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

SLC25A47 Gene

protein-coding   GIFtS: 48
GCID: GC14P101163

Solute Carrier Family 25, Member 47

(Previous name: chromosome 14 open reading frame 68)
(Previous symbol: C14orf68)
  See related diseases
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
Solute Carrier Family 25, Member 471 2     Chromosome 14 Open Reading Frame 681
C14orf681 2 3 5     HCC-Down-Regulated Mitochondrial Carrier Protein2
HDMCP2 3 5     Hepatocellular Carcinoma-Downregulated Mitochondrial Carrier Protein2
Hepatocellular Carcinoma Down-Regulated Mitochondrial Carrier Protein2 3     Solute Carrier Family 25 Member 472

External Ids:    HGNC: 201151   Entrez Gene: 2836002   Ensembl: ENSG000001401077   OMIM: 6099115   UniProtKB: Q6Q0C13   

Export aliases for SLC25A47 gene to outside databases

Previous GC identifers: GC14P101010 GC14P080971 GC14P101022 GC14P101033 GC14P101047 GC14P101077 GC14P101114


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

GeneCards Summary for SLC25A47 Gene: 
SLC25A47 (solute carrier family 25, member 47) is a protein-coding gene. Diseases associated with SLC25A47 include hepatocellular carcinoma, and hepatoblastoma. An important paralog of this gene is SLC25A45.

UniProtKB/Swiss-Prot: S2547_HUMAN, Q6Q0C1
Function: Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces
the dissipation of mitochondrial membrane potential




(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_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SLC25A47
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SLC25A47

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A47


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

Entrez Gene cytogenetic band: 14q32.2   Ensembl cytogenetic band:  14q32.2   HGNC cytogenetic band: 14q32.2

SLC25A47 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A47 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P101163:  view genomic region     (about GC identifiers)

Start:
100,789,674 bp from pter      End:
100,796,715 bp from pter
Size:
7,042 bases      Orientation:
plus 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: S2547_HUMAN, Q6Q0C1 (See protein sequence)
Recommended Name: Solute carrier family 25 member 47  
Size: 308 amino acids; 33435 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAD38636.1; Type=Erroneous translation; Note=Wrong choice of frame;
Sequence=CAD62588.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B2RP39 Q68CL2 Q6PZD8 Q86U14
Alternative splicing: 2 isoforms:  Q6Q0C1-1   Q6Q0C1-2   

Explore the universe of human proteins at neXtProt for SLC25A47: NX_Q6Q0C1

Explore proteomics data for SLC25A47 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6Q0C1

  • SLC25A47 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC25A47 Protein Expression
    REFSEQ proteins: NP_997000.2  
    ENSEMBL proteins: 
     ENSP00000354886   ENSP00000451078  

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    Novus Biologicals SLC25A47 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SLC25A47 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral to membrane IEA--

    SLC25A47 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
    HGNC Gene Families: 
    SLC: Solute carriers

    3 InterPro protein domains:
     IPR002067 Mit_carrier
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q6Q0C1

    ProtoNet protein and cluster: Q6Q0C1

    UniProtKB/Swiss-Prot: S2547_HUMAN, Q6Q0C1
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    SLC25A47 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S2547_HUMAN, Q6Q0C1
    Function: Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces
    the dissipation of mitochondrial membrane potential
    Induction: Down-regulated in hepatocarcinoma

    Phenotypes:
         1 GenomeRNAi human phenotype for SLC25A47:

     Increased gamma-H2AX phosphory 

    Animal Models:
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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 SLC25A47

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for SLC25A47 (ENSP000003548864) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NOP56ENSP000003705894STRING: ENSP00000370589
    C1QAENSP000003637734STRING: ENSP00000363773
    DIABLOENSP000002671694STRING: ENSP00000267169
    About this table

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

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

    SLC25A47 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 SLC25A47 (S2547)

    Search CenterWatch for drugs/clinical trials and news about SLC25A47 / S2547

    (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 SLC25A47 gene: 
    NM_207117.2  

    Unigene Cluster for SLC25A47:

    Solute carrier family 25, member 47
    Hs.108268  [show with all ESTs]
    Unigene Representative Sequence: AY569438
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361529(uc001yhc.3 uc001yhd.3) ENST00000557052
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB073385.1 AK092001.1 AY569438.1 AY570298.1 BC137253.1 BC137254.1 BC144549.1 BX248260.1 

    4 DOTS entries:

    DT.99998920  DT.100643803  DT.120776516  DT.120776523 

    24/28 AceView cDNA sequences (see all 28):

    H59765 AY570298 BX444082 AY569438 CR607410 BX248260 NM_207117 CR624455 
    BX445867 BX452434 BX450786 BX443918 H57059 BX450401 H59766 AB073385 
    AK092001 BX447978 BX429963 AX747302 H65661 BX106119 AI033511 H65662 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A47    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
    SP1:                    -                           
    SP2:                                                


    ECgene alternative splicing isoforms for SLC25A47

    (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

    SLC25A47 expression in normal human tissues (normalized intensities)      SLC25A47 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC25A47 Expression
    About this image


    SLC25A47 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Kidney (Urinary System)
             renal vesicle e12.5   

    See SLC25A47 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A47

    SOURCE GeneReport for Unigene cluster: Hs.108268

    UniProtKB/Swiss-Prot: S2547_HUMAN, Q6Q0C1
    Tissue specificity: Specifically expressed in liver

        SABiosciences Custom PCR Arrays for SLC25A47
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A47

    (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 and fungi.

    Orthologs for SLC25A47 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a471 , 5 solute carrier family 25, member 471, 5 83.33(n)1
    88.31(a)1
      12 (59.65 cM)5
    1049101  NM_001012310.21  NP_001012310.21 
     1088511295 
    chicken
    (Gallus gallus)
    Aves SLC25A471 solute carrier family 25, member 47 64.69(n)
    63.99(a)
      423457  XM_421367.3  XP_421367.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A476
    Uncharacterized protein
    58(a)
    1 ↔ 1
    GL343270.1(928398-934997)
    zebrafish
    (Danio rerio)
    Actinopterygii slc25a47b1 solute carrier family 25, member 47b 58.45(n)
    57.04(a)
      100006442  NM_001089581.1  NP_001083050.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG56466
    --
    29(a)
    1 → many
    3R(23385101-23387041)
    worm
    (Caenorhabditis elegans)
    Secernentea R07B7.106
    Protein R07B7.10
    32(a)
    1 → many
    V(12084426-12086328)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YMC16
    YMC26
    Mitochondrial protein, putative inner membrane tra...
    Mitochondrial protein, putative inner membrane tra...
    26(a)
    25(a)
    many ↔ many
    many ↔ many
    XVI(673751-674674)
    II(449667-450656)


    ENSEMBL Gene Tree for SLC25A47 (if available)
    TreeFam Gene Tree for SLC25A47 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC25A47 gene
    SLC25A452  SLC25A202  SLC25A482  SLC25A292  
    10 SIMAP similar genes for SLC25A47 using alignment to 2 protein entries:     S2547_HUMAN (see all proteins):
    SLC25A48    FLJ00351    LOC283130    SLC25A45    SLC25A29    UCP2
    SLC25A1    SLC25A11    SLC25A20    SLC25A15

    SLC25A47 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC25A47
    PGOHUM00000261833


    (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

    10/305 SNPs in SLC25A47 are shown (see all 305)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1173075271,2
    C,Funtested1100793550(+) CCTCTC/G/TGCTGC 2 S L mis11EA 120
    rs1456868991,2
    --100787714(+) CACAGA/GACTGG 1 -- us2k10--------
    rs1834111301,2
    --100787939(+) AAGTCC/TCAGCT 1 -- us2k10--------
    rs71416341,2
    C,F,A--100788014(+) GCAGCA/CTTAGC 1 -- us2k18Minor allele frequency- C:0.25NA WA CSA EA 368
    rs556886881,2
    C,F--100788051(+) ACGCCC/TGGACT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1470618831,2
    C--100788066(+) CCTGCA/GTGGTC 1 -- us2k10--------
    rs1865315341,2
    --100788104(+) TTTCAC/TGGATG 1 -- us2k10--------
    rs1381529381,2
    --100788149(+) CCCACA/GGTCTC 1 -- us2k10--------
    rs356179681,2
    C,F--100788223(+) TCATCC/ACCTTG 1 -- us2k17Minor allele frequency- A:0.19NA WA EA 366
    rs1114848881,2
    F--100788231(+) TTGAGG/AGCCAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for SLC25A47 (100789674 - 100796715 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SLC25A47:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832875CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A47
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A47

    (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
    OMIM gene information: 609911    OMIM disorders: --

    2 diseases for SLC25A47:    About MalaCards
    hepatocellular carcinoma    hepatoblastoma


    SLC25A47 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC25A47
    Human Genome Epidemiology (HuGE) Navigator: SLC25A47 (1 document)

    Export disorders for SLC25A47 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 SLC25A47 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SLC25A47)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and identification of hepatocellular carcinoma down-regulated mitochondrial carrier protein, a novel liver-specific uncoupling protein. (PubMed id 15322095)1, 2, 9 Tan M.G.K.... Hui K.M. (2004)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PubMed id 15221005)1, 2 Yamada S....Nakagawara A. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The mitochondrial transporter family SLC25: identifica tion, properties and physiopathology. (PubMed id 23266187)1 Palmieri F. (2013)
    6. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    7. HDMCP uncouples yeast mitochondrial respiration and a lleviates steatosis in L02 and hepG2 cells by decreasing ATP and H2O2 levels: a novel mechanism for NAFLD. (PubMed id 19303656)1 Jin X....Li Y.M. (2009)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. 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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 283600 HGNC: 20115 AceView: C14orf68 Ensembl:ENSG00000140107 euGenes: HUgn283600
    ECgene: SLC25A47 H-InvDB: SLC25A47

    (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 SLC25A47 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 SLC25A47 gene:
    Search GeneIP for patents involving SLC25A47

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



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