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SLC25A12 Gene

protein-coding   GIFtS: 65
GCID: GC02M172604

Solute Carrier Family 25 (Aspartate/Glutamate Carrier),...

(Previous names: solute carrier family 25 (mitochondrial carrier, Aralar),...)
  See SLC25A12-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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 121 2     Araceli Hiperlarga2
Solute Carrier Family 25 (Mitochondrial Carrier, Aralar), Member 121 2     Calcium Binding Mitochondrial Carrier Superfamily Member Aralar12
Mitochondrial Aspartate Glutamate Carrier 12 3     Calcium-Binding Mitochondrial Carrier Protein Aralar12
ARALAR2 5     ARALAR13
AGC12     Solute Carrier Family 25 Member 123

External Ids:    HGNC: 109821   Entrez Gene: 86042   Ensembl: ENSG000001158407   OMIM: 6036675   UniProtKB: O757463   
ORGUL members:         

Export aliases for SLC25A12 gene to outside databases

Previous GC identifers: GC02M170692 GC02M171182 GC02M172843 GC02M172466 GC02M172349 GC02M164525


(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 SLC25A12 Gene:
This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the
mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane.
Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of
global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene.
(provided by RefSeq, Apr 2012)

GeneCards Summary for SLC25A12 Gene:
SLC25A12 (solute carrier family 25 (aspartate/glutamate carrier), member 12) is a protein-coding gene. Diseases associated with SLC25A12 include global cerebral hypomyelination. GO annotations related to this gene include L-aspartate transmembrane transporter activity and calcium ion binding. An important paralog of this gene is SLC25A13.

UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
Function: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across
the mitochondrial inner membrane. May have a function in the urea cycle

Gene Wiki entry for SLC25A12 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_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A12 gene promoter:
         TBP   Sox5   AML1a   FOXD3   POU2F1   POU2F1a   POU2F1b   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A12 promoter sequence
   Search Chromatin IP Primers for SLC25A12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A12


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

Entrez Gene cytogenetic band: 2q24   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q24

SLC25A12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A12 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M172604:  view genomic region     (about GC identifiers)

Start:
172,639,915 bp from pter      End:
172,864,766 bp from pter
Size:
224,852 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: CMC1_HUMAN, O75746 (See protein sequence)
Recommended Name: Calcium-binding mitochondrial carrier protein Aralar1  
Size: 678 amino acids; 74762 Da
Miscellaneous: Binds calcium
Secondary accessions: Q96AM8

Explore the universe of human proteins at neXtProt for SLC25A12: NX_O75746

Explore proteomics data for SLC25A12 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC25A12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003696.2  
    ENSEMBL proteins: 
     ENSP00000388658   ENSP00000263812   ENSP00000413968   ENSP00000437845   ENSP00000376371  
    Reactome Protein details: O75746

    SLC25A12 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for SLC25A12 (23 products) 

     
    antibodies-online peptides for SLC25A12

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    antibodies-online kits for SLC25A12 (33 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: Aralar
    Mitochondrial di- and tri-carboxylic acid 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 O75746

    ProtoNet protein and cluster: O75746

    UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 4 EF-hand domains
    Similarity: Contains 3 Solcar repeats


    Find genes that share domains with SLC25A12           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: CMC1_HUMAN, O75746
    Function: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across
    the mitochondrial inner membrane. May have a function in the urea cycle

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005313L-glutamate transmembrane transporter activity IDA11566871
    GO:0005509calcium ion binding IDA9722566
    GO:0015183L-aspartate transmembrane transporter activity IDA11566871
         
    Find genes that share ontologies with SLC25A12           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC25A12:
     Decreased Salmonella enterica  

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc25a12):
     behavior/neurological  cellular  growth/size/body  mortality/aging  nervous system 

    Find genes that share phenotypes with SLC25A12           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SLC25A12

    miRNA
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    miRTarBase miRNAs that target SLC25A12:
    hsa-mir-30c-5p (MIRT047856), hsa-let-7b-5p (MIRT032465), hsa-let-7f-5p (MIRT051393), hsa-mir-766-3p (MIRT039054)

    Block miRNA regulation of human, mouse, rat SLC25A12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A12 (see all 63):
    hsa-miR-576-3p hsa-miR-323-3p hsa-miR-100* hsa-miR-361-5p hsa-miR-607 hsa-miR-301a hsa-miR-519a hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A12 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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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
    CMC1_HUMAN, O75746: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    plasma membrane2
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA11566871
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016021integral component of membrane NAS9722566

    Find genes that share ontologies with SLC25A12           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 SLC25A12 About    
    See pathways by source

    SuperPathContained pathways About
    1Glucose metabolism
    Glucose metabolism0.44
    Gluconeogenesis0.44
    2MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    3Metabolism
    Metabolism0.38
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    5Mitochondrial Protein Import
    Mitochondrial Protein Import


    Find genes that share SuperPaths with SLC25A12           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SLC25A12 (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    2 Reactome Pathways for SLC25A12
        Gluconeogenesis
    Mitochondrial protein import


        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A12: 
              Mitochondria in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC25A12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for SLC25A12 (O757462, 3 ENSP000003886584) via UniProtKB, MINT, STRING, and/or I2D (see all 270)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    PELOQ9BRX23, ENSP000002743114I2D: score=2 STRING: ENSP00000274311
    PHLDA3Q9Y5J53, ENSP000003562784I2D: score=2 STRING: ENSP00000356278
    SMAD3P840223, ENSP000003329734I2D: score=2 STRING: ENSP00000332973
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0015810aspartate transport IDA11566871
    GO:0015813L-glutamate transport IDA11566871

    Find genes that share ontologies with SLC25A12           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 SLC25A12 (CMC1)

    2 HMDB Compounds for SLC25A12    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--

    1 DrugBank Compound for SLC25A12    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--17237342 17151801 17497669 17213189

    3 Novoseek inferred chemical compound relationships for SLC25A12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aspartate 53.2 6 11566871 (3), 15254020 (2), 19641205 (1)
    glutamate 40.5 5 11566871 (3), 15254020 (2)
    calcium 0.78 2 15254020 (1), 10642534 (1)



    Find genes that share compounds with SLC25A12           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 SLC25A12 gene: 
    NM_003705.4  

    Unigene Cluster for SLC25A12:

    Solute carrier family 25 (aspartate/glutamate carrier), member 12
    Hs.470608  [show with all ESTs]
    Unigene Representative Sequence: NM_003705
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000422440(uc002uhh.2 uc010fqh.2) ENST00000263812 ENST00000472070
    ENST00000494892 ENST00000485880 ENST00000426896(uc010zdv.1) ENST00000475360
    ENST00000472748 ENST00000484227 ENST00000464063 ENST00000392592
    miRNA
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    hsa-miR-576-3p hsa-miR-323-3p hsa-miR-100* hsa-miR-361-5p hsa-miR-607 hsa-miR-301a hsa-miR-519a hsa-miR-570
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      QuantiFast Probe-based Assays in human, mouse, rat SLC25A12

    Additional mRNA sequence: 

    AJ496568.1 AK022828.1 AK054941.1 AK091071.1 AK294638.1 BC016932.1 NR_047549.1 Y14494.1 

    12 DOTS entries:

    DT.416086  DT.425367  DT.95274275  DT.100677634  DT.100700657  DT.91656694  DT.95274274  DT.120943153 
    DT.91937744  DT.99956002  DT.91920012  DT.91944731 

    Selected AceView cDNA sequences (see all 188):

    BM668520 BQ052410 BQ218079 Z41030 AI803179 AA938107 AK091071 BM142257 
    AW337372 BF726035 BX106378 BQ925545 BM054890 NM_003705 BX342054 CK300090 
    CB155371 BM844833 BM761989 BM761332 BF221461 AW058317 BF589845 BI966134 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A12    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b
    SP1:                                            -                       -                                   -                           
    SP2:                    -                       -                       -                                   -                           
    SP3:                                                                                                                                    
    SP4:                                                                                                                                    


    ECgene alternative splicing isoforms for SLC25A12

    (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)
    About This Section

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    SLC25A12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGTGGATG
    SLC25A12 Expression
    About this image


    SLC25A12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Thalamus
             Substantia Nigra   
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
    SLC25A12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.470608

    UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
    Tissue specificity: High levels in heart and skeletal muscle, low in brain and very low in kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A12: 
              Mitochondria in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat SLC25A12
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A12

    (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 animals and fungi.

    Orthologs for SLC25A12 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a121 , 5 solute carrier family 25 (mitochondrial carrier, Aralar), more1, 5 88.07(n)1
    96.89(a)1
      2 (42.38 cM)5
    788301  NM_172436.31  NP_766024.11 
     712710635 
    chicken
    (Gallus gallus)
    Aves SLC25A121 solute carrier family 25 (mitochondrial carrier, Aralar), more 80.33(n)
    87.16(a)
      431387  XM_428938.4  XP_428938.4 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A126
    solute carrier family 25 (aspartate/glutamate carr...
    90(a)
    1 ↔ 1
    GL343353.1(632587-720306)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.35112 Danio rerio solute carrier family 25 (mitochondrial more 75.1(n)    BC057495.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta aralar11 , 3 transport carrier3
    aralar11
    58(a)3
    59.11(n)1
    60.49(a)1
      436161  NM_001260439.11  NP_001247368.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K02F3.21 , 3 K02F3.21 53(a)3
    56.49(n)1
    55.73(a)1
      III(845852-850264)3
    1752421  NM_064873.41  NP_497274.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AGC16
    Mitochondrial amino acid transporter, acts both as...
    27(a)
    1 → many
    XVI(600649-603357) YPR021C


    ENSEMBL Gene Tree for SLC25A12 (if available)
    TreeFam Gene Tree for SLC25A12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for SLC25A12 gene
    SLC25A132  SLC25A182  SLC25A442  SLC25A222  
    9 SIMAP similar genes for SLC25A12 using alignment to 5 protein entries:     CMC1_HUMAN (see all proteins):
    SLC25A13    SLC25A22    SLC25A18    SLC25A20    FLJ00351    SLC25A6
    LOC283130    SLC25A45    SLC25A21

    Find genes that share paralogs with SLC25A12           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)
    About This Section

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    Selected SNPs for SLC25A12 (see all 2088)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0632534
    Global cerebral hypomyelination (GCHM)4--see VAR_0632532 Q R mis40--------
    rs1381750591,2
    C--164545672(+) AAAAT-/AC    
       
    /ACAC
    ACACA
    1 -- int10--------
    rs714014551,2
    C--164545673(+) AAAAT-/ACAC  
     
    /ACACAC
    ACACA
    2 -- int1 cds11NA 2
    rs2001513381,2
    C--164562509(-) TTTTTC/TTTTTT 1 -- int10--------
    rs665251231,2
    C--164597369(+) ATGTA-/GAAGTG 1 -- int10--------
    rs358604841,2
    C--164624645(+) CTGGC-/CTTT  
            
    CTGTT
    1 -- int10--------
    rs787226991,2
    --164624647(+) GGCCTG/TTCTGT 1 -- int10--------
    rs2007417831,2
    C--164624649(-) AAACAA/GAAAGG 1 -- int10--------
    rs105577241,2
    C--164631093(+) ATCCC-/CTGATAT 2 -- int12Minor allele frequency- CT:0.25NA 4
    rs73555941,2
    C,F,A--172033883(+) TTGTGG/TACATG 1 -- ds500110Minor allele frequency- T:0.32NA WA CSA EA 370

    HapMap Linkage Disequilibrium report for SLC25A12 (172639915 - 172864766 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC25A12:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674991CNV Deletion23128226
    esv2721130CNV Deletion23290073
    nsv834457CNV Loss17160897
    dgv4362n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC25A12
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A12
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A12

    (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.)
    About This Section

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    OMIM gene information: 603667   
    OMIM disorders: 612949  
    UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
  • Global cerebral hypomyelination (GCHM) [MIM:612949]: A disorder with onset in infancy and characterized
    by severe psychomotor retardation, hypotonia, seizures, hypomyelination of the central nervous system, with the
    gray matter appearing relatively unaffected. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 1 disease for SLC25A12:    
    About MalaCards
    global cerebral hypomyelination

    1 disease from the University of Copenhagen DISEASES database for SLC25A12:
    Autistic disorder

    Find genes that share disorders with SLC25A12           About GenesLikeMe

    Genetic Association Database (GAD): SLC25A12
    Human Genome Epidemiology (HuGE) Navigator: SLC25A12 (14 documents)

    Export disorders for SLC25A12 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 SLC25A12 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with SLC25A12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. (PubMed id 11566871)1, 2, 3, 9 Palmieri L....Palmieri F. (EMBO J. 2001)
    2. Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene. (PubMed id 17151801)1, 4, 7 Correia C....Vicente A.M. (J Autism Dev Disord 2006)
    3. Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain. (PubMed id 9722566)1, 2, 3 Del Arco A. and Satrustegui J. (J. Biol. Chem. 1998)
    4. Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. (PubMed id 10702666)1, 3, 9 Crackower M.A....Scherer S.W. (Cytogenet. Cell Genet. 1999)
    5. AGC1 deficiency associated with global cerebral hypomyelination. (PubMed id 19641205)1, 2, 9 Wibom R....Wedell A. (N. Engl. J. Med. 2009)
    6. 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)
    7. Association study of the SLC25A12 gene and autism in Han Chinese in Taiwan. (PubMed id 19913066)1, 4 Chien W.H....Chen C.H. (amp 2010)
    8. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PubMed id 19401682)1, 4 Maestrini E....Monaco A.P. (Mol. Psychiatry 2010)
    9. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. (PubMed id 19598235)1, 4 Chakrabarti B....Baron-Cohen S. (Autism Res 2009)
    10. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)

    (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: 8604 HGNC: 10982 AceView: SLC25A12 Ensembl:ENSG00000115840 euGenes: HUgn8604
    ECgene: SLC25A12 H-InvDB: SLC25A12

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SLC25A12 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 SLC25A12 gene:
    Search GeneIP for patents involving SLC25A12

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



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