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

SLC25A12 Gene

protein-coding   GIFtS: 64
GCID: GC02M172604

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

(Previous names: solute carrier family 25 (mitochondrial carrier, Aralar),...)
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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)
About This Section

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   

Export aliases for SLC25A12 gene to outside databases

Previous GC identifers: GC02M170692 GC02M171182 GC02M172843 GC02M172466 GC02M172349 GC02M164525


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

Entrez Gene summary for 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, and citrullinemia, and among its related super-pathways are Glucose metabolism and MPS IIIC - Sanfilippo syndrome C. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC25A12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: CMC1_HUMAN, O75746 (See protein sequence)
Recommended Name: Calcium-binding mitochondrial carrier protein Aralar1  
Size: 678 amino acids; 74762 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75746

  • SLC25A12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC25A12 Protein Expression
    REFSEQ proteins: NP_003696.2  
    ENSEMBL proteins: 
     ENSP00000388658   ENSP00000263812   ENSP00000413968   ENSP00000437845   ENSP00000376371  
    Reactome Protein details: O75746
    Human Recombinant Protein Products for SLC25A12: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

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

    SLC25A12 for ontologies           About GeneDecksing



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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: Aralar 
    Mitochondrial di- and tri-carboxylic acid 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 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


    SLC25A12 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: 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 (GO ID links to tree view):    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
         
    SLC25A12 for ontologies           About GeneDecksing


    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  mortality/aging  nervous system 

    SLC25A12 for phenotypes           About GeneDecksing

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC25A12 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glucose metabolism
    Glucose metabolism0.50
    Gluconeogenesis0.50
    2MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48
    3Metabolism
    Metabolism0.40
    4Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    5Mitochondrial Protein Import
    Mitochondrial Protein Import

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6        Reactome Pathways for SLC25A12 (see all 6)
        Gluconeogenesis
    Metabolism of carbohydrates
    Metabolism
    Mitochondrial Protein Import
    Glucose metabolism



    SLC25A12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC25A12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/264 Interacting proteins for SLC25A12 (O757462, 3 ENSP000003886584) via UniProtKB, MINT, STRING, and/or I2D (see all 264)
    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): 5/9 biological process terms (GO ID links to tree view) (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

    SLC25A12 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

    SLC25A12 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about SLC25A12 / CMC1

    (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 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

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    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 

    24/188 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™, 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

    SLC25A12 expression in normal human tissues (normalized intensities)      SLC25A12 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Thalamus
             Substantia Nigra   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus

    See SLC25A12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A12

    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

        SABiosciences Expression via Pathway-Focused PCR Array including SLC25A12: 
              Mitochondria in human mouse rat

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    In Situ
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    (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 animals and fungi.

    Orthologs for SLC25A12 gene from 7/16 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 80.79(n)
    87.65(a)
      431387  XM_428938.3  XP_428938.3 
    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
    CG2139-PA1
    58(a)3
    59(n)1
    59.61(a)1
      436161  NM_170485.21  NP_733364.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K02F3.21 , 3 Protein K02F3.21 53(a)3
    56.54(n)1
    55.73(a)1
      III(845852-850264)3
    1752421  NM_064873.31  NP_497274.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AGC16
    Mitochondrial amino acid transporter, acts both as...
    27(a)
    1 → many
    XVI(600649-603357)


    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
    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

    SLC25A12 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

    10/2088 SNPs in SLC25A12 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 7 diseases for SLC25A12:    About MalaCards
    global cerebral hypomyelination    citrullinemia    cerebritis    autism spectrum disorder
    hypotonia    schizophrenia    neuronitis

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

    SLC25A12 for disorders           About GeneDecksing


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

    PubMed articles for SLC25A12 gene, integrated from 9 sources (see all 52):
    (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. (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. (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. (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. (1999)
    5. AGC1 deficiency associated with global cerebral hypom yelination. (PubMed id 19641205)1, 2, 9 Wibom R....Wedell A. (2009)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2010)
    8. Genes related to sex steroids, neural growth, and soc ial-emotional behavior are associated with autistic traits, empathy, and Asperg er syndrome. (PubMed id 19598235)1, 4 Chakrabarti B....Baron-Cohen S. (2009)
    9. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (2009)
    10. 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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8604 HGNC: 10982 AceView: SLC25A12 Ensembl:ENSG00000115840 euGenes: HUgn8604
    ECgene: SLC25A12 H-InvDB: SLC25A12

    (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 SLC25A12 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 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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