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

SLC25A4 Gene

protein-coding   GIFtS: 65
GCID: GC04P186064

Solute Carrier Family 25 (Mitochondrial Carrier; Adenine...


(Previous symbols: PEO3, PEO2, ANT1)
Microbiology & Infectious Diseases Congress
  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 (Mitochondrial Carrier; Adenine Nucleotide
Translocator), Member 41 2
     AAC12
ANT11 2 3 5     ANT2
PEO21 2 5     Adenine Nucleotide Translocator 1 (Skeletal Muscle)2
PEO31 2 5     ADP,ATP Carrier Protein, Heart/Skeletal Muscle2
Solute Carrier Family 25 Member 42 3     ADP/ATP Translocase 12
ADP,ATP Carrier Protein 12 3     Heart/Skeletal Muscle ATP/ADP Translocator2
ANT 12 3     Adenine Nucleotide Translocator 13
T12 5     ADP,ATP Carrier Protein, Heart/Skeletal Muscle Isoform T13
12     

External Ids:    HGNC: 109901   Entrez Gene: 2912   Ensembl: ENSG000001517297   OMIM: 1032205   UniProtKB: P122353   

Export aliases for SLC25A4 gene to outside databases

Previous GC identifers: GC04P187100 GC04P186744 GC04P186648 GC04P186760 GC04P186439 GC04P186301 GC04P181818


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

Entrez Gene summary for SLC25A4 Gene:
This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this
gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP
from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner
mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive
external opthalmoplegia and familial hypertrophic cardiomyopathy. (provided by RefSeq, Jun 2013)

GeneCards Summary for SLC25A4 Gene: 
SLC25A4 (solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4) is a protein-coding gene. Diseases associated with SLC25A4 include progressive external ophthalmoplegia with mitochondrial dna deletions 3, and congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy, and among its related super-pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Mitochondrial Apoptosis. GO annotations related to this gene include protein binding and adenine transmembrane transporter activity. An important paralog of this gene is SLC25A31.

UniProtKB/Swiss-Prot: ADT1_HUMAN, P12235
Function: Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane

Gene Wiki entry for SLC25A4 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_000004.11  NC_018915.2  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC25A4 gene promoter:
         Max1   Pax-5   AML1a   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   CUTL1   POU3F2   Zic3   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC25A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A4


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

Entrez Gene cytogenetic band: 4q35   Ensembl cytogenetic band:  4q35.1   HGNC cytogenetic band: 4q35

SLC25A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A4 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P186064:  view genomic region     (about GC identifiers)

Start:
186,064,395 bp from pter      End:
186,071,538 bp from pter
Size:
7,144 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: ADT1_HUMAN, P12235 (See protein sequence)
Recommended Name: ADP/ATP translocase 1  
Size: 298 amino acids; 33064 Da
Subunit: Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with ARL2BP (By similarity). Homodimer.
Interacts with HIV-1 Vpr
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Miscellaneous: The transmembrane helices are not perpendicular to the plane of the membrane, but cross the
membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved
proline residue (By similarity)
Secondary accessions: D3DP59

Explore the universe of human proteins at neXtProt for SLC25A4: NX_P12235

Explore proteomics data for SLC25A4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12235

  • SLC25A4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC25A4 Protein Expression
    REFSEQ proteins: NP_001142.2  
    ENSEMBL proteins: 
     ENSP00000281456  
    Reactome Protein details: P12235
    Human Recombinant Protein Products for SLC25A4: 
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    OriGene Protein Over-expression Lysate for SLC25A4
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    Novus Biologicals SLC25A4 Protein
    Novus Biologicals SLC25A4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS10926541
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005887integral to plasma membrane TAS2823266

    SLC25A4 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Mitochondrial adenine nucleotide translocator 1 
    Mitochondrial adenine nucleotide translocator family

    4 InterPro protein domains:
     IPR002067 Mit_carrier
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier
     IPR002113 Aden_trnslctor

    Graphical View of Domain Structure for InterPro Entry P12235

    ProtoNet protein and cluster: P12235

    2 Blocks protein domains:
    IPB002067 Mitochondrial carrier protein signature
    IPB002113 Adenine nucleotide translocator 1 signature


    UniProtKB/Swiss-Prot: ADT1_HUMAN, P12235
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    SLC25A4 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: ADT1_HUMAN, P12235
    Function: Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16507998
    GO:0015207adenine transmembrane transporter activity TAS2823266
         
    SLC25A4 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Slc25a4):
     cardiovascular system  cellular  homeostasis/metabolism  muscle  normal 

    SLC25A4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc25a4tm2Dwa for SLC25A4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC25A4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC25A4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC25A4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC25A4 

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    SwitchGear 3'UTR luciferase reporter plasmidSLC25A4 3' UTR sequence
    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

    SuperPaths for SLC25A4 About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Electron Transport Chain0.75
    Huntington's disease0.47
    Parkinson's disease0.61
    2Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Cellular Apoptosis Pathway0.85
    3Regulation of Insulin Secretion
    Regulation of Insulin Secretion0.74
    Integration of energy metabolism0.74
    4HIV Life Cycle
    HIV Infection0.61
    Host Interactions of HIV factors0.60
    5Regulation of Glucokinase by Glucokinase Regulatory Protein
    Interactions of Vpr with host cellular proteins0.91

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SLC25A4
        Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SLC25A4
        Mitochondrial Apoptosis
    Cellular Apoptosis Pathway

    1 GeneGo (Thomson Reuters) Pathway for SLC25A4
        Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    3 BioSystems Pathways for SLC25A4
        SIDS Susceptibility Pathways
    Electron Transport Chain
    Synaptic Vesicle Pathway

    5/10        Reactome Pathways for SLC25A4 (see all 10)
        Metabolism
    Interactions of Vpr with host cellular proteins
    Regulation of Insulin Secretion
    Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization
    Integration of energy metabolism

    1 PharmGKB Pathway for SLC25A4
        Benzodiazepine Pathway, Pharmacodynamics

    4         Kegg Pathways  (Kegg details for SLC25A4):
        Calcium signaling pathway
    Parkinson's disease
    Huntington's disease
    HTLV-I infection


    SLC25A4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC25A4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/303 Interacting proteins for SLC25A4 (P122352, 3 ENSP000002814564) via UniProtKB, MINT, STRING, and/or I2D (see all 303)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF1BP203332, 3MINT-49409 I2D: score=2 
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    PPIFP304053, ENSP000002251744I2D: score=4 STRING: ENSP00000225174
    NR3C1P041503, ENSP000002315094I2D: score=2 STRING: ENSP00000231509
    PPIDQ087523, ENSP000003037544I2D: score=2 STRING: ENSP00000303754
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000002mitochondrial genome maintenance TAS10926541
    GO:0006091generation of precursor metabolites and energy TAS2823266
    GO:0006112energy reserve metabolic process TAS--
    GO:0006810transport TAS2823266
    GO:0008637apoptotic mitochondrial changes IEA--

    SLC25A4 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

    SLC25A4 for compounds           About GeneDecksing

    EMD Millipore small molecules for SLC25A4:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC25A4 (ADT1)

    6 DrugBank Compounds for SLC25A4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Carboxyatractyloside-- 33286-30-5target--17139284 17016423 10592235
    CardiolipinCDL (see all 3)--target--17139284 17016423 10592235
    Di-Stearoyl-3-Sn-Phosphatidylcholine-- --target--17139284 17016423 10592235
    Clodronate-- 10596-23-3targetinhibitor11961144 11752352
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17210842
    [3-(Dodecanoylamino)Propyl](Hydroxy)Dimethylammonium-- --target--10592235

    2 IUPHAR Ligands for SLC25A4 (Mitochondrial adenine nucleotide translocator 1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    carboxyatractyloside
    InhibitorInhibition--
    bongkrek acid
    InhibitorInhibition--

    10/16 Novoseek inferred chemical compound relationships for SLC25A4 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ptpc 80.8 5 11175349 (2), 18085536 (1), 12022947 (1)
    adp 75.8 42 12543814 (3), 12149099 (2), 19033201 (2), 16107323 (2) (see all 25)
    carboxyatractyloside 72.2 4 10989667 (1), 12488555 (1)
    mptp 69.9 18 12022946 (4), 18407825 (2), 15033717 (2), 19506320 (2) (see all 9)
    bongkrekic acid 66.8 1 11175349 (1)
    atp 66.1 39 12543814 (3), 16107323 (3), 1885585 (2), 9714750 (2) (see all 28)
    cyclosporin a 52.3 6 11175349 (1), 9714750 (1), 19161974 (1), 15061651 (1)
    phenylarsine oxide 44.8 6 12149099 (4), 12063261 (1)
    diamide 40.3 4 12149099 (4)
    oxygen 23.4 4 19618221 (1), 19452617 (1), 19816693 (1), 9789011 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC25A4 / ADT1

    (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 SLC25A4 gene: 
    NM_001151.3  

    Unigene Cluster for SLC25A4:

    Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
    Hs.246506  [show with all ESTs]
    Unigene Representative Sequence: NM_001151
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000281456(uc003ixd.3) ENST00000515584 ENST00000491736
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC25A4
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    Additional mRNA sequence: 

    AF052119.1 AK291902.1 BC008664.1 BC061589.1 BC063643.1 J02966.1 J03593.1 

    11 DOTS entries:

    DT.456149  DT.97858494  DT.108383  DT.95339307  DT.95182448  DT.121228132  DT.91664547  DT.95339305 
    DT.95339341  DT.100804173  DT.95260663 

    24/256 AceView cDNA sequences (see all 256):

    W58203 BM888019 AI371797 AL582717 AI623284 AY494058 BF794987 AW241654 
    AW082417 AW270736 CR614607 N56781 BC063643 CN482512 BQ214399 BU626041 
    AW611775 AJ711372 BX119262 BC043280 AI718357 CB852773 C04750 BM704620 

    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™, 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

    SLC25A4 expression in normal human tissues (normalized intensities)      SLC25A4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTTGTAT
    SLC25A4 Expression
    About this image


    SLC25A4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Heart (Cardiovascular System)
     
     Skeletal Muscle (Muscoskeletal System)

    See SLC25A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A4

    SOURCE GeneReport for Unigene cluster: Hs.246506
        SABiosciences Expression via Pathway-Focused PCR Arrays including SLC25A4: 
              Parkinson's Disease in human mouse rat
              Mitochondria in human mouse rat
              Huntington's Disease in human mouse rat
              Necrosis in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A4

    (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 SLC25A4 gene from 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a41 , 5 solute carrier family 25 (mitochondrial carrier, adenine more1, 5 91.28(n)1
    95.3(a)1
      8 (26.22 cM)5
    117391  NM_007450.41  NP_031476.31 
     462067975 
    chicken
    (Gallus gallus)
    Aves SLC25A41 solute carrier family 25 (mitochondrial carrier; adenine more 83.45(n)
    93.62(a)
      422546  NM_001006443.1  NP_001006443.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A46
    solute carrier family 25 (mitochondrial carrier; a...
    90(a)
    1 ↔ 1
    5(113006040-113017643)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC756622 hypothetical protein MGC75662 80.9(n)    BC061600.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc25a41 solute carrier family 25 (mitochondrial carrier; adenine more 77.78(n)
    88.89(a)
      327067  NM_214702.1  NP_999867.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sesB1 , 3 carrier3
    stress-sensitive B1
    79(a)
    (best of 2)3
    74(n)1
    81.1(a)1
      320071  NM_167246.11  NP_727448.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K01H12.23 ADP/ATP carrier protein 69(a)
    (best of 6)
      IV(9708187-9709272)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AAC16
    AAC36
    (see all 3)
    Mitochondrial inner membrane ADP/ATP translocator,...
    Mitochondrial inner membrane ADP/ATP translocator,...
    (see all 3)
    50(a)
    49(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    XIII(387315-388244)
    II(415983-416906)
    corn
    (Zea mays)
    Liliopsida X59086.12   -- 74.57(n)    X59086.1 


    ENSEMBL Gene Tree for SLC25A4 (if available)
    TreeFam Gene Tree for SLC25A4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC25A4 gene
    SLC25A312  SLC25A62  SLC25A52  
    8 SIMAP similar genes for SLC25A4 using alignment to 1 protein entry:     ADT1_HUMAN:
    SLC25A5    SLC25A6    SLC25A31    SLC25A24    SLC25A42    SLC25A23
    SLC25A25    SLC25A16

    SLC25A4 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

    10/209 SNPs in SLC25A4 are shown (see all 209)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0388144
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)4--see VAR_0388142 A D mis40--------
    VAR_0121114
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)4--see VAR_0121112 A P mis40--------
    VAR_0121124
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)4--see VAR_0121122 V M mis40--------
    VAR_0224594
    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)4--see VAR_0224592 L P mis40--------
    rs289991141,2,4
    CProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)4 pathogenic1185827652(+) TGTGGA/GTCGGC 2 D G mis1 ese30--------
    rs1048938761,2
    Cpathogenic1185827634(+) GCAGCC/TCTTCT 2 P L mis10--------
    rs1048938731,2
    Cpathogenic1185827681(+) ACTTTC/GCTGGT 2 P A mis10--------
    rs1219126831,2
    Cpathogenic1185827709(+) GGCCGC/ATGGGG 2 /D /A mis11Minor allele frequency- A:0.00EU 1289
    rs1048938741,2
    Cpathogenic1185829628(+) TATTGA/GTGTTG 2 M V mis10--------
    VAR_0388154
    ----see VAR_0388152 A D mis40--------

    HapMap Linkage Disequilibrium report for SLC25A4 (186064395 - 186071538 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SLC25A4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv461859CNV Loss19166990


    Human Gene Mutation Database (HGMD): SLC25A4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A4
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 103220   
    OMIM disorders: 609283  192600  
    UniProtKB/Swiss-Prot: ADT1_HUMAN, P12235
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)
    [MIM:609283]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper
    eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or
    proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and
    atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other
    symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include
    cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/37 diseases for SLC25A4 (see all 37):    About MalaCards
    progressive external ophthalmoplegia with mitochondrial dna deletions 3    congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy    progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2    facioscapulohumeral muscular dystrophy
    caveolinopathies    autosomal dominant progressive external ophthalmoplegia    diabetic polyneuropathy    ophthalmoplegia
    chronic progressive external ophthalmoplegia    hypertrophic cardiomyopathy    familial hypertrophic cardiomyopathy    agnosia
    axonal neuropathy    acute monocytic leukemia    mitochondrial disorders    rett syndrome
    monocytic leukemia    lactic acidosis    polyneuropathy    dilated cardiomyopathy

    2 diseases from the University of Copenhagen DISEASES database for SLC25A4:
    Chronic progressive external ophthalmoplegia     Ophthalmoplegia

    SLC25A4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/11 Novoseek inferred disease relationships for SLC25A4 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    progressive external ophthalmoplegia 91.8 7 14557557 (1), 15792871 (1), 16203679 (1), 16303948 (1) (see all 7)
    sengers syndrome 88.2 1 16203679 (1)
    muscular dystrophy facioscapulohumeral 80.7 1 16203679 (1)
    mitochondrial diseases 76.2 2 20438629 (1), 16203679 (1)
    mitochondrial myopathies 70.1 1 16303948 (1)
    dilated cardiomyopathy 19.6 1 16107323 (1)
    cardiomyopathy 18.8 1 16303948 (1)
    tumors 2.77 3 18522758 (3)
    bipolar disorder 0.119 1 12565915 (1)
    necrosis 0 1 19506320 (1)

    Genetic Association Database (GAD): SLC25A4
    Human Genome Epidemiology (HuGE) Navigator: SLC25A4 (4 documents)

    Export disorders for SLC25A4 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 SLC25A4 gene, integrated from 9 sources (see all 219):
    (articles sorted by number of sources associating them with SLC25A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. (PubMed id 18575922)1, 2, 4, 9 Virgilio R....Comi G.P. (2008)
    2. A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. (PubMed id 11756613)1, 2, 9 Napoli L....Comi G.P. (2001)
    3. Assignment of the human muscle adenine nucleotide translocator gene (ANT1) to 4q35 by fluorescence in situ hybridization. (PubMed id 1582253)1, 3, 9 Fan Y.S....Lin C.C. (1992)
    4. A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. (PubMed id 15792871)1, 2, 9 Deschauer M....Zierz S. (2005)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    6. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (PubMed id 20843780)1, 2 Wang W....Scharfe C. (2010)
    7. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. (PubMed id 17420318)1, 4 Hudson G.... Chinnery P.F. (2007)
    8. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. (PubMed id 16155110)1, 2 Palmieri L.... Zeviani M. (2005)
    9. Mitochondrial membrane permeabilization by HIV-1 Vpr. (PubMed id 16120388)1, 2 Deniaud A.... Kroemer G. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 291 HGNC: 10990 AceView: SLC25A4 Ensembl:ENSG00000151729 euGenes: HUgn291
    ECgene: SLC25A4 Kegg: 291 H-InvDB: SLC25A4

    (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 SLC25A4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC25A4 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC25A4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC25A4 gene:
    Search GeneIP for patents involving SLC25A4

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



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