptilia MFSD8 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfsd8 34
  • 66.47 (n)
zebrafish
(Danio rerio)
Actinopterygii mfsd8 34 35
  • 63.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8596 34 35
  • 47.76 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012381 34
  • 45.31 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F14D7.6 34
  • 47.45 (n)
F14D7.6 35
  • 30 (a)
OneToMany
T28C12.1 35
  • 30 (a)
OneToMany
ZK550.2 35
  • 30 (a)
OneToMany
T28C12.2 35
  • 28 (a)
OneToMany
W05E10.1 35
  • 27 (a)
OneToMany
Y53G8AR.7 35
  • 26 (a)
OneToMany
F27D9.2 35
  • 25 (a)
OneToMany
W01B6.3 35
  • 25 (a)
OneToMany
F57A8.7 35
  • 24 (a)
OneToMany
W03C9.6 35
  • 22 (a)
OneToMany
F52F10.2 35
  • 21 (a)
OneToMany
F58G11.4 35
  • 21 (a)
OneToMany
C25E10.4 35
  • 20 (a)
OneToMany
C25E10.5 35
  • 20 (a)
OneToMany
srsx-34 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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

Relevant External Links for MFSD8 Gene

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

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

Disorders for MFSD8 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MFSD8 Gene - From: 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
  • ceroid lipofuscinosis, neuronal, 1
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

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 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:
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 A.-E. (Am. J. Hum. Genet. 2007) 2 3 4 64
  2. Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy. (PMID: 25227500) Roosing S. … Hoyng C.B. (Ophthalmology 2014) 3 4 64
  3. A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. (PMID: 18850119) Stogmann E. … Zimprich A. (Neurogenetics 2009) 3 4 64
  4. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. (PMID: 19177532) Aiello C. … Santorelli F.M. (Hum. Mutat. 2009) 3 4 64
  5. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PMID: 19201763) Kousi M. … Lehesjoki A.-E. (Brain 2009) 3 4 64

Products for MFSD8 Gene

Sources for MFSD8 Gene

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