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

SLC25A23 Gene

protein-coding   GIFtS: 50
GCID: GC19M006436

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

  Search for SLC25A23
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; 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011255.14  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC25A23

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: SCMC3_HUMAN, Q9BV35 (See protein sequence)
Recommended Name: Calcium-binding mitochondrial carrier protein SCaMC-3  
Size: 468 amino acids; 52378 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BV35

  • SLC25A23 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC25A23 Protein Expression
    REFSEQ proteins: NP_077008.2  
    ENSEMBL proteins: 
     ENSP00000472517   ENSP00000472590   ENSP00000472153   ENSP00000264088   ENSP00000470688  
     ENSP00000301454   ENSP00000470757   ENSP00000470589   ENSP00000334537   ENSP00000472177  
     ENSP00000408814  

    Human Recombinant Protein Products 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 

    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--

    SLC25A23 for ontologies           About GeneDecksing



    SLC25A23 Antibody Products: 
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    Abcam antibodies for SLC25A23
    Cloud-Clone Corp. Antibodies for SLC25A23 
    ThermoFisher Antibody for SLC25A23
    Search LSBio for Antibodies for SLC25A23 

    Assay Products for SLC25A23: 
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    Cloud-Clone Corp. ELISAs for SLC25A23 
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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
    EFHAND: EF-hand domain containing

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

    5/6 InterPro protein domains (see all 6):
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom
     IPR002067 Mit_carrier
     IPR023395 Mt_carrier_dom

    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


    SLC25A23 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    SLC25A23 for ontologies           About GeneDecksing


    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 

    SLC25A23 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc25a23tm1Lex for SLC25A23

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC25A23 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC25A23

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC25A23 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC25A23 

    miRNA
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    8/17 QIAGEN miScript miRNA 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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    Gene Editing
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A23


    (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 SLC25A23

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

    3 Interacting proteins for SLC25A23 (Q9BV353 ENSP000003014544) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLH1P406923I2D: score=1 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

    SLC25A23 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 SLC25A23 (SCMC3)

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

    Search CenterWatch for drugs/clinical trials and news about SLC25A23 / SCMC3

    (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 SLC25A23 gene: 
    NM_024103.2  

    Unigene Clusters for SLC25A23:

    Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23
    Hs.356231  [show with all ESTs], Hs.732434  [show with all ESTs]
    Unigene Representative Sequences: NM_024103, AI384040
    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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    8/17 QIAGEN miScript miRNA 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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    Primer
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    Additional mRNA sequence: AJ879083.1 

    17 DOTS entries:

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

    24/213 AceView cDNA sequences (see all 213):

    BI828204 BM981975 BU165037 BU501193 AI626034 AW970381 AI278328 AA424986 
    N28251 AK054901 CR602513 AI658953 AK074579 CA314353 AA480114 BX331253 
    AJ619962 BU187163 N89638 BM789034 BX090803 NM_024103 AA464020 CR617001 

    GeneLoc Exon Structure

    5/7 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™, 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

    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


    See SLC25A23 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A23

    SOURCE GeneReport for Unigene clusters: Hs.356231 Hs.732434

    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

        SABiosciences Expression via Pathway-Focused PCR Array including SLC25A23: 
              Mitochondria in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC25A23 gene from 8/17 species (see all 17)    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)
    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 F55A11.4, isoform a
    Probable calcium-binding mitochondrial carrier F17...
    42(a)
    42(a)
    many ↔ many
    many ↔ many
    V(11771246-11773495)
    X(12394265-12399490)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SAL11 Sal1p 43.49(n)
    32.88(a)
      855641   NP_014316.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G618101 Mitochondrial substrate carrier family protein 47.18(n)
    43.79(a)
      836303  NM_125575.3  NP_568940.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g06045001 hypothetical protein 47.7(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)
    About This Section
    Paralogs for SLC25A23 gene
    SLC25A242  SLC25A422  SLC25A252  SLC25A162  SLC25A412  SLC25A432  
    17 SIMAP similar genes for SLC25A23 using alignment to 11 protein entries:     SCMC3_HUMAN (see all proteins):
    SLC25A25    SLC25A24    SLC25A41    SLC25A38    SLC25A42    SLC25A36
    SLC25A16    SLC25A19    SLC25A6    CALM2    SLC25A45    SLC25A32
    SLC25A4    SLC25A5    SLC25A29    SLC25A14    TNNC2

    SLC25A23 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

    10/580 SNPs in SLC25A23 are shown (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

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    (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

    SLC25A23 for disorders           About MalaCards
    OMIM gene information: 608746    OMIM disorders: --


    SLC25A23 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SLC25A23 gene, integrated from 9 sources (see all 13):
    (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. (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. (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. (2005)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    7. The mitochondrial transporter family SLC25: identifica tion, properties and physiopathology. (PubMed id 23266187)1 Palmieri F. (2013)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79085 HGNC: 19375 AceView: SLC25A23 Ensembl:ENSG00000125648 euGenes: HUgn79085
    ECgene: SLC25A23 H-InvDB: SLC25A23

    (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 SLC25A23 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 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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