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SLC25A3 Gene

protein-coding   GIFtS: 62
GCID: GC12P098997

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


(Previous symbol: PHC)
  See SLC25A3-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 25 (Mitochondrial Carrier; Phosphate Carrier),
Member 31 2
PHC1 2 3 5
Phosphate Transport Protein2 3
PTP2 3
Phosphate Carrier Protein, Mitochondrial2
Solute Carrier Family 25 Member 33

External Ids:    HGNC: 109891   Entrez Gene: 52502   Ensembl: ENSG000000754157   OMIM: 6003705   UniProtKB: Q003253   

Export aliases for SLC25A3 gene to outside databases

Previous GC identifers: GC12P098290 GC12P099491 GC12P098920 GC12P097489 GC12P096048


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC25A3 Gene:
The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by
proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in
tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both
the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced
transcript variants have been isolated. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC25A3 Gene:
SLC25A3 (solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3) is a protein-coding gene. Diseases associated with SLC25A3 include mitochondrial phosphate carrier deficiency. GO annotations related to this gene include phosphate ion carrier activity and symporter activity.

UniProtKB/Swiss-Prot: MPCP_HUMAN, Q00325
Function: Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported
with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP)

Gene Wiki entry for SLC25A3 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A3 gene promoter:
         GATA-3   Pax-5   AML1a   ATF-2   Egr-1   GATA-2   GATA-1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A3 promoter sequence
   Search Chromatin IP Primers for SLC25A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A3


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

Entrez Gene cytogenetic band: 12q23   Ensembl cytogenetic band:  12q23.1   HGNC cytogenetic band: 12q23.1

SLC25A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A3 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P098997:  view genomic region     (about GC identifiers)

Start:
98,987,369 bp from pter      End:
98,995,946 bp from pter
Size:
8,578 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MPCP_HUMAN, Q00325 (See protein sequence)
Recommended Name: Phosphate carrier protein, mitochondrial precursor  
Size: 362 amino acids; 40095 Da
Subunit: Interacts with PPIF; the interaction is impaired by CsA (By similarity)
Secondary accessions: B3KS34 Q7Z7N7 Q96A03
Alternative splicing: 2 isoforms:  Q00325-1   Q00325-2   

Explore the universe of human proteins at neXtProt for SLC25A3: NX_Q00325

Explore proteomics data for SLC25A3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys99, Lys101, Lys112, Lys121, Lys206, Lys209, Lys214, Lys218, Lys247, Lys252
  • Modification sites at PhosphoSitePlus

  • See SLC25A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_002626.1  NP_005879.1  NP_998776.1  

    ENSEMBL proteins: 
     ENSP00000383898   ENSP00000188376   ENSP00000447310   ENSP00000447339   ENSP00000448708  
     ENSP00000448969   ENSP00000449479   ENSP00000449793   ENSP00000447740   ENSP00000449009  
     ENSP00000449166   ENSP00000228318  

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    Search eBioscience for ELISAs for SLC25A3 


    (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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Mitochondrial phosphate carrier
    Mitochondrial phosphate transporters

    2 InterPro protein domains:
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q00325

    ProtoNet protein and cluster: Q00325

    UniProtKB/Swiss-Prot: MPCP_HUMAN, Q00325
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    Find genes that share domains with SLC25A3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, 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: MPCP_HUMAN, Q00325
    Function: Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported
    with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015293symporter activity IEA--
    GO:0015320phosphate ion carrier activity TAS8144629
    GO:0032403protein complex binding IDA--
         
    Find genes that share ontologies with SLC25A3           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Slc25a3 (no phenotypes)

    Find genes that share phenotypes with SLC25A3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC25A3
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    miRNA
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    miRTarBase miRNAs that target SLC25A3:
    hsa-mir-1260b (MIRT052685), hsa-mir-17-5p (MIRT050860), hsa-mir-148a-3p (MIRT048032), hsa-mir-877-5p (MIRT037303), hsa-mir-324-5p (MIRT043170), hsa-mir-744-5p (MIRT037487), hsa-mir-92a-3p (MIRT048927), hsa-mir-425-5p (MIRT039345)

    Block miRNA regulation of human, mouse, rat SLC25A3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A3 (see all 23):
    hsa-miR-3685 hsa-miR-139-5p hsa-miR-200a hsa-miR-3074-3p hsa-miR-410 hsa-miR-507 hsa-miR-421 hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A3 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MPCP_HUMAN, Q00325: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane4
    nucleus3
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005887integral component of plasma membrane TAS8144629
    GO:0016021integral component of membrane ----
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with SLC25A3           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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    SuperPaths for SLC25A3 About    
    See pathways by source

    SuperPathContained pathways About
    1C-MYB transcription factor network
    C-MYB transcription factor network


    1 BioSystems Pathway for SLC25A3
        C-MYB transcription factor network



        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A3: 
              Mitochondria in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC25A3

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

    Selected Interacting proteins for SLC25A3 (Q003252, 3 ENSP000002283184) via UniProtKB, MINT, STRING, and/or I2D (see all 727)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EEF1A1P681042, 3MINT-6489217 MINT-6488590 MINT-6488488 MINT-6489355 MINT-6488791 I2D: score=1 
    RPS5P467822, 3MINT-6488590 MINT-6488791 MINT-6489355 MINT-8395092 I2D: score=1 
    RPL17P186212, 3MINT-6488590 MINT-6488791 MINT-6489355 I2D: score=1 
    RPL27AP467762, 3MINT-6488590 MINT-6488791 MINT-6489355 I2D: score=1 
    RPL4P365782, 3MINT-6488590 MINT-6488791 MINT-6489355 I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy TAS8168843
    GO:0006810transport TAS1777677
    GO:0035435phosphate ion transmembrane transport TAS8144629

    Find genes that share ontologies with SLC25A3           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 SLC25A3 (MPCP)

    1 HMDB Compound for SLC25A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    Selected Novoseek inferred chemical compound relationships for SLC25A3 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adp 71 12 20457929 (1), 18694940 (1), 1618863 (1), 8820407 (1) (see all 12)
    atp 65 29 8168843 (2), 15984930 (1), 17653208 (1), 17920025 (1) (see all 19)
    carnitine 46.5 4 10369894 (1), 9032458 (1), 8711733 (1)
    alpha-ketoglutarate 34.8 2 9733094 (1), 11709077 (1)
    citrate 32.1 2 19143589 (1), 9733094 (1)
    fatty acid 27.6 5 11239486 (2), 15119950 (1), 20021121 (1)
    cardiolipin 25 5 19422785 (2), 19539604 (2)
    mptp 21 2 19168026 (1), 19509316 (1)
    pyruvate 20.1 3 12887330 (1), 9438663 (1)
    calcium 18.2 9 15054102 (2), 7536690 (1), 14518861 (1), 17595917 (1) (see all 8)



    Find genes that share compounds with SLC25A3           About GenesLikeMe



    (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 SLC25A3 gene (4 alternative transcripts): 
    NM_002635.3  NM_005888.3  NM_213611.2  NM_213612.1  

    Unigene Cluster for SLC25A3:

    Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
    Hs.290404  [show with all ESTs]
    Unigene Representative Sequence: AK057575
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000401722 ENST00000188376(uc001tfm.3 uc001tfn.3 uc001tfp.3)
    ENST00000551917 ENST00000546766(uc001tfq.3 uc001tfs.3) ENST00000548046
    ENST00000552981 ENST00000551265 ENST00000550695 ENST00000547534 ENST00000549338
    ENST00000551123 ENST00000548847 ENST00000547908 ENST00000547444 ENST00000548480
    ENST00000547869 ENST00000228318(uc001tfo.3 uc001tfr.3)
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    hsa-miR-3685 hsa-miR-139-5p hsa-miR-200a hsa-miR-3074-3p hsa-miR-410 hsa-miR-507 hsa-miR-421 hsa-miR-10b*
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC25A3
      QuantiFast Probe-based Assays in human, mouse, rat SLC25A3

    Additional mRNA sequence: 

    AB064666.1 AK057575.1 AK074759.1 AK092689.1 AK222658.1 AK316598.1 BC000998.2 BC001328.2 
    BC003504.1 BC004345.1 BC006455.1 BC011574.1 BC011641.2 BC014019.2 BC015379.2 BC051367.1 
    BC068067.1 X60036.1 

    Selected DOTS entries (see all 45):

    DT.91834416  DT.92474316  DT.92474273  DT.97803940  DT.95213806  DT.100889569  DT.100889566  DT.95181482 
    DT.121168835  DT.95347239  DT.95324449  DT.92474263  DT.92474339  DT.99990237  DT.75189680  DT.92333244 
    DT.121168726  DT.95157936  DT.97862777  DT.100034645  DT.100889571  DT.100889581  DT.101985682  DT.121168828 

    Selected AceView cDNA sequences (see all 2618):

    BQ671957 BM912935 N29748 BU528159 BE257273 BE900600 BI862162 BQ057861 
    BU857825 BM975366 BE900584 BF026185 BE264464 AA306066 AA308516 AI589240 
    BM992529 BF795123 BM976484 BQ927312 BM984737 AA486200 AI148627 BU180936 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A3 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
    SP1:                          -           -           -     -     -                                                   
    SP2:                          -           -     -     -     -                                                         
    SP3:                          -           -                 -     -                                                   
    SP4:                          -           -     -     -     -                                                         
    SP5:                          -                                                                                       


    ECgene alternative splicing isoforms for SLC25A3

    (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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    SLC25A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTGGTACCC
    SLC25A3 Expression
    About this image


    SLC25A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebral Cortex
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Lens
     
     Bone (Muscoskeletal System)
             Bone Marrow
    SLC25A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.290404
        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A3: 
              Mitochondria in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A3

    (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 SLC25A3 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a31 , 5 solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3 less1, 5 88.52(n)1
    92.72(a)1
      10 (45.60 cM)5
    186741  NM_133668.31  NP_598429.11 
     911165745 
    chicken
    (Gallus gallus)
    Aves SLC25A31 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 less 80.74(n)
    88.02(a)
      417924  NM_001006236.1  NP_001006236.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A36
    solute carrier family 25 (mitochondrial carrier; p...
    84(a)
    1 ↔ 1
    5(29319392-29334070)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046849.12   -- 83.28(n)    BC046849.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC046007.12   -- 78.72(n)    BC046007.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90901 , 3 carrier3
    CG90901
    74(a)
    (best of 2)3
    62.78(n)1
    68.61(a)1
      56F153
    372971  NM_137624.11  NP_611468.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C33F10.123
    F01G4.61
    mitochondrial phosphate carrier protei3
    F01G4.61
    66(a)
    (best of 3)3
    62.85(n)1
    72.29(a)1
      II(4836358-4837629)3
    1780201  NM_001083203.21  NP_001076672.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PIC2(YER053C)4 Mitochondrial phosphate carrier, imports inorganic phosphate into mitochondria; functionally redundant with Mir1p but less abundant than Mir1p under normal conditions; expression is induced at high temperature less   --   5(259639-258737) 856779  NP_010973.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PHT3;21 PHT3;2 58.28(n)
    56.9(a)
      824046  NM_114744.3  NP_190454.1 
    rice
    (Oryza sativa)
    Liliopsida AK069397.12   -- 72.68(n)    AK069397.1 


    ENSEMBL Gene Tree for SLC25A3 (if available)
    TreeFam Gene Tree for SLC25A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC25A3 gene
    1 SIMAP similar gene for SLC25A3 using alignment to 7 protein entries:     MPCP_HUMAN (see all proteins):
    DKFZp686J11229

    Find genes that share paralogs with SLC25A3           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for SLC25A3
    PGOHUM00000239928 PGOHUM00000261247 PGOHUM00000244036


    (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)
    About This Section

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    Selected SNPs for SLC25A3 (see all 294)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0328504
    Mitochondrial phosphate carrier deficiency (MPCD)4--see VAR_0328502 G E mis40--------
    rs1048943751,2
    Cpathogenic198828512(+) TGGAGA/GAATTA 4 E G int1 mis10--------
    rs770183161,2
    C,F--96046566(+) TATTAC/TCCGGT 3 -- us2k11Minor allele frequency- T:0.05WA 118
    rs1383400861,2
    --96046569(+) TACCCA/GGTGCT 3 -- us2k10--------
    rs1496030111,2
    C--98824675(+) AAAGGA/GTTTTT 3 -- us2k10--------
    rs1461266131,2
    --98824770(+) TAAGAA/TCAGAC 3 -- us2k10--------
    rs1400742961,2
    --98824836(+) CTTTAC/TCTGTC 3 -- us2k10--------
    rs1847035091,2
    --98824850(+) ACTTCC/TCTTCC 3 -- us2k10--------
    rs1179552711,2
    F--98824939(+) GCTTAG/CAGAGT 3 -- us2k11Minor allele frequency- C:0.02EA 120
    rs1114799531,2
    C,F--98825064(+) CTGCAG/AGCTCT 3 -- us2k11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for SLC25A3 (98987369 - 98995946 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SLC25A3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7234OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): SLC25A3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A3
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600370   
    OMIM disorders: 610773  
    UniProtKB/Swiss-Prot: MPCP_HUMAN, Q00325
  • Mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773]: Fatal disorder of oxidative
    phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within
    the first year of life. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for SLC25A3:    
    About MalaCards
    mitochondrial phosphate carrier deficiency

    2 diseases from the University of Copenhagen DISEASES database for SLC25A3:
    Mucoepidermoid carcinoma     Progressive myoclonus epilepsy

    Find genes that share disorders with SLC25A3           About GenesLikeMe

    1 Novoseek inferred disease relationship for SLC25A3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    graves disease 11.1 1 2072923 (1)

    Genetic Association Database (GAD): SLC25A3
    Human Genome Epidemiology (HuGE) Navigator: SLC25A3 (1 document)

    Export disorders for SLC25A3 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 SLC25A3 gene, integrated from 10 sources (see all 164):
    (articles sorted by number of sources associating them with SLC25A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The sequences of human and bovine genes of the phosphate carrier from mitochondria contain evidence of alternatively spliced forms. (PubMed id 8144629)1, 2, 9 Dolce V.... Walker J.E. (J. Biol. Chem. 1994)
    2. Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier. (PubMed id 8168843)1, 3, 9 Jabs E.W....Pedersen P.L. (Hum. Genet. 1994)
    3. Nucleotide sequence of a human heart cDNA encoding the mitochondrial phosphate carrier. (PubMed id 1777677)1, 2, 9 Dolce V.... Palmieri F. (DNA Seq. 1991)
    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. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. (PubMed id 17273968)1, 2 Mayr J.A.... Sperl W. (Am. J. Hum. Genet. 2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders. (PubMed id 9733094)1, 9 Huizing M....Trijbels J.M. (J. Bioenerg. Biomembr. 1998)
    9. Functional analysis of the promoter of the mitochondrial phosphate carrier human gene: identification of activator and repressor elements and their transcription factors. (PubMed id 15984930)1, 9 Iacobazzi V....Palmieri F. (Biochem. J. 2005)
    10. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5250 HGNC: 10989 AceView: SLC25A3 Ensembl:ENSG00000075415 euGenes: HUgn5250
    ECgene: SLC25A3 H-InvDB: SLC25A3

    (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 SLC25A3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SLC25A3 gene:
    Search GeneIP for patents involving SLC25A3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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