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Mfsd8
Gene Detail
Symbol

Name
ID
Mfsd8
major facilitator superfamily domain containing 8
MGI:1919425
Synonyms
2810423E13Rik, Cln7
Feature Type
protein coding gene
Genetic Map
Chromosome 3
19.55 cM, cytoband C
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr3:40818070-40846885 bp, - strand
From VEGA annotation of GRCm38

  28816 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:115814  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MFSD8
Gene Tree: Mfsd8

Human
homologs
MFSD8, major facilitator superfamily domain containing 8
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 256471
neXtProt AC: NX_Q8NHS3

Human Synonyms: CCMD, CLN7

Human Chr (Location): 4q28.2; chr4:127917805-127965984 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human MFSD8

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(3) Targeted(4)
Incidental mutations (data from CvDC )
 
Mice homozygous for a null allele exhibit accumulation of autofluorescent material in the brain and peripheral tissues, retinal photoreceptor degeneration, presence of dense lamellar bodies in neurons, and a late-onset reactive gliosis and subtle astrogliosis in the brain.
 
Human Diseases Modeled in Mice Using Mfsd8 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Mfsd8 interacts with 264 markers (Mir1a-1, Mir1a-2, Mir10b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (11 annotations)
Process lysosome organization, transmembrane transport, ...
Component integral component of membrane, intracellular membrane-bounded organelle, ...
Function molecular_function
External Resources: FuncBase
Expression
cDNA source data(37)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN mfsd8    NEW 
Molecular
reagents
All nucleic(37) cDNA(37)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000027548 (Evidence)
Ensembl Gene Model ENSMUSG00000025759 (Evidence)
Entrez Gene 72175 (Evidence)
UniGene 130610
NIA Mouse Gene Index U023973
Consensus CDS Project CCDS17329.1
International Mouse Phenotyping Consortium Status Mfsd8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027548 VEGA Gene Model | MGI Sequence Detail 28816 C57BL/6J ±  kb
transcript OTTMUST00000068214 VEGA | MGI Sequence Detail 3184 Not Applicable 
polypeptide OTTMUSP00000034429 VEGA | MGI Sequence Detail 519 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(7) UniProt(2)
Polymorphisms
SNPs within 2kb(140 from dbSNP Build 137)    SNPs within 2kb including multiple locations(188)
Protein-related
information
ResourceIDDescription
InterPro IPR011701 Major facilitator superfamily
InterPro IPR020846 Major facilitator superfamily domain
Protein Ontology PR:000010375 major facilitator superfamily domain-containing protein 8
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:211608 Damme M, et al., Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. Neurobiol Dis. 2014 May;65:12-24
All references(34)
Disease annotation references (1)
Other
accession IDs
MGI:2139801, MGI:3035426

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory