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

MFSD12 Gene

protein-coding   GIFtS: 39
GCID: GC19M003539

Major Facilitator Superfamily Domain Containing 12

(Previous name: chromosome 19 open reading frame 28)
(Previous symbol: C19orf28)
  Search for MFSD12
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

Aliases
Major Facilitator Superfamily Domain Containing 121 2
C19orf281 2 3
Chromosome 19 Open Reading Frame 281
PP35012
Major Facilitator Superfamily Domain-Containing Protein 122

External Ids:    HGNC: 282991   Entrez Gene: 1263212   Ensembl: ENSG000001610917   UniProtKB: Q6NUT33   

Export aliases for MFSD12 gene to outside databases


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

GeneCards Summary for MFSD12 Gene: 
MFSD12 (major facilitator superfamily domain containing 12) is a protein-coding 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011255.14  NC_018930.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MFSD12
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MFSD12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFSD12


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

MFSD12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MFSD12 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M003539:  view genomic region     (about GC identifiers)

Start:
3,538,259 bp from pter      End:
3,574,288 bp from pter
Size:
36,030 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MFS12_HUMAN, Q6NUT3 (See protein sequence)
Recommended Name: Major facilitator superfamily domain-containing protein 12  
Size: 480 amino acids; 52075 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: A8MXP7 D6W615 E9PAJ8 Q8N459
Alternative splicing: 4 isoforms:  Q6NUT3-1   Q6NUT3-2   Q6NUT3-3   Q6NUT3-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MFSD12: NX_Q6NUT3

Explore proteomics data for MFSD12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6NUT3

  • MFSD12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MFSD12 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001036145.1  NP_068377.2  NP_778148.2  

    ENSEMBL proteins: 
     ENSP00000374046   ENSP00000381566   ENSP00000467207   ENSP00000347583   ENSP00000467635  
     ENSP00000465302   ENSP00000465782   ENSP00000466906   ENSP00000468287  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0016021integral to membrane IEA--

    MFSD12 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q6NUT3

    ProtoNet protein and cluster: Q6NUT3

    UniProtKB/Swiss-Prot: MFS12_HUMAN, Q6NUT3
    Similarity: Belongs to the major facilitator superfamily


    MFSD12 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for MFSD12:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MFSD12 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MFSD12

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--
    GO:0055085transmembrane transport ----

    MFSD12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 MFSD12 (MFS12)

    Search CenterWatch for drugs/clinical trials and news about MFSD12 / MFS12

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MFSD12 gene (3 alternative transcripts): 
    NM_001042680.1  NM_021731.2  NM_174983.3  

    Unigene Cluster for MFSD12:

    Major facilitator superfamily domain containing 12
    Hs.656901  [show with all ESTs]
    Unigene Representative Sequence: NM_021731
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000389395(uc002lxx.3) ENST00000585788 ENST00000398558(uc002lxw.3)
    ENST00000589157 ENST00000588918 ENST00000355415(uc002lxy.3 uc002lxz.3)
    ENST00000589063 ENST00000589995 ENST00000585814 ENST00000592652 ENST00000591878
    ENST00000588626 ENST00000586402
    miRNA
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    Inhib. RNA
    Products:
         
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    Clone
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    Primer
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    OriGene qPCR primer pairs and template standards for MFSD12
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    Additional mRNA sequence: 

    AF218008.1 BC068439.1 BC094804.1 EU375738.1 

    19 DOTS entries:

    DT.100786677  DT.100030392  DT.95367053  DT.100030391  DT.87015162  DT.452780  DT.121490023  DT.447888 
    DT.100786676  DT.40230860  DT.121490112  DT.100708918  DT.100786674  DT.40133168  DT.87015161  DT.102833743 
    DT.455695  DT.95075154  DT.95175265 

    24/289 AceView cDNA sequences (see all 289):

    BI860633 NM_174983 BE672605 CR623233 CR600462 AA745682 BX282182 AI759968 
    BE501180 BM142205 BX372207 BC068439 BU076394 BG680236 CA433487 AW237082 
    BM930654 CB529077 BQ028273 BQ010690 CR601769 AW025153 AI825230 AI394639 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MFSD12    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c
    SP1:                                                                                          
    SP2:              -                                                                           
    SP3:                                                                                          


    ECgene alternative splicing isoforms for MFSD12

    (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

    MFSD12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCATCCAGA
    MFSD12 Expression
    About this image


    See MFSD12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MFSD12

    SOURCE GeneReport for Unigene cluster: Hs.656901
        SABiosciences Custom PCR Arrays for MFSD12
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFSD12

    (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 eukaryotes.

    Orthologs for MFSD12 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mfsd121 , 5 major facilitator superfamily domain containing 121, 5 82.8(n)1
    86.2(a)1
      10 (39.72 cM)5
    738221  NM_028657.31  NP_082933.21 
     813574915 
    chicken
    (Gallus gallus)
    Aves MFSD121 major facilitator superfamily domain containing 12 74.69(n)
    72.87(a)
      420074  XM_418193.3  XP_418193.3 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.190552 Transcribed sequence with weak similarity to protein more 73.15(n)    CF264453.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mfsd12a1 major facilitator superfamily domain containing 12a 66.59(n)
    66.59(a)
      561964  NM_001044972.1  NP_001038437.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0114921 AGAP011492-PA 51.39(n)
    37.5(a)
      1278368  XM_317809.4  XP_317809.4 
    worm
    (Caenorhabditis elegans)
    Secernentea F16H11.11 Protein F16H11.1 45.34(n)
    42.26(a)
      180739  NM_076398.3  NP_508799.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G442801 major facilitator protein 43.02(n)
    36.32(a)
      819036  NM_001084586.2  NP_001078055.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g05782001 hypothetical protein 44.33(n)
    37.5(a)
      4343712  NM_001066628.1  NP_001060093.1 


    ENSEMBL Gene Tree for MFSD12 (if available)
    TreeFam Gene Tree for MFSD12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MFSD12 gene
    18/21 SIMAP similar genes for MFSD12 using alignment to 6 protein entries:     MFS12_HUMAN (see all proteins) (see all similar genes):
    ARL6IP5    PFKFB3    RRM2B    SMYD4    SH2B3    GALK2
    IRF2    ZNF114    ADCK1    IK    ARIH1    VPS33A
    TAF2    ZNF799    C1orf143    DYNC2LI1    FRG1    COQ5

    MFSD12 for paralogs           About GeneDecksing



    (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) 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

    10/570 SNPs in MFSD12 are shown (see all 570)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1857429671,2
    --3544543(+) CGGGCA/GTCCCT 3 -- int1 ut310--------
    rs1901637471,2
    --3544547(+) CATCCC/TTGCTG 3 -- int1 ut310--------
    rs1817192591,2
    --3544578(+) CGGGAG/TCTGGG 3 -- int1 ut310--------
    rs1436982981,2
    C--3544610(+) CAGAG-/AAGAGTG 3 -- int1 ut310--------
    rs729766201,2
    C,F--3544628(+) AGTGGG/AGGCTT 3 -- int1 ut312Minor allele frequency- A:0.14NA 122
    rs1149474711,2
    C,F--3544634(+) GGCTTT/CTCCCC 3 -- int1 ut311Minor allele frequency- C:0.07WA 118
    rs3728592451,2
    C--3544660(+) ATCCTC/TGTGCG 3 -- int1 ut310--------
    rs1500417171,2
    C,F--3544665(+) CGTGCG/ATCCCC 3 -- int1 ut311Minor allele frequency- A:0.01EU 427
    rs1452387961,2
    C--3544683(+) CCTTGC/TACAGG 3 -- int1 ut310--------
    rs1999704911,2
    --3544701(+) GGCTGG/TCAGGA 3 -- int1 ut310--------

    HapMap Linkage Disequilibrium report for MFSD12 (3538259 - 3574288 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MFSD12: --
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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 MFSD12 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with MFSD12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Novel protein pp3501 mediates the inhibitory effect of sodium butyrate on SH-SY5Y cell proliferation. (PubMed id 22441875)1 Wang Y....Wu J. (2012)
    4. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1 Schroeder B.... Hasilik A. (2007)
    5. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 126321 HGNC: 28299 AceView: C19orf28 Ensembl:ENSG00000161091 euGenes: HUgn126321
    ECgene: MFSD12 H-InvDB: MFSD12

    (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 MFSD12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MFSD12 gene:
    Search GeneIP for patents involving MFSD12

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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 


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