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SLC25A46 Gene

protein-coding   GIFtS: 50
GCID: GC05P110103

Solute Carrier Family 25, Member 46

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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): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Solute Carrier Family 25, Member 461 2
Solute Carrier Family 25 Member 462
TB13

External Ids:    HGNC: 251981   Entrez Gene: 911372   Ensembl: ENSG000001642097   OMIM: 6108265   UniProtKB: Q96AG33   
ORGUL members:         

Export aliases for SLC25A46 gene to outside databases

Previous GC identifer: GC05P105253


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC25A46 Gene:
SLC25A46 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 (PubMed
16949250)).(supplied by OMIM, Mar 2008)

GeneCards Summary for SLC25A46 Gene:
SLC25A46 (solute carrier family 25, member 46) 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_000005.9  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A46 gene promoter:
         AhR   Bach1   HSF1 (long)   Arnt   CREB   FOXJ2 (long isoform)   HSF1short   SEF-1 (1)   FOXJ2   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A46 promoter sequence
   Search Chromatin IP Primers for SLC25A46

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A46


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

Entrez Gene cytogenetic band: 5q22.1   Ensembl cytogenetic band:  5q22.1   HGNC cytogenetic band: 5q22.1

SLC25A46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A46 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P110103:  view genomic region     (about GC identifiers)

Start:
110,073,837 bp from pter      End:
110,100,857 bp from pter
Size:
27,021 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: S2546_HUMAN, Q96AG3 (See protein sequence)
Recommended Name: Solute carrier family 25 member 46  
Size: 418 amino acids; 46174 Da
Sequence caution: Sequence=AAA03587.1; Type=Erroneous initiation;
Secondary accessions: A8K2F2 D3DSZ6 Q04197

Explore the universe of human proteins at neXtProt for SLC25A46: NX_Q96AG3

Explore proteomics data for SLC25A46 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys197
  • Modification sites at PhosphoSitePlus

  • See SLC25A46 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_620128.1  
    ENSEMBL proteins: 
     ENSP00000421134   ENSP00000348211   ENSP00000399717   ENSP00000425708   ENSP00000426604  
     ENSP00000424136  

    SLC25A46 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SLC25A46

     
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    antibodies-online proteins for SLC25A46 (2 products) 

     
    antibodies-online peptides for SLC25A46

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    antibodies-online antibodies for SLC25A46 (9 products) 

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    antibodies-online kits for SLC25A46 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: SLC25A46
    Miscellaneous SLC25 mitochondrial transporters

    2 InterPro protein domains:
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q96AG3

    ProtoNet protein and cluster: Q96AG3

    UniProtKB/Swiss-Prot: S2546_HUMAN, Q96AG3
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 2 Solcar repeats


    Find genes that share domains with SLC25A46           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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with SLC25A46           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC25A46:
     Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC25A46
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    miRNA
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    miRTarBase miRNAs that target SLC25A46:
    hsa-mir-744-5p (MIRT037734), hsa-mir-96-5p (MIRT027893)

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    2 qRT-PCR Assays for microRNAs that regulate SLC25A46:
    hsa-miR-433 hsa-miR-548m
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A46


    (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
    S2546_HUMAN, Q96AG3: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SLC25A46           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 SLC25A46
    Interactions:

        Search GeneGlobe Interaction Network for SLC25A46

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SLC25A46 (ENSP000003482114) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    CRIPTENSP000002388924STRING: ENSP00000238892
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--
    GO:0008150biological_process ND--

    Find genes that share ontologies with SLC25A46           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 SLC25A46 (S2546)



    (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 SLC25A46 gene: 
    NM_138773.1  

    Unigene Cluster for SLC25A46:

    Solute carrier family 25, member 46
    Hs.75639  [show with all ESTs]
    Unigene Representative Sequence: BX648087
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000508781 ENST00000513807 ENST00000355943(uc003koz.3) ENST00000447245
    ENST00000504098(uc011cvi.2) ENST00000502462 ENST00000513706 ENST00000509432
    ENST00000509442
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate SLC25A46:
    hsa-miR-433 hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A46 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC25A46
      QuantiTect SYBR Green Assays in human, mouse, rat SLC25A46
      QuantiFast Probe-based Assays in human, mouse, rat SLC25A46

    Additional mRNA sequence: 

    AK091427.1 AK290217.1 AK300116.1 AK300123.1 AK302326.1 BC017169.1 BX648087.1 M74089.1 

    13 DOTS entries:

    DT.315104  DT.100794918  DT.40299741  DT.443420  DT.95358277  DT.100677065  DT.100727237  DT.100794925 
    DT.91926953  DT.99979985  DT.120801183  DT.120801225  DT.97868796 

    Selected AceView cDNA sequences (see all 236):

    BM720286 AA827252 AA742232 BX487852 AW072743 BP342217 NM_138773 BQ213661 
    BM128546 AU122860 CK822545 BM128713 BU182846 BM128559 AW262974 D54215 
    BM699547 AA846553 AI554413 BP373377 AU138435 AU139383 AV707777 BC017169 

    GeneLoc Exon Structure


    (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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    SLC25A46 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAATTACTA
    SLC25A46 Expression
    About this image

    SLC25A46 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A46 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75639
        Custom PCR Arrays for SLC25A46
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A46

    (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 animals.

    Orthologs for SLC25A46 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a461 , 5 solute carrier family 25, member 461, 5 87.88(n)1
    89(a)1
      18 (17.79 cM)5
    674531  NM_026165.31  NP_080441.11 
     315801685 
    chicken
    (Gallus gallus)
    Aves SLC25A461 solute carrier family 25, member 46 79.31(n)
    81.03(a)
      415610  NM_001007830.1  NP_001007831.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A466
    solute carrier family 25, member 46
    81(a)
    1 ↔ 1
    GL343193.1(6164864-6183683)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480280592   -- 82.56(n)    48028059 
    zebrafish
    (Danio rerio)
    Actinopterygii slc25a461 solute carrier family 25, member 46 69.44(n)
    75(a)
      436831  NM_001002558.1  NP_001002558.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG89311 CG8931 49.47(n)
    40.38(a)
      32564  NM_132868.4  NP_573096.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y40B1B.81 Y40B1B.8 49.84(n)
    34.75(a)
      173212  NM_060963.6  NP_493364.1 


    ENSEMBL Gene Tree for SLC25A46 (if available)
    TreeFam Gene Tree for SLC25A46 (if available)

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

    (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 SLC25A46 (see all 531)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1996332291,2
    --110072974(+) AATAA-/ATTATTAA 1 -- us2k10--------
    rs106014811,2
    C--110072977(+) aaatt-/ATTA  
            
    atcaa
    1 -- us2k10--------
    rs1139874411,2
    C,F--110073048(+) GCCATA/TAACAT 1 -- us2k12Minor allele frequency- T:0.06WA 120
    rs1499051481,2
    --110073087(+) AAAAAA/GCCCCT 1 -- us2k10--------
    rs1152449241,2
    F--110073115(+) TTTTGG/AAGTCA 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1440303391,2
    --110073190(+) TGTTTC/TATATC 1 -- us2k10--------
    rs1486738871,2
    --110073314(+) GTAAAC/GGACTT 1 -- us2k10--------
    rs1422104521,2
    --110073408(+) TTATTC/TATTGG 1 -- us2k10--------
    rs1478435941,2
    C--110073489(+) GTGATC/TTGCCT 1 -- us2k10--------
    rs768402251,2
    C--110073519(+) TATTTA/TAAAAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC25A46 (110073837 - 110100857 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLC25A46:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv272991CNV Insertion20981092
    esv268465CNV Insertion20981092
    nsv525752CNV Loss19592680
    nsv830446CNV Loss17160897
    dgv1839e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): SLC25A46
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A46
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A46

    (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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    OMIM gene information: 610826    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for SLC25A46:
    Atopic dermatitis

    Find genes that share disorders with SLC25A46           About GenesLikeMe

    Genetic Association Database (GAD): SLC25A46
    Human Genome Epidemiology (HuGE) Navigator: SLC25A46 (2 documents)

    Export disorders for SLC25A46 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)
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    PubMed articles for SLC25A46 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with SLC25A46)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PubMed id 16949250)1, 2, 3 Haitina T.... Fredriksson R. (Genomics 2006)
    2. Identification of FAP locus genes from chromosome 5q21. (PubMed id 1651562)1, 2, 3 Kinzler K.W.... Nakamura Y. (Science 1991)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. (PubMed id 19584346)1, 4 Vasan R.S....Blankenberg S. (JAMA 2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. (PubMed id 1651563)1, 3 Nishisho I.... Vogelstein B. (Science 1991)
    7. Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis. (PubMed id 23879873)1 Parry H.M....Lang C.C. (Cardiovasc Diabetol 2013)
    8. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PubMed id 23266187)1 Palmieri F. (Mol. Aspects Med. 2013)
    9. Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. (PubMed id 23817571)1 BA... . (Nat. Genet. 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (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: 91137 HGNC: 25198 AceView: LOC91137 Ensembl:ENSG00000164209 euGenes: HUgn91137
    ECgene: SLC25A46 H-InvDB: SLC25A46

    (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 SLC25A46 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 SLC25A46 gene:
    Search GeneIP for patents involving SLC25A46

    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, antibodies-online, 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
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