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Mfsd8 Gene Detail
Summary
  • Symbol
    Mfsd8
  • Name
    major facilitator superfamily domain containing 8
  • Synonyms
    2810423E13Rik, Cln7
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919425
    NCBI Gene: 72175
  • Gene Overview
    MyGene.info: MFSD8
Location & Maps
more
  • Sequence Map
    Chr3:40818103-40846886 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28784 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 19.55 cM, cytoband C
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    MFSD8, major facilitator superfamily domain containing 8
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MFSD8, major facilitator superfamily domain containing 8
    Orthology source: HomoloGene
  • Synonyms
    CCMD, CLN7
  • Links
    NCBI Gene ID: 256471
    neXtProt AC: NX_Q8NHS3

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

Human Diseases
more
  • Diseases
    1 with Mfsd8 mouse models; 2 with human MFSD8 associations

Human Disease Mouse Models
       Ceroid Lipofuscinosis, Neuronal, 7; CLN7   OMIM: 610951 View 1 model
       Macular Dystrophy with Central Cone Involvement; CCMD   OMIM: 616170
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 2 alleles in 2 genetic backgrounds
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Gene trapped
    3
  • Radiation induced
    2
  • Targeted
    4
  • Genomic Mutations
    2 involving Mfsd8
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027548 VEGA Gene Model | MGI Sequence Detail 28784 C57BL/6J ±  kb
transcript OTTMUST00000068214 VEGA | MGI Sequence Detail 3151 Not Applicable  
polypeptide OTTMUSP00000034429 VEGA | MGI Sequence Detail 519 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    119 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000010375 major facilitator superfamily domain-containing protein 8
  • InterPro Domains
    IPR011701 Major facilitator superfamily
    IPR020846 Major facilitator superfamily domain
Molecular
Reagents
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  • All nucleic 37
    cDNA 37

    Microarray probesets 5
Other
Accession IDs
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MGI:2139801, MGI:3035426
References
more
  • Summaries
    All 35
    Diseases 1
    Gene Ontology 5
    Phenotypes 15
  • 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:229309 Brandenstein L, et al., Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7. Hum Mol Genet. 2016 Feb 15;25(4):777-91

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory