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    MFSD8 major facilitator superfamily domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 256471, updated on 3-Apr-2024

    Summary

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    Official Symbol
    MFSD8provided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:28486
    See related
    Ensembl:ENSG00000164073 MIM:611124; AllianceGenome:HGNC:28486
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCMD; CLN7
    Summary
    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]
    Expression
    Ubiquitous expression in skin (RPKM 4.9), thyroid (RPKM 4.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MFSD8 in Genome Data Viewer
    Location:
    4q28.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (127917732..127965963, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (131220758..131270005, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (128838887..128887118, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene heat shock protein family A (Hsp70) member 4 like Neighboring gene ribosomal protein L21 pseudogene 53 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:128767199-128767740 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21887 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73815 Neighboring gene RNA, U6 small nuclear 583, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73859 Neighboring gene polo like kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15675 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:128886145-128886760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:128887439-128887940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:128887941-128888440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15679 Neighboring gene abhydrolase domain containing 18 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73920 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73968 Neighboring gene H3K27ac hESC enhancers GRCh37_chr4:128981832-128982690 and GRCh37_chr4:128982691-128983549 Neighboring gene MPRA-validated peak5106 silencer Neighboring gene La ribonucleoprotein 1B Neighboring gene ribosomal protein L15 pseudogene 8 Neighboring gene FOSL1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants. Poncet AF, et al. Int J Mol Sci, 2022 Apr 13. PMID 35457110, Free PMC Article
    2. A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability. Reith M, et al. Int J Mol Sci, 2022 Feb 18. PMID 35216386, Free PMC Article
    3. Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China. Huang L, et al. Eur J Neurosci, 2021 Feb. PMID 33226711
    4. MFSD8 gene mutations; evidence for phenotypic heterogeneity. Zare-Abdollahi D, et al. Ophthalmic Genet, 2019 Apr. PMID 31006324
    5. Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia. Geier EG, et al. Acta Neuropathol, 2019 Jan. PMID 30382371, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
      Title: Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
    2. A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
      Title: A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
    3. Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
      Title: Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
    4. Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China.
      Title: Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China.
    5. that MFSD8-associated lysosomal dysfunction may contribute to frontotemporal lobar degeneration pathology
      Title: Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
    6. Here and for the first time, we reported on two previously variant late-infantile neuronal ceroid lipofuscinoses-associated variants in MFSD8 but in association with a form of cone-rod dystrophy known as non-syndromic macular dystrophy with central cone involvement.
      Title: MFSD8 gene mutations; evidence for phenotypic heterogeneity.
    7. We identified a novel homozygous mutation in MFSD8 gene.
      Title: A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
    8. Quantification revealed that the amounts of 12 different soluble lysosomal proteins were significantly reduced in Cln7 ko MEFs compared with wild-type controls. One of the most significantly depleted lysosomal proteins was Cln5 protein that underlies another distinct neuronal ceroid lipofuscinosis disorder
      Title: Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
    9. This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease.
      Title: Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
    10. MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 mutation
      Title: Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Macular dystrophy with central cone involvement
    MedGen: C4015371 OMIM: 616170 GeneReviews: Not available
    		Compare labs
    Neuronal ceroid lipofuscinosis 7
    MedGen: C1838571 OMIM: 610951 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33302

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables fluoride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables iodide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in TORC1 signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in autophagosome maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fluoride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in iodide transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lysosome organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of lysosomal protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane HDA PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    major facilitator superfamily domain-containing protein 8
    Names
    ceroid-lipofuscinosis, neuronal 7, late infantile

    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.

    Genomic

    1. NG_008657.1 RefSeqGene

      Range
      5022..53180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_833

    mRNA and Protein(s)

    1. NM_001363520.3 → NP_001350449.1  major facilitator superfamily domain-containing protein 8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks two consecutive alternate exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC099340
      Consensus CDS
      CCDS87259.1
      UniProtKB/TrEMBL
      A0A286YEW8, A0A286YFI9
      Related
      ENSP00000492966.1, ENST00000641690.1
      Conserved Domains (1) summary
      cd06174
      Location:39 → 436
      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 ...

    2. NM_001363521.3 → NP_001350450.1  major facilitator superfamily domain-containing protein 8 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks three consecutive alternate exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC099340
      Consensus CDS
      CCDS87255.1
      UniProtKB/TrEMBL
      A0A286YFF1, A0A286YFI9
      Related
      ENSP00000493459.1, ENST00000641509.1
      Conserved Domains (1) summary
      cd06174
      Location:39 → 398
      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 ...

    3. NM_001371590.2 → NP_001358519.1  major facilitator superfamily domain-containing protein 8 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC099340
      Consensus CDS
      CCDS93626.1
      UniProtKB/TrEMBL
      A0A286YF45, B7Z2P8
      Related
      ENSP00000492989.1, ENST00000641178.1
      Conserved Domains (1) summary
      cd17326
      Location:1 → 462
      MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

    4. NM_001371591.2 → NP_001358520.1  major facilitator superfamily domain-containing protein 8 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC099340
      UniProtKB/TrEMBL
      B7Z2P8
      Related
      ENSP00000493260.1, ENST00000642042.1
      Conserved Domains (1) summary
      cd17326
      Location:39 → 510
      MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

    5. NM_001371592.2 → NP_001358521.1  major facilitator superfamily domain-containing protein 8 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC099340
      UniProtKB/TrEMBL
      B7Z2P8
      Conserved Domains (1) summary
      cd17326
      Location:39 → 509
      MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

    6. NM_001371593.2 → NP_001358522.1  major facilitator superfamily domain-containing protein 8 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC099340
      Consensus CDS
      CCDS93628.1
      UniProtKB/TrEMBL
      A0A286YFI8, A0A286YFI9
      Related
      ENSP00000493347.1, ENST00000641186.1
      Conserved Domains (1) summary
      cd17326
      Location:39 → 469
      MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

    7. NM_001371594.2 → NP_001358523.1  major facilitator superfamily domain-containing protein 8 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC099340
      UniProtKB/TrEMBL
      A0A286YFI9
      Conserved Domains (1) summary
      cd17326
      Location:39 → 458
      MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

    8. NM_001371595.1 → NP_001358524.1  major facilitator superfamily domain-containing protein 8 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC099340
      Consensus CDS
      CCDS93623.1
      UniProtKB/TrEMBL
      B7Z2P8, E7ERQ4
      Related
      ENSP00000425000.2, ENST00000513559.6
      Conserved Domains (1) summary
      cd17326
      Location:1 → 413
      MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

    9. NM_001371596.2 → NP_001358525.1  major facilitator superfamily domain-containing protein 8 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC099340
      Consensus CDS
      CCDS3736.1
      UniProtKB/Swiss-Prot
      B2RDM1, B7Z205, Q8N2P3, Q8NHS3
      UniProtKB/TrEMBL
      B7Z2P8
      Related
      ENSP00000493218.2, ENST00000641686.2
      Conserved Domains (1) summary
      cd17326
      Location:39 → 507
      MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

    10. NM_001410765.1 → NP_001397694.1  major facilitator superfamily domain-containing protein 8 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC099340
      Consensus CDS
      CCDS93622.1
      UniProtKB/TrEMBL
      A0A286YFB5
      Related
      ENSP00000493133.1, ENST00000641147.1

    11. NM_001410766.1 → NP_001397695.1  major facilitator superfamily domain-containing protein 8 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC099340
      Consensus CDS
      CCDS93627.1
      UniProtKB/TrEMBL
      A0A286YF72
      Related
      ENSP00000493132.1, ENST00000641590.1

    12. NM_152778.4 → NP_689991.1  major facilitator superfamily domain-containing protein 8 isoform 1

      See identical proteins and their annotated locations for NP_689991.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AA242881, BC029503, BI553701, BQ015234, CB956202, CN310788, CX873070, DA481070
      Consensus CDS
      CCDS3736.1
      UniProtKB/Swiss-Prot
      B2RDM1, B7Z205, Q8N2P3, Q8NHS3
      UniProtKB/TrEMBL
      B7Z2P8
      Related
      ENSP00000296468.3, ENST00000296468.8
      Conserved Domains (1) summary
      cd17326
      Location:39 → 507
      MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      127917732..127965963 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453982.2 → XP_024309750.1  major facilitator superfamily domain-containing protein 8 isoform X1

      UniProtKB/TrEMBL
      A0A286YFI9
      Conserved Domains (1) summary
      cd06174
      Location:1 → 420
      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 ...

    2. XM_047449993.1 → XP_047305949.1  major facilitator superfamily domain-containing protein 8 isoform X3

    3. XM_047449992.1 → XP_047305948.1  major facilitator superfamily domain-containing protein 8 isoform X2

      UniProtKB/TrEMBL
      E7ERQ4
      Conserved Domains (1) summary
      cd17326
      Location:1 → 413
      MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

    4. XM_047449998.1 → XP_047305954.1  major facilitator superfamily domain-containing protein 8 isoform X9

    5. XM_047449995.1 → XP_047305951.1  major facilitator superfamily domain-containing protein 8 isoform X7

      UniProtKB/TrEMBL
      A0A286YEX1
      Related
      ENSP00000493056.1, ENST00000515130.6

    6. XM_017007989.2 → XP_016863478.1  major facilitator superfamily domain-containing protein 8 isoform X6

      UniProtKB/TrEMBL
      A0A286YFK4, A0A286YFM2
      Related
      ENSP00000493194.1, ENST00000641228.1

    7. XM_047449994.1 → XP_047305950.1  major facilitator superfamily domain-containing protein 8 isoform X5

    8. XM_005262898.4 → XP_005262955.1  major facilitator superfamily domain-containing protein 8 isoform X4

      UniProtKB/TrEMBL
      A0A286YF73, B7Z280
      Related
      ENSP00000493277.1, ENST00000641482.1
      Conserved Domains (2) summary
      cd06174
      Location:39 → 186
      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:42 → 186
      MFS_1; Major Facilitator Superfamily

    9. XM_047449999.1 → XP_047305955.1  major facilitator superfamily domain-containing protein 8 isoform X10

      UniProtKB/TrEMBL
      B7Z2B2
      Related
      ENSP00000492925.1, ENST00000641134.1

    10. XM_047449997.1 → XP_047305953.1  major facilitator superfamily domain-containing protein 8 isoform X8

      UniProtKB/TrEMBL
      A0A286YFC6
      Related
      ENSP00000493083.1, ENST00000641243.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      131220758..131270005 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349563.1 → XP_054205538.1  major facilitator superfamily domain-containing protein 8 isoform X1

    2. XM_054349565.1 → XP_054205540.1  major facilitator superfamily domain-containing protein 8 isoform X3

    3. XM_054349564.1 → XP_054205539.1  major facilitator superfamily domain-containing protein 8 isoform X2

      UniProtKB/TrEMBL
      E7ERQ4

    4. XM_054349571.1 → XP_054205546.1  major facilitator superfamily domain-containing protein 8 isoform X9

    5. XM_054349569.1 → XP_054205544.1  major facilitator superfamily domain-containing protein 8 isoform X7

      UniProtKB/TrEMBL
      A0A286YEX1

    6. XM_054349568.1 → XP_054205543.1  major facilitator superfamily domain-containing protein 8 isoform X6

      UniProtKB/TrEMBL
      A0A286YFM2

    7. XM_054349567.1 → XP_054205542.1  major facilitator superfamily domain-containing protein 8 isoform X5

    8. XM_054349566.1 → XP_054205541.1  major facilitator superfamily domain-containing protein 8 isoform X4

      UniProtKB/TrEMBL
      A0A286YF73

    9. XM_054349572.1 → XP_054205547.1  major facilitator superfamily domain-containing protein 8 isoform X10

      UniProtKB/TrEMBL
      B7Z2B2

    10. XM_054349570.1 → XP_054205545.1  major facilitator superfamily domain-containing protein 8 isoform X8

      UniProtKB/TrEMBL
      A0A286YFC6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHS3.1 GenPept UniProtKB/Swiss-Prot:Q8NHS3

    Gene LinkOut

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