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    Mfsd8 major facilitator superfamily domain containing 8 [ Mus musculus (house mouse) ]

    Gene ID: 72175, updated on 14-Jan-2025

    Summary

    Official Symbol
    Mfsd8provided by MGI
    Official Full Name
    major facilitator superfamily domain containing 8provided by MGI
    Primary source
    MGI:MGI:1919425
    See related
    Ensembl:ENSMUSG00000025759 AllianceGenome:MGI:1919425
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cln7; 2810423E13Rik
    Summary
    Enables chloride channel activity. Acts upstream of or within several processes, including TORC1 signaling; neurogenesis; and regulation of catabolic process. Located in lysosome and membrane. Is active in mitochondrion. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Used to study neuronal ceroid lipofuscinosis 7. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 7. Orthologous to human MFSD8 (major facilitator superfamily domain containing 8). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 4.3), CNS E18 (RPKM 4.2) and 27 other tissues See more
    Orthologs
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    Genomic context

    See Mfsd8 in Genome Data Viewer
    Location:
    3 B; 3 19.55 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (40772500..40801322, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (40818065..40846880, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene heat shock protein 4 like Neighboring gene STARR-seq mESC enhancer starr_07472 Neighboring gene STARR-positive B cell enhancer ABC_E9547 Neighboring gene polo like kinase 4 Neighboring gene STARR-positive B cell enhancer ABC_E1617 Neighboring gene predicted gene 2011 Neighboring gene FUN14 domain containing 2 pseudogene Neighboring gene RIKEN cDNA 6430590A07 gene Neighboring gene abhydrolase domain containing 18

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (4)  1 citation

    General gene information

    Clone Names

    • MGC132949, MGC132950

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chloride channel activity  
    enables chloride channel activity PubMed 
    enables chloride channel activity  
    enables fluoride channel activity  
    enables fluoride channel activity  
    enables iodide transmembrane transporter activity  
    enables iodide transmembrane transporter activity  
    enables iodide transmembrane transporter activity  
    enables molecular_function  
    Items 1 - 25 of 42
    Process Evidence Code Pubs
    acts_upstream_of_or_within TORC1 signaling PubMed 
    acts_upstream_of_or_within apoptotic process PubMed 
    acts_upstream_of_or_within astrocyte differentiation PubMed 
    involved_in autophagosome maturation  
    acts_upstream_of_or_within autophagosome maturation PubMed 
    acts_upstream_of_or_within autophagy PubMed 
    acts_upstream_of_or_within cellular respiration PubMed 
    involved_in chloride transmembrane transport  
    acts_upstream_of_or_within determination of adult lifespan PubMed 
    acts_upstream_of_or_within determination of adult lifespan PubMed 
    involved_in fluoride transmembrane transport  
    acts_upstream_of_or_within gene expression PubMed 
    acts_upstream_of_or_within gene expression PubMed 
    acts_upstream_of_or_within gliogenesis PubMed 
    acts_upstream_of_or_within glycolipid metabolic process PubMed 
    acts_upstream_of_or_within glycolytic process PubMed 
    acts_upstream_of_or_within glycoprotein metabolic process PubMed 
    acts_upstream_of_or_within inclusion body assembly PubMed 
    involved_in iodide transport  
    acts_upstream_of_or_within lysosomal protein catabolic process PubMed 
    involved_in lysosome organization  
    acts_upstream_of_or_within lysosome organization PubMed 
    acts_upstream_of_or_within lysosome organization PubMed 
    acts_upstream_of_or_within lysosome organization PubMed 
    acts_upstream_of_or_within maintenance of location PubMed 
    acts_upstream_of_or_within microglia differentiation PubMed 
    acts_upstream_of_or_within mitochondrion organization PubMed 
    acts_upstream_of_or_within motor behavior PubMed 
    acts_upstream_of_or_within motor behavior PubMed 
    acts_upstream_of_or_within multicellular organism growth PubMed 
    acts_upstream_of_or_within multicellular organism growth PubMed 
    acts_upstream_of_or_within negative regulation of neuron apoptotic process PubMed 
    acts_upstream_of_or_within neuromuscular process PubMed 
    acts_upstream_of_or_within neuromuscular process PubMed 
    acts_upstream_of_or_within neuron apoptotic process PubMed 
    acts_upstream_of_or_within neuron development PubMed 
    acts_upstream_of_or_within protein stabilization PubMed 
    acts_upstream_of_or_within reactive oxygen species metabolic process PubMed 
    acts_upstream_of_or_within regulation of autophagy PubMed 
    acts_upstream_of_or_within regulation of catalytic activity PubMed 
    acts_upstream_of_or_within regulation of lysosomal protein catabolic process PubMed 
    acts_upstream_of_or_within retina development in camera-type eye PubMed 
    Items 1 - 25 of 42
    Component Evidence Code Pubs
    part_of chloride channel complex  
    located_in endosome membrane  
    located_in endosome membrane  
    is_active_in lysosomal membrane  
    located_in lysosomal membrane  
    located_in lysosomal membrane  
    located_in lysosome PubMed 
    located_in membrane PubMed 
    is_active_in mitochondrion PubMed 

    General protein information

    Preferred Names
    major facilitator superfamily domain-containing protein 8

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_028140.6NP_082416.2  major facilitator superfamily domain-containing protein 8

      See identical proteins and their annotated locations for NP_082416.2

      Status: VALIDATED

      Source sequence(s)
      AC160757
      Consensus CDS
      CCDS17329.1
      UniProtKB/Swiss-Prot
      Q8BH31, Q91VS1, Q9CZ06
      Related
      ENSMUSP00000026859.6, ENSMUST00000026859.11
      Conserved Domains (2) summary
      cd06174
      Location:40504
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:43470
      MFS_1; Major Facilitator Superfamily

    RNA

    1. NR_190651.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC160757
    2. NR_190652.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC160757

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      40772500..40801322 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036163349.1XP_036019242.1  major facilitator superfamily domain-containing protein 8 isoform X1

      Conserved Domains (1) summary
      cd17326
      Location:1373
      MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

    RNA

    1. XR_004941405.1 RNA Sequence

    2. XR_004941404.1 RNA Sequence

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