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SLC25A22 Gene

protein-coding   GIFtS: 55
GCID: GC11M000791

Solute Carrier Family 25 (Mitochondrial Carrier: Glutamate),...

  See SLC25A22-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 25 (Mitochondrial Carrier: Glutamate), Member
221 2
     EIEE32 5
GC12 3 5     NET442
Glutamate/H(+) Symporter 12 3     Mitochondrial Glutamate Carrier 12
GC-12 3     Solute Carrier Family 25 Member 223

External Ids:    HGNC: 199541   Entrez Gene: 797512   Ensembl: ENSG000001775427   OMIM: 6093025   UniProtKB: Q9H9363   

Export aliases for SLC25A22 gene to outside databases

Previous GC identifers: GC11P000747 GC11P000400 GC11M000783 GC11M000784 GC11M000785 GC11M000608


(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 SLC25A22 Gene:
This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile
epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been
identified.(provided by RefSeq, Jul 2010)

GeneCards Summary for SLC25A22 Gene:
SLC25A22 (solute carrier family 25 (mitochondrial carrier: glutamate), member 22) is a protein-coding gene. Diseases associated with SLC25A22 include epileptic encephalopathy, early infantile, 3, and infantile epileptic encephalopathy. GO annotations related to this gene include L-glutamate transmembrane transporter activity and symporter activity. An important paralog of this gene is SLC25A13.

UniProtKB/Swiss-Prot: GHC1_HUMAN, Q9H936
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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A22 gene promoter:
         Oct-B1   oct-B2   oct-B3   Pax-5   p53   p300   YY1   POU2F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A22 promoter sequence
   Search Chromatin IP Primers for SLC25A22

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A22


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

SLC25A22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A22 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M000791:  view genomic region     (about GC identifiers)

Start:
790,475 bp from pter      End:
798,316 bp from pter
Size:
7,842 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: GHC1_HUMAN, Q9H936 (See protein sequence)
Recommended Name: Mitochondrial glutamate carrier 1  
Size: 323 amino acids; 34470 Da
Sequence caution: Sequence=AAH24212.2; Type=Erroneous initiation;
Secondary accessions: A8K366 C9J1H6 E9PJD3 E9PKB2 E9PL68 E9PN26 E9PNQ3 E9PP01 E9PR97 Q8TBU8

Explore the universe of human proteins at neXtProt for SLC25A22: NX_Q9H936

Explore proteomics data for SLC25A22 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys55, Lys83, Lys96, Lys100, Lys142, Lys188, Lys286
  • Modification sites at PhosphoSitePlus

  • See SLC25A22 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001177989.1  NP_001177990.1  NP_078974.1  

    ENSEMBL proteins: 
     ENSP00000322020   ENSP00000437236   ENSP00000431829   ENSP00000435862   ENSP00000432222  
     ENSP00000434287   ENSP00000436745   ENSP00000437045   ENSP00000433655   ENSP00000434479  
     ENSP00000433780   ENSP00000432817   ENSP00000392749   ENSP00000431466   ENSP00000433028  
     ENSP00000435402   ENSP00000434850  

    SLC25A22 Human Recombinant Protein Products:

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    Novus Biologicals SLC25A22 Protein
    Novus Biologicals SLC25A22 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SLC25A22

     
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    antibodies-online proteins for SLC25A22 (2 products) 

     
    antibodies-online peptides for SLC25A22

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    antibodies-online antibodies for SLC25A22 (9 products) 

    SLC25A22 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Mitochondrial glutamate carrier 1
    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 Q9H936

    ProtoNet protein and cluster: Q9H936

    UniProtKB/Swiss-Prot: GHC1_HUMAN, Q9H936
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    Find genes that share domains with SLC25A22           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: GHC1_HUMAN, Q9H936
    Function: Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is
    cotransported with H(+)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005313L-glutamate transmembrane transporter activity IDA11897791
    GO:0015293symporter activity IEA--
         
    Find genes that share ontologies with SLC25A22           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC25A22:
     Cell cycle / mitosis defect 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SLC25A22

    miRNA
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    miRTarBase miRNAs that target SLC25A22:
    hsa-mir-1 (MIRT001332), hsa-mir-16-5p (MIRT001415)

    Block miRNA regulation of human, mouse, rat SLC25A22 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A22 (see all 32):
    hsa-miR-124* hsa-miR-3607-3p hsa-miR-15a hsa-miR-29a hsa-miR-4267 hsa-miR-424 hsa-miR-296-5p hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A22 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): SLC25A22 (NM_024698)
    Sino Biological Human cDNA Clone for SLC25A22
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A22


    (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
    GHC1_HUMAN, Q9H936: Mitochondrion inner membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus4
    cytosol1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IDA11897791
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SLC25A22           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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        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A22: 
              Mitochondria in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC25A22

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for SLC25A22 (Q9H9363 ENSP000003220204) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASP4P496623, ENSP000003885664I2D: score=2 STRING: ENSP00000388566
    PSMD13Q9UNM63, ENSP000003969374I2D: score=2 STRING: ENSP00000396937
    TNFRSF14Q929563, ENSP000003479484I2D: score=1 STRING: ENSP00000347948
    WRAP73Q9P2S53, ENSP000002707084I2D: score=1 STRING: ENSP00000270708
    CLN3Q132863, ENSP000003530734I2D: score=3 STRING: ENSP00000353073
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0015813L-glutamate transport IDA11897791
    GO:0055085transmembrane transport ----

    Find genes that share ontologies with SLC25A22           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 SLC25A22 (GHC1)

    1 DrugBank Compound for SLC25A22    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC25A22 gene (3 alternative transcripts): 
    NM_001191060.1  NM_001191061.1  NM_024698.5  

    Unigene Cluster for SLC25A22:

    Solute carrier family 25 (mitochondrial carrier: glutamate), member 22
    Hs.99486  [show with all ESTs]
    Unigene Representative Sequence: NM_001191060
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000320230(uc001lri.3 uc009yci.3 uc001lrj.3) ENST00000531214
    ENST00000481290 ENST00000531437 ENST00000529351 ENST00000533385 ENST00000526152
    ENST00000528606 ENST00000527734 ENST00000527723 ENST00000531514 ENST00000528936
    ENST00000456706 ENST00000532484 ENST00000524891 ENST00000529066 ENST00000531534
    ENST00000532361(uc009ycj.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat SLC25A22 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A22 (see all 32):
    hsa-miR-124* hsa-miR-3607-3p hsa-miR-15a hsa-miR-29a hsa-miR-4267 hsa-miR-424 hsa-miR-296-5p hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A22 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC25A22
      QuantiFast Probe-based Assays in human, mouse, rat SLC25A22

    Additional mRNA sequence: 

    AB593174.1 AJ428202.1 AK023106.1 AK290481.1 AK311038.1 AL832423.1 BC019033.2 BC023545.2 
    BC024212.2 

    17 DOTS entries:

    DT.441968  DT.100788330  DT.95190634  DT.120710231  DT.95123663  DT.120710228  DT.120710226  DT.95123657 
    DT.100770321  DT.109837  DT.120710218  DT.120710225  DT.102829613  DT.120710214  DT.120710206  DT.120710216 
    DT.120710217 

    Selected AceView cDNA sequences (see all 196):

    AL832423 BU629072 BP338846 CA424537 AI422121 BX106572 BU075981 BM796768 
    BM712687 BU784834 AK023106 AA503748 BU618262 BM720305 BM911909 BQ877730 
    BI755284 BU184311 BC023545 AU130740 AW103311 BU189762 CK825216 AW274933 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A22 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for SLC25A22

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC25A22 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGAGAATA
    SLC25A22 Expression
    About this image


    SLC25A22 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Peripheral Nervous System (Nervous System)
     
     Spinal Cord (Nervous System)
    SLC25A22 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A22 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99486

    UniProtKB/Swiss-Prot: GHC1_HUMAN, Q9H936
    Tissue specificity: Highly expressed in most tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A22: 
              Mitochondria in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for SLC25A22
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC25A22
    QuantiTect SYBR Green Assays in human, mouse, rat SLC25A22
    QuantiFast Probe-based Assays in human, mouse, rat SLC25A22
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A22

    (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 SLC25A22 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a221 , 5 solute carrier family 25 (mitochondrial carrier, glutamate), more1, 5 88.24(n)1
    95.67(a)1
      7 (86.78 cM)5
    682671  NM_001177576.11  NP_001171047.11 
     1414297395 
    chicken
    (Gallus gallus)
    Aves SLC25A221 solute carrier family 25 (mitochondrial carrier: glutamate), more 78.47(n)
    86.52(a)
      429678  NM_001252068.1  NP_001238997.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A226
    solute carrier family 25 (mitochondrial carrier: g...
    83(a)
    1 ↔ 1
    1(73800900-73892597)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC063272.12   -- 76.03(n)    BC063272.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa12h052 Danio rerio cDNA clone MGC56592 IMAGE5915177, complete more 77.66(n)    BC051620.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG183471 CG18347 65.32(n)
    63.18(a)
      41448  NM_001275561.1  NP_001262490.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F20D1.91 CELE_F20D1.9 55.56(n)
    56.38(a)
      181596  NM_078092.3  NP_510493.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AGC16
    Mitochondrial amino acid transporter, acts both as...
    13(a)
    1 → many
    XVI(600649-603357) YPR021C


    ENSEMBL Gene Tree for SLC25A22 (if available)
    TreeFam Gene Tree for SLC25A22 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC25A22 gene
    SLC25A132  SLC25A122  SLC25A182  SLC25A442  
    8 SIMAP similar genes for SLC25A22 using alignment to 14 protein entries:     GHC1_HUMAN (see all proteins):
    SLC25A18    SLC25A27    SLC25A11    SLC25A19    SLC25A30    SLC25A12
    SLC25A13    UCP2

    Find genes that share paralogs with SLC25A22           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)
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    Selected SNPs for SLC25A22 (see all 308)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0227374
    Epileptic encephalopathy, early infantile, 3 (EIEE3)4--see VAR_0227372 P L mis40--------
    rs1809460221,2
    --726725(+) ATGCAC/TTGCTC 3 -- ds50010--------
    rs1423631861,2
    --726797(+) GATCCG/TCAAAC 3 -- ds50010--------
    rs49631541,2
    C,A,H--726856(-) ACCCCG/TCAGTT 3 -- ds50015Minor allele frequency- T:0.00NS EA NA 418
    rs1463491871,2
    --726975(+) CGGTGA/GGTGGG 3 -- ds50010--------
    rs1855164251,2
    --726987(+) GCGCAA/GGCCTA 3 -- ds50010--------
    rs745734371,2
    C,F--727021(+) GTTATG/AGGAAG 3 -- ds50012Minor allele frequency- A:0.09NA EA 240
    rs1914551281,2
    --727241(+) AACTGA/GGGGGG 3 -- ut310--------
    rs171560641,2
    C,F,H--727365(-) TGCCCC/TGCCCT 3 -- ut31 ese318Minor allele frequency- T:0.13MN EA NS NA CSA WA 2475
    rs1180510431,2
    C,F--727612(+) ATGCCC/TGCCCT 3 -- ut312Minor allele frequency- T:0.10NA EA 240

    HapMap Linkage Disequilibrium report for SLC25A22 (790475 - 798316 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC25A22 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv182e199CNV Deletion23128226
    dgv946n71CNV Loss21882294
    dgv944n71CNV Loss21882294
    nsv469923CNV Loss18288195
    dgv921n71CNV Loss21882294
    dgv936n71CNV Loss21882294
    dgv945n71CNV Loss21882294
    dgv948n71CNV Loss21882294
    nsv896587CNV Loss21882294
    nsv896599CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC25A22
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A22
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A22

    (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.)
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    OMIM gene information: 609302   
    OMIM disorders: 609304  
    UniProtKB/Swiss-Prot: GHC1_HUMAN, Q9H936
  • Epileptic encephalopathy, early infantile, 3 (EIEE3) [MIM:609304]: A severe form of epilepsy
    characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of
    suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases.
    Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary
    myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no
    effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a
    persistent vegetative state. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for SLC25A22:    
    About MalaCards
    epileptic encephalopathy, early infantile, 3    infantile epileptic encephalopathy    epileptic encephalopathy, early infantile, 12    early myoclonic encephalopathy
    ohtahara syndrome    epileptic encephalopathy, early infantile, 17

    2 diseases from the University of Copenhagen DISEASES database for SLC25A22:
    Ohtahara syndrome     Early myoclonic encephalopathy

    Find genes that share disorders with SLC25A22           About GenesLikeMe


    Export disorders for SLC25A22 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 SLC25A22 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with SLC25A22)
        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. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. (PubMed id 15592994)1, 2 Molinari F.... Colleaux L. (Am. J. Hum. Genet. 2005)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. (PubMed id 19780765)1, 9 Molinari F....Colleaux L. (Clin. Genet. 2009)
    6. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)
    7. SLC25A22 is a novel gene for migrating partial seizures in infancy. (PubMed id 24596948)1 Poduri A....Walsh C.A. (Ann. Neurol. 2013)
    8. The mitochondrial transporter family SLC25: identification, properties and physiopathology. (PubMed id 23266187)1 Palmieri F. (Mol. Aspects Med. 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)

    (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: 79751 HGNC: 19954 AceView: SLC25A22 Ensembl:ENSG00000177542 euGenes: HUgn79751
    ECgene: SLC25A22 H-InvDB: SLC25A22

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC25A22 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC25A22 gene:
    Search GeneIP for patents involving SLC25A22

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



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