Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MFSD8 Gene

protein-coding   GIFtS: 50
GCID: GC04M128838

major facilitator superfamily domain containing 8

(Previous names: ceroid-lipofuscinosis, neuronal 7, late infantile, variant...)
(Previous symbol: CLN7)
 Explore 8 diseases affiliated with
MFSD8 via our new
 Human Malady Compendium 
Biological research products
for MFSD8
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Major Facilitator Superfamily Domain Containing 81 2     Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile, Variant1
CLN71 2 3     Ceroid-Lipofuscinosis, Neuronal 7, Late Infantile2
Ceroid-Lipofuscinosis Neuronal Protein 72 3     Major Facilitator Superfamily Domain-Containing Protein 82
MGC333021 5     

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

Export aliases for MFSD8 gene to outside databases

Previous GC identifers: GC04M129061 GC04M124567


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

Entrez Gene summary for MFSD8:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MFSD8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NHS3

  • MFSD8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    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: MFSD8
    OriGene Custom Protein Services for MFSD8 
    GenScript Custom Purified and Recombinant Proteins Services for MFSD8
    Novus Biologicals MFSD8 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MFSD8

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005765lysosomal membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--


    MFSD8 for ontologies           About GeneDecksing



    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 
    GenScript Custom Superior Antibodies Services for MFSD8
    Novus Biologicals MFSD8 Antibodies
    Search for Antibodies for MFSD8 at Abcam  
    Uscn Antibodies for MFSD8
    Search ThermoFisher Antibodies for MFSD8

    Assay Products for MFSD8: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MFSD8
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for MFSD8


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

    MFSD8 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

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

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: MFSD8
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MFSD8
    8/33 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MFSD8 (see all 7)
    OriGene shRNA RFP: MFSD8
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MFSD8

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

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MFSD8 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Search LifeMap BioReagents cell lines for MFSD8

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFSD8

    1 GenomeRNAi human phenotype for MFSD8:
     Decreased TP53 protein express 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysosome
    Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for MFSD8):
        Lysosome


    MFSD8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MFSD8

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MFSD8
    Search CenterWatch for drugs/clinical trials and news about MFSD8 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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:
         
    OriGene 3'-UTR Clone: MFSD8
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MFSD8
    8/33 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MFSD8 (see all 7)
    OriGene shRNA RFP: MFSD8
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MFSD8
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MFSD8 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for MFSD8
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MFSD8
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MFSD8
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MFSD8

    Additional cDNA 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 

    24/98 AceView cDNA sequences (see all 98):

    AI493035 AA767994 W73747 W73799 AA730274 NM_152778 AI200540 AW611550 
    BQ015234 BM995732 BM558412 BX369521 AW264037 AW291027 AW262486 AA983324 
    BQ722138 AI810907 BF001990 BM768476 AI767158 AA766655 BC029503 AA764820 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MFSD8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MFSD8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MFSD8

    SOURCE GeneReport for Unigene cluster: Hs.480701

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

        SABiosciences Custom PCR Arrays for MFSD8
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MFSD8
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MFSD8
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MFSD8
    QIAGEN 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

    This gene was present in the common ancestor of animals.

    Orthologs for MFSD8 gene from 6/19 species (see all 19)    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 83.98(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 70.99(n)
    70.54(a)
      422498  XM_420463.2  XP_420463.1 
    lizard
    (Anolis carolinensis)
    Reptilia MFSD86
    --
    64(a)
    1 ↔ 1
    5(136362855-136377168)
    zebrafish
    (Danio rerio)
    Actinopterygii mfsd81 major facilitator superfamily domain containing 8 63.47(n)
    63.07(a)
      564342  NM_001045048.1  NP_001038513.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG85961 CG8596 48.2(n)
    37.23(a)
      38813  NM_139850.3  NP_648107.3 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F14D7.61 Protein F14D7.6 47.9(n)
    35.31(a)
      184466  NM_074143.3  NP_506544.2 


    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
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MFSD8
         1 CNV: 33973
         1 Indel: 98879
    Human Gene Mutation Database (HGMD): MFSD8

    Locus Specific Mutation Databases (LSDB): MFSD8
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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

    MFSD8 for disorders           About GeneDecksing

    OMIM gene information: 611124   
    OMIM disorders: 610951  
    UniProtKB/Swiss-Prot: MFSD8_HUMAN, Q8NHS3
  • Defects in MFSD8 are the cause of neuronal ceroid lipofuscinosis type 7 (CLN7) [MIM:610951]. A form of late
  • infantile neuronal ceroid lipofuscinosis. CNL are a clinically and genetically heterogeneous group of
    neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage
    material in different patterns ultrastructurally. The patterns most often observed CLN7 are mixed combinations of
    granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia,
    seizures, and progressive visual failure

    8 diseases for MFSD8:    About MalaCards
    ceroid lipofuscinosis neuronal 7    ceroid lipofuscinosis    neuronal ceroid-lipofuscinoses    neuronitis
    neuronal ceroid-lipofuscinosis    aspartylglucosaminuria    fucosidosis    dementia

    2 diseases from the University of Copenhagen DISEASES database for MFSD8:
    Neuronal ceroid lipofuscinosis     Fucosidosis
    GeneTests: MFSD8
    Neuronal Ceroid-Lipofuscinoses


    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

    PubMed articles for MFSD8 gene, integrated from 9 sources (see all 19):
    (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. (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. (2009)
    3. A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. (PubMed id 18850119)1, 2 Stogmann E.... Zimprich A. (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. (2009)
    5. 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. (2011)
    6. Expression and lysosomal targeting of CLN7, a major f acilitator superfamily transporter associated with variant late-infantile neuro nal ceroid lipofuscinosis. (PubMed id 20826447)1 Sharifi A....KyttAolAo A. (2010)
    7. Neuronal ceroid lipofuscinosis caused by MFSD8 mutati ons: a common theme emerging. (PubMed id 19277732)1 Aldahmesh M.A....Alkuraya F.S. (2009)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)2 Schroeder B.... Hasilik A. (2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 256471 HGNC: 28486 AceView: MGC33302 Ensembl:ENSG00000164073 euGenes: HUgn256471
    ECgene: MFSD8 Kegg: 256471 H-InvDB: MFSD8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for MFSD8  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MFSD8   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MFSD8  
     OriGene Protein Over-expression Lysate for MFSD8   Browse OriGene Fluorogenic Cell Assay Kits  
     Browse OriGene siRNAs   OriGene 3'-UTR Clone for MFSD8  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MFSD8   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MFSD8  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MFSD8   OriGene Custom Protein Services for MFSD8  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MFSD8
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MFSD8
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFSD8
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MFSD8
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MFSD8
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MFSD8
     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 Superior Antibodies 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

     Regulatory tfbs in MFSD8 promoter
     Search Chromatin IP Primers for MFSD8
     RT2 qPCR Primer Assay in human, mouse, rat MFSD8
     Search GNC Networks for MFSD8
     SABiosciences Custom PCR Arrays for MFSD8
     Search Tocris compounds for MFSD8
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     MFSD8 antibodies
     MFSD8 lysates
     Search for Antibodies for MFSD8 at Abcam
     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




     MFSD8 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines 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
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4