Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SLC25A18 Gene

protein-coding   GIFtS: 54
GCID: GC22P018043

Solute Carrier Family 25 (Glutamate Carrier), Member 18

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

TryGeneCards Plus

Aliases
Solute Carrier Family 25 (Glutamate Carrier), Member 181 2     Solute Carrier Family 25 Member 182 3
GC22 3 5     GC-22 3
Solute Carrier Family 25 (Mitochondrial Carrier), Member 181 2     Mitochondrial Glutamate Carrier 22
Glutamate/H(+) Symporter 22 3     

External Ids:    HGNC: 109881   Entrez Gene: 837332   Ensembl: ENSG000001829027   OMIM: 6093035   UniProtKB: Q9H1K43   

Export aliases for SLC25A18 gene to outside databases

Previous GC identifers: GC22P014986 GC22P016417 GC22P016423 GC22P001861


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

TryGeneCards Plus

GeneCards Summary for SLC25A18 Gene:
SLC25A18 (solute carrier family 25 (glutamate carrier), member 18) is a protein-coding gene. Diseases associated with SLC25A18 include cat eye syndrome. GO annotations related to this gene include symporter activity. An important paralog of this gene is SLC25A13.

UniProtKB/Swiss-Prot: GHC2_HUMAN, Q9H1K4
Function: Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is
cotransported with H(+)




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000022.11  NC_018933.2  NT_187355.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A18 gene promoter:
         GR   USF1   GR-beta   MIF-1   NF-kappaB   PPAR-gamma1   USF-1   PPAR-gamma2   GR-alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A18 promoter sequence
   Search Chromatin IP Primers for SLC25A18

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A18


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

Entrez Gene cytogenetic band: 22q11.2   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.2

SLC25A18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A18 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P018043:  view genomic region     (about GC identifiers)

Start:
18,043,139 bp from pter      End:
18,073,760 bp from pter
Size:
30,622 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: GHC2_HUMAN, Q9H1K4 (See protein sequence)
Recommended Name: Mitochondrial glutamate carrier 2  
Size: 315 amino acids; 33849 Da

Explore the universe of human proteins at neXtProt for SLC25A18: NX_Q9H1K4

Explore proteomics data for SLC25A18 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys82
  • Modification sites at PhosphoSitePlus

  • See SLC25A18 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_113669.1  
    ENSEMBL proteins: 
     ENSP00000329033   ENSP00000382710  

    SLC25A18 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SLC25A18
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SLC25A18
    GenScript Custom Purified and Recombinant Proteins Services for SLC25A18
    Novus Biologicals SLC25A18 Protein
    Novus Biologicals SLC25A18 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SLC25A18

    SLC25A18 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SLC25A18
    Novus Biologicals SLC25A18 Antibodies
    Search for Antibodies for SLC25A18 at Abcam
    Cloud-Clone Corp. Antibodies for SLC25A18
    Search ThermoFisher Antibodies for SLC25A18
    Search LSBio for Antibodies for SLC25A18

    SLC25A18 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SLC25A18
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SLC25A18
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SLC25A18
    Cloud-Clone Corp. CLIAs for SLC25A18


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Mitochondrial glutamate carrier 2
    Mitochondrial di- and tri-carboxylic acid transporters

    3 InterPro protein domains:
     IPR002067 Mit_carrier
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q9H1K4

    ProtoNet protein and cluster: Q9H1K4

    UniProtKB/Swiss-Prot: GHC2_HUMAN, Q9H1K4
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    SLC25A18 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GHC2_HUMAN, Q9H1K4
    Function: Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is
    cotransported with H(+)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015293symporter activity IEA--
         
    SLC25A18 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC25A18:
     Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC25A18
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC25A18

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC25A18
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC25A18

    miRNA
    Products:
        
    miRTarBase miRNAs that target SLC25A18:
    hsa-mir-335-5p (MIRT019171), hsa-mir-148b-3p (MIRT019472)

    Block miRNA regulation of human, mouse, rat SLC25A18 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A18 (see all 11):
    hsa-miR-98 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7i hsa-let-7e hsa-let-7g hsa-let-7b
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A18 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SLC25A18
    Predesigned siRNA for gene silencing in human, mouse, rat SLC25A18

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SLC25A18

    Clone
    Products:
         
    OriGene clones in human, mouse for SLC25A18 (see all 6)
    OriGene ORF clones in mouse, rat for SLC25A18
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SLC25A18 (NM_031481)
    Sino Biological Human cDNA Clone for SLC25A18
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC25A18
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A18

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SLC25A18
    Browse ESI BIO Cell Lines and PureStem Progenitors for SLC25A18 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A18


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    GHC2_HUMAN, Q9H1K4: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane3
    cytosol1
    endoplasmic reticulum1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    SLC25A18 for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC25A18
    Interactions:

        Search GeneGlobe Interaction Network for SLC25A18

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for SLC25A18 (Q9H1K42, 3 ENSP000003290334) via UniProtKB, MINT, STRING, and/or I2D (see all 248)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    SLC25A3Q003252, ENSP000002283184MINT-8079030 STRING: ENSP00000228318
    SLC25A12O757462, ENSP000003886584MINT-8079030 STRING: ENSP00000388658
    SLC25A13Q9UJS02, ENSP000002656314MINT-8079030 STRING: ENSP00000265631
    GRID2O434243I2D: score=1 
    About this table

    (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)
    About This Section

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

    Browse Tocris compounds for SLC25A18 (GHC2)

    1 HMDB Compound for SLC25A18    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--

    1 DrugBank Compound for SLC25A18    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17139284 17016423



    (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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SLC25A18 gene: 
    NM_031481.1  

    Unigene Cluster for SLC25A18:

    Solute carrier family 25 (glutamate carrier), member 18
    Hs.282982  [show with all ESTs]
    Unigene Representative Sequence: AK095706
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000327451(uc002zmp.1) ENST00000399813(uc010gqx.3 uc002zmq.1)
    ENST00000496051 ENST00000467228 ENST00000497401 ENST00000469889
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SLC25A18 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A18 (see all 11):
    hsa-miR-98 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-let-7i hsa-let-7e hsa-let-7g hsa-let-7b
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A18 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SLC25A18
    Predesigned siRNA for gene silencing in human, mouse, rat SLC25A18
    Clone
    Products:
         
    OriGene clones in human, mouse for SLC25A18 (see all 6)
    OriGene ORF clones in mouse, rat for SLC25A18
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SLC25A18 (NM_031481)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC25A18
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A18
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SLC25A18
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC25A18
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC25A18
      QuantiTect SYBR Green Assays in human, mouse, rat SLC25A18
      QuantiFast Probe-based Assays in human, mouse, rat SLC25A18

    Additional mRNA sequence: 

    AJ428203.1 AK095706.1 AK308974.1 AK309110.1 AY008285.1 BC031644.1 CR456578.1 

    8 DOTS entries:

    DT.410644  DT.100741363  DT.91979210  DT.120640396  DT.95367631  DT.100673389  DT.120640395  DT.95077978 

    Selected AceView cDNA sequences (see all 53):

    CD672841 BI756451 CB161544 BM920764 BC031644 BM920748 AI076197 NM_031481 
    CR456578 AY008285 AJ428203 H06004 BI753542 AI936864 Z39813 BM720069 
    BP348020 BU621395 AI206252 AK095706 BX422384 BI822368 Z43755 AA728784 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A18 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^
    SP1:                                            -     -           -     -     -           -     -     -     -     -                                             
    SP2:                                            -     -     -     -     -     -           -     -     -     -     -                                             
    SP3:                                      -     -     -           -     -     -           -     -     -     -     -                                             
    SP4:                                                              -     -     -           -     -     -     -     -                                             
    SP5:                                                                                                                                                            

    ExUns: 12a · 12b ^ 13a · 13b
    SP1:  -                     
    SP2:  -                     
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for SLC25A18

    (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

    TryGeneCards Plus

    SLC25A18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGGCGCTG
    SLC25A18 Expression
    About this image


    SLC25A18 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     NULL (Uncategorized)
             Endoderm progenitor-like cells
     
     Spinal Cord (Nervous System)
             Oligodendrocyte progenitor cells
     
     Brain (Nervous System)
             Oligodendrocyte progenitor cells
     
     Oligodendrocytes (Nervous System)
             Oligodendrocyte progenitor cells
     
     Liver (Hepatobiliary System)
    SLC25A18 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A18 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.282982
        Custom PCR Arrays for SLC25A18
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SLC25A18
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC25A18
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC25A18
    QuantiTect SYBR Green Assays in human, mouse, rat SLC25A18
    QuantiFast Probe-based Assays in human, mouse, rat SLC25A18
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A18

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SLC25A18 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a181 , 5 solute carrier family 25 (mitochondrial carrier), member more1, 5 85.19(n)1
    87.94(a)1
      6 (57.00 cM)5
    718031  NM_001081048.21  NP_001074517.11 
     1207737685 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A186
    solute carrier family 25 (glutamate carrier), memb...
    73(a)
    1 ↔ 1
    5(14001110-14008065)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc25a181 solute carrier family 25 (glutamate carrier), member more 70.21(n)
    75.75(a)
      100125036  NM_001102958.1  NP_001096428.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc25a181 solute carrier family 25 (mitochondrial carrier), member more 66.02(n)
    69.58(a)
      568740  XM_005174363.1  XP_005174420.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG183473 carrier 51(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea F20D1.93 Mitochondrial carrier proteins 48(a)
    (best of 2)
      X(15037393-15038468)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AGC16
    Mitochondrial amino acid transporter, acts both as...
    12(a)
    1 → many
    XVI(600649-603357) YPR021C


    ENSEMBL Gene Tree for SLC25A18 (if available)
    TreeFam Gene Tree for SLC25A18 (if available)

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

    TryGeneCards Plus
    Paralogs for SLC25A18 gene
    SLC25A132  SLC25A122  SLC25A442  SLC25A222  
    3 SIMAP similar genes for SLC25A18 using alignment to 1 protein entry:     GHC2_HUMAN:
    SLC25A22    SLC25A12    SLC25A13

    SLC25A18 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC25A18
    PGOHUM00000238935


    (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

    TryGeneCards Plus

    Selected SNPs for SLC25A18 (see all 894)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1827192081,2
    --1989600(+) TGGAAA/TAGAAA 1 -- us2k10--------
    rs1138959711,2
    C,F--1990222(+) TTGCCC/TAGGCT 1 -- us2k12Minor allele frequency- T:0.02NA 122
    rs59920671,2
    C,F--1990273(+) tcccgG/Agctca 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1743571,2
    C,F,A,H--1990409(+) gcctcT/Agcctc 1 -- us2k15Minor allele frequency- A:0.29NA CSA WA EA 362
    rs1481365961,2
    --1990470(+) TTTATA/GAGGAA 1 -- us2k10--------
    rs117047801,2
    C,F,H--1990532(+) AACAAA/CTATAT 1 -- us2k19Minor allele frequency- C:0.02NS EA NA 956
    rs1149620131,2
    F--1990533(+) ACAAAT/CATATG 1 -- us2k11Minor allele frequency- C:0.05WA 118
    rs563943851,2
    C,F--1990549(+) AAAGTT/AAGCAT 1 -- us2k11Minor allele frequency- A:0.04NA 120
    rs1461234011,2
    --1990617(+) TTTTGA/GAACTG 1 -- us2k10--------
    rs1169258621,2
    C,F--1990634(+) TTTAAC/TGCTTG 1 -- us2k11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for SLC25A18 (18043139 - 18073760 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC25A18 (see all 30):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2533793CNV Deletion19546169
    esv2029533CNV Deletion18987734
    esv1116778CNV Deletion17803354
    esv2670900CNV Deletion23128226
    esv2657458CNV Deletion23128226
    esv2170081CNV Deletion18987734
    esv2672971CNV Deletion23128226
    esv2723950CNV Deletion23290073
    esv4931CNV Deletion18987735
    esv1371480CNV Deletion17803354

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A18
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A18

    (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

    TryGeneCards Plus
    OMIM gene information: 609303    OMIM disorders: --

    1 disease for SLC25A18:    
    About MalaCards
    cat eye syndrome


    SLC25A18 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC25A18
    Human Genome Epidemiology (HuGE) Navigator: SLC25A18 (1 document)

    Export disorders for SLC25A18 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

    TryGeneCards Plus

    PubMed articles for SLC25A18 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with SLC25A18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. (PubMed id 11897791)1, 2, 3 Fiermonte G....Walker J.E. (J. Biol. Chem. 2002)
    2. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. (PubMed id 11381032)1, 2, 3 Footz T.K....McDermid H.E. (Genome Res. 2001)
    3. 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)
    4. 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)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    6. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PubMed id 23266187)1 Palmieri F. (Mol. Aspects Med. 2013)
    7. A 600a88kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. (PubMed id 22395867)1 Knijnenburg J....van Zutven L.J. (Eur. J. Hum. Genet. 2012)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (EMBO J. 2010)
    10. Drugs, their targets and the nature and number of drug targets. (PubMed id 17016423)7 Imming P....Meyer A. (Nat Rev Drug Discov 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 83733 HGNC: 10988 AceView: SLC25A18 Ensembl:ENSG00000182902 euGenes: HUgn83733
    ECgene: SLC25A18 H-InvDB: SLC25A18

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for SLC25A18 Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for SLC25A18 gene:
    Search GeneIP for patents involving SLC25A18

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SLC25A18  
     OriGene qPCR primer pairs and template standards for SLC25A18   OriGene Protein Over-expression Lysate for SLC25A18  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SLC25A18  
     OriGene qSTAR qPCR primer pairs in human, mouse for SLC25A18   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SLC25A18   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SLC25A18   OriGene Custom Protein Services for SLC25A18  

     
     
     Block miRNA regulation of human, mouse, rat SLC25A18 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SLC25A18
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A18 Predesigned siRNA for gene silencing in human, mouse, rat SLC25A18
     QuantiFast Probe-based Assays in human, mouse, rat SLC25A18 QuantiTect SYBR Green Assays in human, mouse, rat SLC25A18
     Custom PCR Arrays for SLC25A18 Search Chromatin IP Primers for SLC25A18
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC25A18  Search GeneGlobe Interaction Network for SLC25A18
     Regulatory tfbs in SLC25A18 promoter
     GenScript Custom Purified and Recombinant Proteins Services for SLC25A18 GenScript cDNA clones with any tag delivered in your preferred vector for SLC25A18
     GenScript Custom Assay Services for SLC25A18 GenScript Custom overexpressing Cell Line Services for SLC25A18
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SLC25A18 (GHC2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for SLC25A18
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SLC25A18 antibodies
     SLC25A18 proteins
     SLC25A18 lysates
     Search for Antibodies for SLC25A18 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SLC25A18
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for SLC25A18
     Antibodies for SLC25A18
     ELISAs for SLC25A18
     CLIAs for SLC25A18



     Browse ESI BIO Cell Lines and PureStem Progenitors for SLC25A18
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A18
     SwitchGear 3'UTR luciferase reporter plasmids for SLC25A18
     SwitchGear Promoter luciferase reporter plasmids for SLC25A18
     Search ThermoFisher Antibodies for SLC25A18
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A18
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC25A18
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC25A18
     Search LSBio for Antibodies for SLC25A18
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SLC25A18 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4