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SLC25A23 Gene

protein-coding   GIFtS: 52
GCID: GC19M006436

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

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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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Aliases
Solute Carrier Family 25 (Mitochondrial Carrier; Phosphate Carrier),
Member 231 2
     MCSC22 3
Mitochondrial ATP-Mg/Pi Carrier Protein 22 3     SCaMC-32
Mitochondrial Ca(2+)-Dependent Solute Carrier Protein 22 3     Calcium-Binding Mitochondrial Carrier Protein SCaMC-32
Small Calcium-Binding Mitochondrial Carrier Protein 32 3     Mitochondrial Ca2+-Dependent Solute Carrier Protein 22
Solute Carrier Family 25 Member 232 3     Short Calcium-Binding Mitochondrial Carrier 32
APC22 3     SCAMC33

External Ids:    HGNC: 193751   Entrez Gene: 790852   Ensembl: ENSG000001256487   OMIM: 6087465   UniProtKB: Q9BV353   

Export aliases for SLC25A23 gene to outside databases

Previous GC identifers: GC19M006387 GC19M006390 GC19M006200


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SLC25A23 Gene:
SLC25A23 (solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23) is a protein-coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is SLC25A24.

UniProtKB/Swiss-Prot: SCMC3_HUMAN, Q9BV35
Function: Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites,
nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP-Mg/Pi exchanger that
mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine
nucleotides into or from the mitochondria




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A23 gene promoter:
         MAZR   Pax-5   AML1a   MIF-1   LUN-1   Nkx2-5   LCR-F1   E47   Roaz   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A23 promoter sequence
   Search Chromatin IP Primers for SLC25A23

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A23


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.1

SLC25A23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A23 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M006436:  view genomic region     (about GC identifiers)

Start:
6,436,090 bp from pter      End:
6,465,214 bp from pter
Size:
29,125 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., 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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SCMC3_HUMAN, Q9BV35 (See protein sequence)
Recommended Name: Calcium-binding mitochondrial carrier protein SCaMC-3  
Size: 468 amino acids; 52378 Da
Sequence caution: Sequence=BAB70825.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAC11071.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B4DGB6 Q4LBC2 Q705K3 Q86Y43 Q8N2N4 Q96NQ4
Alternative splicing: 4 isoforms:  Q9BV35-1   Q9BV35-2   Q9BV35-3   Q9BV35-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC25A23: NX_Q9BV35

Explore proteomics data for SLC25A23 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC25A23 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_077008.2  
    ENSEMBL proteins: 
     ENSP00000472517   ENSP00000472590   ENSP00000472153   ENSP00000264088   ENSP00000470688  
     ENSP00000301454   ENSP00000470757   ENSP00000470589   ENSP00000334537   ENSP00000472177  
     ENSP00000408814  

    SLC25A23 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for SLC25A23
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    Novus Biologicals SLC25A23 Proteins
    Novus Biologicals SLC25A23 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SLC25A23

     
    Search eBioscience for Proteins for SLC25A23 

     
    antibodies-online proteins for SLC25A23 (4 products) 

     
    antibodies-online peptides for SLC25A23

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    ThermoFisher Antibody for SLC25A23
    antibodies-online antibodies for SLC25A23 (3 products) 

    SLC25A23 Assay Products:

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    Cloud-Clone Corp. ELISAs for SLC25A23
    Cloud-Clone Corp. CLIAs for SLC25A23
    Search eBioscience for ELISAs for SLC25A23 
    antibodies-online kits for SLC25A23 (4 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
    EFHAND: EF-hand domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: Mitochondrial phosphate carrier 2
    Miscellaneous SLC25 mitochondrial transporters

    Selected InterPro protein domains (see all 6):
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR002067 Mit_carrier
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q9BV35

    ProtoNet protein and cluster: Q9BV35

    1 Blocks protein domain: IPB002067 Mitochondrial carrier protein signature

    UniProtKB/Swiss-Prot: SCMC3_HUMAN, Q9BV35
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 EF-hand domains
    Similarity: Contains 3 Solcar repeats


    Find genes that share domains with SLC25A23           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCMC3_HUMAN, Q9BV35
    Function: Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites,
    nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP-Mg/Pi exchanger that
    mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine
    nucleotides into or from the mitochondria
    Biophysicochemical properties: Kinetic parameters: KM=1.3 mM for AMP; KM=0.54 mM for ADP; KM=0.31 mM for ATP;
    KM=0.22 mM for ATP-Mg; KM=1.4 mM for Pi; Vmax=68 umol/min/g enzyme with AMP as substrate; Vmax=73 umol/min/g
    enzyme with ADP as substrate; Vmax=65 umol/min/g enzyme with ATP as substrate; Vmax=79 umol/min/g enzyme with
    ATP-Mg as substrate; Vmax=70 umol/min/g enzyme with Pi as substrate;

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with SLC25A23           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for SLC25A23:
     Decreased POU5F1-GFP protein e  Decreased cell number and incr  Upregulation of Wnt/beta-caten 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc25a23):
     cellular  homeostasis/metabolism  renal/urinary system 

    Find genes that share phenotypes with SLC25A23           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc25a23tm1Lex for SLC25A23

       genOway: Develop your customized and physiologically relevant rodent model for SLC25A23

    miRNA
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    miRTarBase miRNAs that target SLC25A23:
    hsa-mir-93-3p (MIRT038719), hsa-mir-26b-5p (MIRT029435), hsa-mir-373-3p (MIRT002545), hsa-mir-335-5p (MIRT017835)

    Block miRNA regulation of human, mouse, rat SLC25A23 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A23 (see all 17):
    hsa-miR-203 hsa-miR-99a* hsa-miR-99b* hsa-miR-519c-3p hsa-miR-3647-3p hsa-miR-4282 hsa-miR-519a hsa-miR-519b-3p
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A23 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC25A23

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SLC25A23 (NM_024103)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC25A23
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A23

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A23


    (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
    SCMC3_HUMAN, Q9BV35: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with SLC25A23           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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        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A23: 
              Mitochondria in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC25A23

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for SLC25A23 (Q9BV353 ENSP000003014544) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLH1P406923I2D: score=1 
    SURF1ENSP000003610424STRING: ENSP00000361042
    MTG1ENSP000003230474STRING: ENSP00000323047
    SLC25A31ENSP000002811544STRING: ENSP00000281154
    SLC25A4ENSP000002814564STRING: ENSP00000281456
    About this table

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

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

    Find genes that share ontologies with SLC25A23           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 SLC25A23 (SCMC3)

    1 HMDB Compound for SLC25A23    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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 SLC25A23 gene: 
    NM_024103.2  

    Unigene Cluster for SLC25A23:

    Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23
    Hs.356231  [show with all ESTs]
    Unigene Representative Sequence: NM_024103
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598704 ENST00000595810 ENST00000598908 ENST00000264088(uc010duu.2 uc002mew.1 uc002meu.3 uc002mev.3)
    ENST00000601322 ENST00000601760 ENST00000301454(uc010xjd.1 uc002mex.1)
    ENST00000593600 ENST00000600682 ENST00000597039 ENST00000334510 ENST00000595267
    ENST00000597307 ENST00000414491
    miRNA
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    Block miRNA regulation of human, mouse, rat SLC25A23 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A23 (see all 17):
    hsa-miR-203 hsa-miR-99a* hsa-miR-99b* hsa-miR-519c-3p hsa-miR-3647-3p hsa-miR-4282 hsa-miR-519a hsa-miR-519b-3p
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A23 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: SLC25A23 (NM_024103)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC25A23
      QuantiTect SYBR Green Assays in human, mouse, rat SLC25A23
      QuantiFast Probe-based Assays in human, mouse, rat SLC25A23

    Additional mRNA sequence: 

    AJ512835.1 AJ619962.1 AJ619988.1 AJ879080.1 AJ879081.1 AJ879082.1 AK027562.1 AK054901.1 
    AK074579.1 AK294514.1 AK295484.1 AY750170.1 BC001656.1 

    17 DOTS entries:

    DT.86846438  DT.95212814  DT.95112825  DT.95112824  DT.99999624  DT.100816493  DT.86846819  DT.95112827 
    DT.100756479  DT.121448505  DT.121448554  DT.202317  DT.91716869  DT.91763814  DT.95283685  DT.97847078 
    DT.92012276 

    Selected AceView cDNA sequences (see all 213):

    AJ619962 AK054901 AI626034 AA464020 BI828204 BM789034 CB242135 BU187163 
    BX355230 AI658953 AI346214 BU683165 N28251 BF436336 BQ064797 AI278328 
    BQ188940 N89638 BM662373 BM981975 AK074579 BU165037 CR602513 AA424986 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A23 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                    -                                               -                       -     -     -                 -         
    SP2:                    -                 -                             -                                                               
    SP3:                    -                 -                             -                       -                                       
    SP4:                                      -                                                                                             
    SP5:                                                                    -                       -     -     -     -                     


    ECgene alternative splicing isoforms for SLC25A23

    (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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    SLC25A23 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC25A23 Expression
    About this image


    SLC25A23 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Thyroid (Endocrine System)
     
     Esophagus (Gastrointestinal Tract)
    SLC25A23 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A23 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.356231

    UniProtKB/Swiss-Prot: SCMC3_HUMAN, Q9BV35
    Tissue specificity: Present in various cell lines (at protein level). Expressed at low levels in most tissues
    examined, with highest expression in brain, skeletal muscle and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A23: 
              Mitochondria in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat SLC25A23
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A23

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC25A23 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a231 , 5 solute carrier family 25 (mitochondrial carrier; phosphate more1, 5 85.44(n)1
    93.79(a)1
      17 (29.64 cM)5
    669721  NM_025877.41  NP_080153.21 
     570437115 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    84(a)
    1 → many
    2(76324557-76366488)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc25a231 solute carrier family 25 (mitochondrial carrier; phosphate more 69.35(n)
    73.86(a)
      100216197  NM_001142166.1  NP_001135638.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-204f11.591 si:dkey-204f11.59 68.2(n)
    71.05(a)
      561087  NM_001044952.1  NP_001038417.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG321036
    --
    42(a)
    1 → many
    3L(12395395-12407942)
    worm
    (Caenorhabditis elegans)
    Secernentea F55A11.46
    F17E5.26
    Protein F17E5.2 (F17E5.2) mRNA, complete cds
    42(a)
    42(a)
    many ↔ many
    many ↔ many
    V(11770532-11773495) WBGene00010077
    X(12394265-12399490) WBGene00008924
    rice
    (Oryza sativa)
    Liliopsida Os06g06045001 Os06g0604500 47.78(n)
    42.44(a)
      4341470  NM_001064553.1  NP_001058018.1 


    ENSEMBL Gene Tree for SLC25A23 (if available)
    TreeFam Gene Tree for SLC25A23 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC25A23 gene
    SLC25A242  SLC25A422  SLC25A252  SLC25A412  SLC25A162  SLC25A432  
    17 SIMAP similar genes for SLC25A23 using alignment to 11 protein entries:     SCMC3_HUMAN (see all proteins):
    SLC25A25    SLC25A24    SLC25A41    SLC25A38    SLC25A42    SLC25A16
    SLC25A36    SLC25A19    CALM2    SLC25A45    SLC25A6    SLC25A32
    SLC25A4    SLC25A5    SLC25A29    SLC25A14    TNNC2

    Find genes that share paralogs with SLC25A23           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC25A23 (see all 580)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1815701071,2
    --6224616(+) CCGGTA/CTCGGT 1 -- us2k10--------
    rs3483581,2
    C,F,A--6224717(+) aagacA/Ccccaa 1 -- us2k15Minor allele frequency- C:0.37NA CSA WA EA 361
    rs1407452301,2
    C--6224743(+) TAATA-/ATTATTAT 1 -- us2k10--------
    rs2000675971,2
    --6224744(+) AATAA-/TTATTA 1 -- us2k10--------
    rs361163411,2
    C--6224745(+) ATAATA/TATTAT 1 -- us2k14Minor allele frequency- T:0.14WA NA CSA 7
    rs350287971,2
    C--6224747(+) AATTA-/TTATTAT 1 -- us2k10--------
    rs5867871,2
    C--6224748(+) ATTATT/AATTAT 1 -- us2k1 tfbs31Minor allele frequency- A:0.50WA 2
    rs2018916431,2
    --6224751(+) ATTAT-/TATTTTT 1 -- us2k10--------
    rs1492273141,2
    C--6224752(+) TTATT-/ATTTTT 1 -- us2k10--------
    rs739206741,2
    C,F--6224760(+) TTTTTT/AAAAAA 1 -- us2k11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for SLC25A23 (6436090 - 6465214 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SLC25A23:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718065CNV Deletion23290073
    esv2017710CNV Deletion18987734
    nsv910916CNV Loss21882294
    nsv910923CNV Loss21882294
    nsv833727CNV Loss17160897
    dgv3698n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A23
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A23

    (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: 608746    OMIM disorders: --


    Find genes that share disorders with SLC25A23           About GenesLikeMe

    Genetic Association Database (GAD): SLC25A23
    Human Genome Epidemiology (HuGE) Navigator: SLC25A23 (1 document)

    Export disorders for SLC25A23 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 SLC25A23 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with SLC25A23)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution. (PubMed id 15123600)1, 2, 3 Fiermonte G....Palmieri F. (J. Biol. Chem. 2004)
    2. Cellular expression and alternative splicing of SLC25A23, a member of the mitochondrial Ca2+-dependent solute carrier gene family. (PubMed id 15716113)1, 2, 9 Bassi M.T.... Borsani G. (Gene 2005)
    3. Novel variants of human SCaMC-3, an isoform of the ATP-Mg/P(i) mitochondrial carrier, generated by alternative splicing from 3'- flanking transposable elements. (PubMed id 15801905)1, 2, 9 Del Arco A. (Biochem. J. 2005)
    4. 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)
    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. Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains. (PubMed id 15054102)1, 2 del Arco A. and Satrustegui J. (J. Biol. Chem. 2004)
    7. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PubMed id 23266187)1 Palmieri F. (Mol. Aspects Med. 2013)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery. (PubMed id 20020773)1 Freibaum B.D....Taylor J.P. (J. Proteome Res. 2010)
    10. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)

    (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: 79085 HGNC: 19375 AceView: SLC25A23 Ensembl:ENSG00000125648 euGenes: HUgn79085
    ECgene: SLC25A23 H-InvDB: SLC25A23

    (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 SLC25A23 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 SLC25A23 gene:
    Search GeneIP for patents involving SLC25A23

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



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