Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MFSD8 Gene

protein-coding   GIFtS: 53
GCID: GC04M128838

Major Facilitator Superfamily Domain Containing 8

(Previous names: ceroid-lipofuscinosis, neuronal 7, late infantile, variant)
(Previous symbol: CLN7)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Major Facilitator Superfamily Domain Containing 81 2     Major Facilitator Superfamily Domain-Containing Protein 82
CLN71 2 3 5     Ceroid-Lipofuscinosis Neuronal Protein 73
Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile, Variant1     MGC333025
Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile2     

External Ids:    HGNC: 284861   Entrez Gene: 2564712   Ensembl: ENSG000001640737   OMIM: 6111245   UniProtKB: Q8NHS33   
ORGUL members:         

Export aliases for MFSD8 gene to outside databases

Previous GC identifers: GC04M129061 GC04M124567


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 aspartylglucosaminuria.

UniProtKB/Swiss-Prot: MFSD8_HUMAN, Q8NHS3
Function: May be a carrier that transport small solutes by using chemiosmotic ion gradients (Potential)

Gene Wiki entry for MFSD8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MFSD8 gene promoter:
         STAT5B   STAT1   STAT4   STAT6   STAT1beta   STAT5A   STAT1alpha   STAT2   STAT3   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MFSD8 promoter sequence
   Search Chromatin IP Primers for MFSD8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MFSD8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q28.2   Ensembl cytogenetic band:  4q28.2   HGNC cytogenetic band: 4q28.2

MFSD8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MFSD8 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M128838:  view genomic region     (about GC identifiers)

Start:
128,838,960 bp from pter      End:
128,887,150 bp from pter
Size:
48,191 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: MFSD8_HUMAN, Q8NHS3 (See protein sequence)
Recommended Name: Major facilitator superfamily domain-containing protein 8  
Size: 518 amino acids; 57628 Da
Secondary accessions: B2RDM1 Q8N2P3

Explore the universe of human proteins at neXtProt for MFSD8: NX_Q8NHS3

Explore proteomics data for MFSD8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn371, Asn376
  • Modification sites at PhosphoSitePlus

  • See MFSD8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689991.1  
    ENSEMBL proteins: 
     ENSP00000296468   ENSP00000425000   ENSP00000421176   ENSP00000439616  

    MFSD8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MFSD8
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MFSD8
    GenScript Custom Purified and Recombinant Proteins Services for MFSD8
    Novus Biologicals MFSD8 Protein
    Novus Biologicals MFSD8 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    MFSD8 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MFSD8
    Novus Biologicals MFSD8 Antibodies
    Abcam antibodies for MFSD8
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for MFSD8
    LSBio Antibodies in human, mouse, rat for MFSD8

    MFSD8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MFSD8
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MFSD8
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    3 InterPro protein domains:
     IPR011701 MFS
     IPR020846 MFS_dom
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q8NHS3

    ProtoNet protein and cluster: Q8NHS3

    UniProtKB/Swiss-Prot: MFSD8_HUMAN, Q8NHS3
    Similarity: Belongs to the major facilitator superfamily


    MFSD8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MFSD8_HUMAN, Q8NHS3
    Function: May be a carrier that transport small solutes by using chemiosmotic ion gradients (Potential)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0022857transmembrane transporter activity ----
         
    MFSD8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MFSD8:
     Decreased TP53 protein express 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MFSD8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MFSD8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MFSD8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MFSD8

    miRNA
    Products:
        
    miRTarBase miRNAs that target MFSD8:
    hsa-mir-200c-3p (MIRT044382)

    Block miRNA regulation of human, mouse, rat MFSD8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MFSD8 (see all 33):
    hsa-miR-26a-2* hsa-let-7d hsa-miR-488 hsa-let-7g hsa-miR-1244 hsa-let-7a hsa-miR-3658 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidMFSD8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MFSD8
    Predesigned siRNA for gene silencing in human, mouse, rat MFSD8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MFSD8

    Clone
    Products:
         
    OriGene clones in human, mouse for MFSD8 (see all 6)
    OriGene ORF clones in mouse, rat for MFSD8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MFSD8 (NM_152778)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MFSD8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFSD8

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MFSD8
    Browse ESI BIO Cell Lines and PureStem Progenitors for MFSD8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFSD8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MFSD8_HUMAN, Q8NHS3: Lysosome membrane; Multi-pass membrane protein. Note=Sorting to lysosomes involves tyrosine-
    and/or dileucine-based motifs
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    nucleus4
    plasma membrane3
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005764lysosome ----
    GO:0005765lysosomal membrane IDA17897319
    GO:0016021integral component of membrane IEA--

    MFSD8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for MFSD8 About    
    See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for MFSD8):
        Lysosome


    MFSD8 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MFSD8
    Interactions:

        Search GeneGlobe Interaction Network for MFSD8

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0055085transmembrane transport IEA--

    MFSD8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MFSD8



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for MFSD8 gene: 
    NM_152778.2  

    Unigene Cluster for MFSD8:

    Major facilitator superfamily domain containing 8
    Hs.480701  [show with all ESTs]
    Unigene Representative Sequence: NM_152778
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296468(uc003ifp.3 uc011cgu.2 uc011cgv.1) ENST00000503928
    ENST00000515130(uc011cgx.1) ENST00000513559(uc011cgw.1) ENST00000504126
    ENST00000505284 ENST00000509826 ENST00000508441 ENST00000541133
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MFSD8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MFSD8 (see all 33):
    hsa-miR-26a-2* hsa-let-7d hsa-miR-488 hsa-let-7g hsa-miR-1244 hsa-let-7a hsa-miR-3658 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidMFSD8 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MFSD8
    Predesigned siRNA for gene silencing in human, mouse, rat MFSD8
    Clone
    Products:
         
    OriGene clones in human, mouse for MFSD8 (see all 6)
    OriGene ORF clones in mouse, rat for MFSD8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MFSD8 (NM_152778)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MFSD8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFSD8
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MFSD8
    OriGene qSTAR qPCR primer pairs in human, mouse for MFSD8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MFSD8
      QuantiTect SYBR Green Assays in human, mouse, rat MFSD8
      QuantiFast Probe-based Assays in human, mouse, rat MFSD8

    Additional mRNA sequence: 

    AF087984.1 AK074564.1 AK294184.1 AK294439.1 AK294527.1 AK294957.1 AK315596.1 BC029503.1 

    6 DOTS entries:

    DT.410199  DT.40314126  DT.100779528  DT.100779529  DT.91745394  DT.95263516 

    Selected AceView cDNA sequences (see all 98):

    AW262486 AA282886 AI810907 BQ722138 W73747 AA764820 AA766655 AW264037 
    AA463502 AA767994 AW291027 W73799 BM128565 BX641670 AF087984 BC029503 
    AI814783 BQ015234 AI200540 NM_152778 BX369521 BM768476 AW611550 BM558412 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MFSD8 (see all 6)    About this scheme

    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:                                            -                                                                           


    ECgene alternative splicing isoforms for MFSD8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    MFSD8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MFSD8 Expression
    About this image

    MFSD8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MFSD8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.480701

    UniProtKB/Swiss-Prot: MFSD8_HUMAN, Q8NHS3
    Tissue specificity: Expressed at very low levels in all tissues tested

        Custom PCR Arrays for MFSD8
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MFSD8
    OriGene qSTAR qPCR primer pairs in human, mouse for MFSD8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MFSD8
    QuantiTect SYBR Green Assays in human, mouse, rat MFSD8
    QuantiFast Probe-based Assays in human, mouse, rat MFSD8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFSD8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for MFSD8 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mfsd81 , 5 major facilitator superfamily domain containing 81, 5 84.04(n)1
    81.66(a)1
      3 (19.55 cM)5
    721751  NM_028140.41  NP_082416.21 
     408180705 
    chicken
    (Gallus gallus)
    Aves MFSD81 major facilitator superfamily domain containing 8 70.87(n)
    70.35(a)
      422498  XM_004941007.1  XP_004941064.1 
    lizard
    (Anolis carolinensis)
    Reptilia MFSD86
    major facilitator superfamily domain containing 8
    66(a)
    1 ↔ 1
    5(136362849-136377180)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mfsd81 major facilitator superfamily domain containing 8 66.47(n)
    65.42(a)
      100495784  XM_002932042.2  XP_002932088.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mfsd81 major facilitator superfamily domain containing 8 63.41(n)
    63.07(a)
      564342  NM_001045048.1  NP_001038513.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG85961 CG8596 47.76(n)
    37.23(a)
      38813  NM_139850.4  NP_648107.3 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F14D7.61 CELE_F14D7.6 47.45(n)
    34.53(a)
      184466  NM_001269646.1  NP_001256575.1 


    ENSEMBL Gene Tree for MFSD8 (if available)
    TreeFam Gene Tree for MFSD8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MFSD8 (see all 984)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0669164
    Ceroid lipofuscinosis, neuronal, 7 (CLN7)4--see VAR_0669162 T N mis40--------
    VAR_0584324
    Ceroid lipofuscinosis, neuronal, 7 (CLN7)4--see VAR_0584322 P L mis40--------
    VAR_0669154
    Ceroid lipofuscinosis, neuronal, 7 (CLN7)4--see VAR_0669152 T I mis40--------
    VAR_0371804
    Ceroid lipofuscinosis, neuronal, 7 (CLN7)4--see VAR_0371802 G D mis40--------
    VAR_0584304
    Ceroid lipofuscinosis, neuronal, 7 (CLN7)4--see VAR_0584302 A P mis40--------
    VAR_0584274
    Ceroid lipofuscinosis, neuronal, 7 (CLN7)4--see VAR_0584272 G R mis40--------
    VAR_0371774
    Ceroid lipofuscinosis, neuronal, 7 (CLN7)4--see VAR_0371772 G D mis40--------
    VAR_0669194
    Ceroid lipofuscinosis, neuronal, 7 (CLN7)4--see VAR_0669192 M V mis40--------
    VAR_0584284
    Ceroid lipofuscinosis, neuronal, 7 (CLN7)4--see VAR_0584282 Y C mis40--------
    VAR_0669184
    Ceroid lipofuscinosis, neuronal, 7 (CLN7)4--see VAR_0669182 R Q mis40--------

    HapMap Linkage Disequilibrium report for MFSD8 (128838960 - 128887150 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MFSD8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2620539CNV Insertion19546169
    nsv512834CNV Insertion21212237
    esv1374529CNV Insertion17803354
    nsv879923CNV Loss21882294
    dgv5711n71CNV Loss21882294
    nsv879915CNV Gain21882294

    Human Gene Mutation Database (HGMD): MFSD8
    Locus Specific Mutation Databases (LSDB): MFSD8

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MFSD8
    DNA2.0 Custom Variant and Variant Library Synthesis for MFSD8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 611124   
    OMIM disorders: 610951  
    UniProtKB/Swiss-Prot: MFSD8_HUMAN, Q8NHS3
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for MFSD8:    
    About MalaCards
    ceroid lipofuscinosis neuronal 7    aspartylglucosaminuria    neuronitis    late-infantile neuronal ceroid lipofuscinosis
    fucosidosis    neuronal ceroid-lipofuscinoses    neuronal ceroid lipofuscinosis    dementia
    multiple myeloma    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for MFSD8:
    Neuronal ceroid lipofuscinosis

    MFSD8 for disorders           About GeneDecksing

    GeneTests: MFSD8
    GeneReviews: MFSD8

    Export disorders for MFSD8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for MFSD8 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with MFSD8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. (PubMed id 17564970)1, 2, 3 Siintola E....Lehesjoki A.-E. (Am. J. Hum. Genet. 2007)
    2. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (PubMed id 19201763)1, 2 Kousi M....Lehesjoki A.-E. (Brain 2009)
    3. A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. (PubMed id 18850119)1, 2 Stogmann E.... Zimprich A. (Neurogenetics 2009)
    4. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. (PubMed id 19177532)1, 2 Aiello C....Santorelli F.M. (Hum. Mutat. 2009)
    5. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (Traffic 2007)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. (PubMed id 21990111)2 Kousi M.... Mole S.E. (Hum. Mutat. 2012)
    8. Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. (PubMed id 20826447)1 Sharifi A....KyttAolAo A. (Hum. Mol. Genet. 2010)
    9. Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif. (PubMed id 20406422)2 Steenhuis P.... Storch S. (Traffic 2010)
    10. Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. (PubMed id 19277732)1 Aldahmesh M.A....Alkuraya F.S. (Neurogenetics 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 256471 HGNC: 28486 AceView: MGC33302 Ensembl:ENSG00000164073 euGenes: HUgn256471
    ECgene: MFSD8 Kegg: 256471 H-InvDB: MFSD8

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for MFSD8 Pharmacogenomics, SNPs, Pathways
    NCL CLN7/MFSD8http://www.ucl.ac.uk/ncl/cln7.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for MFSD8 gene:
    Search GeneIP for patents involving MFSD8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for MFSD8  
     OriGene qPCR primer pairs and template standards for MFSD8   OriGene Protein Over-expression Lysate for MFSD8  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MFSD8  
     OriGene qSTAR qPCR primer pairs in human, mouse for MFSD8   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MFSD8   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MFSD8   OriGene Custom Protein Services for MFSD8  

     
     
     Block miRNA regulation of human, mouse, rat MFSD8 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MFSD8
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MFSD8 Predesigned siRNA for gene silencing in human, mouse, rat MFSD8
     QuantiFast Probe-based Assays in human, mouse, rat MFSD8 QuantiTect SYBR Green Assays in human, mouse, rat MFSD8
     Custom PCR Arrays for MFSD8 Search Chromatin IP Primers for MFSD8
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MFSD8  Search GeneGlobe Interaction Network for MFSD8
     Regulatory tfbs in MFSD8 promoter
     GenScript Custom Purified and Recombinant Proteins Services for MFSD8 GenScript cDNA clones with any tag delivered in your preferred vector for MFSD8
     GenScript Custom Assay Services for MFSD8 GenScript Custom overexpressing Cell Line Services for MFSD8
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for MFSD8
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MFSD8 antibodies
     MFSD8 proteins
     MFSD8 lysates
     Antibodies for MFSD8
     See all of Abcam's Antibodies, Kits and Proteins for MFSD8
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for MFSD8
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFSD8
     SwitchGear 3'UTR luciferase reporter plasmids for MFSD8
     SwitchGear Promoter luciferase reporter plasmids for MFSD8
     Search ThermoFisher Antibodies for MFSD8
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFSD8
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MFSD8
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MFSD8
     LSBio Antibodies in human, mouse, rat for MFSD8
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MFSD8 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4