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MFSD12 Gene

protein-coding   GIFtS: 40
GCID: GC19M003539

Major Facilitator Superfamily Domain Containing 12

(Previous name: chromosome 19 open reading frame 28)
(Previous symbol: C19orf28)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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 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   
ORGUL members:         

Export aliases for MFSD12 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MFSD12
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MFS12_HUMAN, Q6NUT3 (See protein sequence)
Recommended Name: Major facilitator superfamily domain-containing protein 12  
Size: 480 amino acids; 52075 Da
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


See MFSD12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001274458.1  NP_778148.2  

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

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


Find genes that share domains with MFSD12           About GenesLikeMe


(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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for MFSD12:
 Synthetic lethal with Ras 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MFSD12
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miRNA
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miRTarBase miRNAs that target MFSD12:
hsa-mir-124-3p (MIRT023143), hsa-mir-26b-5p (MIRT030274), hsa-mir-769-3p (MIRT039106), hsa-mir-484 (MIRT041689)

Block miRNA regulation of human, mouse, rat MFSD12 using miScript Target Protectors
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
MFS12_HUMAN, Q6NUT3: Membrane; Multi-pass membrane protein (Potential)

Gene Ontology (GO): 2 cellular component terms:    About this table

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

Find genes that share ontologies with MFSD12           About GenesLikeMe


(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).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MFSD12
Interactions:

    Search GeneGlobe Interaction Network for MFSD12

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

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

Find genes that share ontologies with MFSD12           About GenesLikeMe



(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)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for MFSD12 gene (4 alternative transcripts): 
NM_001042680.1  NM_021731.2  NM_001287529.1  NM_174983.4  

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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OriGene qPCR primer pairs and template standards for MFSD12
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  QuantiFast Probe-based Assays in human, mouse, rat MFSD12

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.100786676 
DT.40230860  DT.447888  DT.121490112  DT.100708918  DT.100786674  DT.40133168  DT.87015161  DT.102833743 
DT.455695  DT.95075154  DT.95175265 

Selected AceView cDNA sequences (see all 289):

AA417588 BC068439 CR623233 BQ010690 BU076394 NM_174983 BQ027794 AW297966 
AI694388 BI966202 CB529077 AI244284 BX283920 CR601769 BE501180 AI825230 
AI759968 AI913519 BU161681 BI860633 AW451885 AA745682 AI394639 BX282182 

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™, 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)
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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

MFSD12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MFSD12 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.656901
    Custom PCR Arrays for MFSD12
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In Situ
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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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for MFSD12 gene from Selected species (see all 14)    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 83.33(n)1
87.01(a)1
  10 (39.72 cM)5
738221  NM_028657.31  NP_082933.21 
 813574915 
chicken
(Gallus gallus)
Aves C28H19ORF281 chromosome 28 open reading frame, human C19orf28 74.8(n)
72.73(a)
  420074  XM_418193.4  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 mfsd12a6
major facilitator superfamily domain containing 12...
59(a)
1 ↔ 1
2(22538891-22557288) ENSDARG00000061908
mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP0114921 AgaP_AGAP011492 52.74(n)
38.46(a)
  1278368  XM_317809.4  XP_317809.4 
worm
(Caenorhabditis elegans)
Secernentea F16H11.11 F16H11.1 45.36(n)
42.45(a)
  180739  NM_076398.4  NP_508799.1 
rice
(Oryza sativa)
Liliopsida Os03g01680001 Os03g0168000 47.62(n)
35.45(a)
  4331750  NM_001055621.1  NP_001049086.1 


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)
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Paralogs for MFSD12 gene
Selected 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

Find genes that share paralogs with MFSD12           About GenesLikeMe



(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)
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Selected SNPs for MFSD12 (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: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing MFSD12
DNA2.0 Custom Variant and Variant Library Synthesis for MFSD12

(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.)
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  --

(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)
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PubMed articles for MFSD12 gene integrated from 10 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.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. (J. Cell. Biochem. 2012)
  4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
  5. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1 Schroeder B.... Hasilik A. (Traffic 2007)
  6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 126321 HGNC: 28299 AceView: C19orf28 Ensembl:ENSG00000161091 euGenes: HUgn126321
ECgene: MFSD12 H-InvDB: MFSD12

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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.)
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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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)
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 Search Tocris compounds for MFSD12 (MFS12)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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 Browse ESI BIO Cell Lines and PureStem Progenitors for MFSD12
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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MFSD12
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 Search Addgene for plasmids for MFSD12
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  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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