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SLC25A52 Gene

protein-coding   GIFtS: 33
GCID: GC18M029340

Solute Carrier Family 25, Member 52

(Previous name: mitochondrial carrier triple repeat 2)
(Previous symbol: MCART2)
  Search for SLC25A52
at  

(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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Aliases
Solute Carrier Family 25, Member 521 2
MCART21 2 3
Mitochondrial Carrier Triple Repeat 21 2
Mitochondrial Carrier Triple Repeat Protein 22 3
Solute Carrier Family 25 Member 522

External Ids:    HGNC: 233241   Entrez Gene: 1474072   Ensembl: ENSG000001414377   UniProtKB: Q3SY173   

Export aliases for SLC25A52 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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Entrez Gene summary for SLC25A52 Gene:
This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and
may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is
currently classified as a protein-coding locus. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC25A52 Gene:
SLC25A52 (solute carrier family 25, member 52) is a protein-coding gene. An important paralog of this gene is LOC494141.




(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:
NC_000018.10  NC_018929.2  NT_010966.15  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SLC25A52
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A52 promoter sequence
   Search Chromatin IP Primers for SLC25A52

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A52


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

Entrez Gene cytogenetic band: 18q12.1   Ensembl cytogenetic band:  18q12.1   HGNC cytogenetic band: 18q12.1

SLC25A52 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A52 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M029340:  view genomic region     (about GC identifiers)

Start:
29,339,525 bp from pter      End:
29,340,843 bp from pter
Size:
1,319 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: S2552_HUMAN, Q3SY17 (See protein sequence)
Recommended Name: Solute carrier family 25 member 52  
Size: 297 amino acids; 33721 Da

Explore the universe of human proteins at neXtProt for SLC25A52: NX_Q3SY17

Explore proteomics data for SLC25A52 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC25A52 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001029344.3  
    ENSEMBL proteins: 
     ENSP00000372612   ENSP00000462754  

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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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    HGNC Gene Families:
    SLC: Solute carriers

    2 InterPro protein domains:
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q3SY17

    ProtoNet protein and cluster: Q3SY17

    UniProtKB/Swiss-Prot: S2552_HUMAN, Q3SY17
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    SLC25A52 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
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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
    S2552_HUMAN, Q3SY17: Mitochondrion inner membrane; Multi-pass membrane protein (Potential)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral component of membrane IEA--

    SLC25A52 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC25A52
    Interactions:

        Search GeneGlobe Interaction Network for SLC25A52

    Gene Ontology (GO): 1 biological process term:    About this table

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

    SLC25A52 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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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 SLC25A52 (S2552)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC25A52 gene: 
    NM_001034172.2  

    Unigene Cluster for SLC25A52:

    Solute carrier family 25, member 52
    Hs.567708  [show with all ESTs]
    Unigene Representative Sequence: AK302337
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000269205(uc002kxa.2) ENST00000579441
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    Additional mRNA sequence: 

    AK302337.1 BC103999.1 BC104000.1 BC104001.1 

    2 DOTS entries:

    DT.121082810  DT.40259272 

    1 AceView cDNA sequence:

    F27342 

    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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    SLC25A52 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A52 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567708
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    In Situ
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    (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 SLC25A52 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    68(a)
    1 → many
    Z(81430178-81432284)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    72(a)
    1 → many
    GL343201.1(3760700-3761605)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:732281 zgc:73228 62.53(n)
    60.15(a)
      393728  NM_200755.1  NP_957049.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG79436
    --
    39(a)
    1 → many
    3R(25872197-25874387)
    worm
    (Caenorhabditis elegans)
    Secernentea T20D3.56
    Protein T20D3.5 (T20D3.5) mRNA, complete cds
    40(a)
    1 → many
    IV(9337063-9338557) WBGene00011858
            Species with no ortholog for SLC25A52

    ENSEMBL Gene Tree for SLC25A52 (if available)
    TreeFam Gene Tree for SLC25A52 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC25A52 gene
    LOC4941412  SLC25A512  SLC25A532  
    2 SIMAP similar genes for SLC25A52 using alignment to 2 protein entries:     S2552_HUMAN (see all proteins):
    SLC25A51    SLC25A53

    SLC25A52 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), 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 SLC25A52 (see all 97)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2012536511,2
    --29339334(+) CTTCT-/CTCTGGCC 1 -- ds50010--------
    rs711757881,2
    C--29339489(-) TTTTT-/TATCAT 1 -- ds50011Minor allele frequency- T:0.00NA 2
    rs2015141821,2
    --29339503(+) AAAAA-/AAGAAAGA 1 -- ds50010--------
    rs1997478861,2
    --29339504(+) AAAAA-/AGAAAGA 1 -- ds50010--------
    rs1136979421,2
    C--29339505(+) AAAAAA/GAAAGA 1 -- ds50010--------
    rs1451748471,2
    C--29339530(+) AAAAC-/AAAAAA 1 -- ds50010--------
    rs561140141,2
    C--29339592(+) AAGGAA/GAACAG 1 -- ds50010--------
    rs620954601,2
    C,F--29339619(+) CTGTGG/ACCTGG 1 -- ds50012Minor allele frequency- A:0.09NA 122
    rs1179138151,2
    C,F--29339622(+) TGGCCT/CGGAGT 1 -- ds50011Minor allele frequency- C:0.01NA 120
    rs1903804851,2
    --29339642(+) AACTTG/TTATTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC25A52 (29339525 - 29340843 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SLC25A52: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A52
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A52

    (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.)
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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 SLC25A52 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SLC25A52)
        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. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PubMed id 23266187)1 Palmieri F. (Mol. Aspects Med. 2013)
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    4. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (Nature 2005)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 147407 HGNC: 23324 AceView: MCART2 Ensembl:ENSG00000141437 euGenes: HUgn147407
    ECgene: SLC25A52 H-InvDB: SLC25A52

    (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 SLC25A52 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 SLC25A52 gene:
    Search GeneIP for patents involving SLC25A52

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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