Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SLC25A13 Gene

protein-coding   GIFtS: 67
GCID: GC07M095749

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

(Previous names: solute carrier family 25, member 13 (citrin))
(Previous symbol: CTLN2)
  See 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)
About This Section

TryGeneCards Plus

Aliases
Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 131 2     CITRIN2
Mitochondrial Aspartate Glutamate Carrier 21 2 3     Calcium-Binding Mitochondrial Carrier Protein Aralar22
CTLN21 2 5     Citrin3
Solute Carrier Family 25, Member 13 (Citrin)1 2     Solute Carrier Family 25 Member 133
ARALAR22 3     

External Ids:    HGNC: 109831   Entrez Gene: 101652   Ensembl: ENSG000000048647   OMIM: 6038595   UniProtKB: Q9UJS03   

Export aliases for SLC25A13 gene to outside databases

Previous GC identifers: GC07M094284 GC07M095347 GC07M095361 GC07M095394 GC07M095587 GC07M090357


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

TryGeneCards Plus

Entrez Gene summary for SLC25A13 Gene:
This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+)
binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of
aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the
external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, May
2009)

GeneCards Summary for SLC25A13 Gene:
SLC25A13 (solute carrier family 25 (aspartate/glutamate carrier), member 13) is a protein-coding gene. Diseases associated with SLC25A13 include adult-onset citrullinemia type ii, and failure to thrive and dyslipidemia caused by citrin deficiency. GO annotations related to this gene include L-glutamate transmembrane transporter activity and calcium ion binding. An important paralog of this gene is SLC25A12.

UniProtKB/Swiss-Prot: CMC2_HUMAN, Q9UJS0
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




(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_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A13 gene promoter:
         AhR   Pax-5   NF-AT   Arnt   NF-AT4   NF-AT2   POU2F1   FOXO4   POU2F1a   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SLC25A13 promoter sequence
   Search Chromatin IP Primers for SLC25A13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A13


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

Entrez Gene cytogenetic band: 7q21.3   Ensembl cytogenetic band:  7q21.3   HGNC cytogenetic band: 7q21.3

SLC25A13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A13 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M095749:  view genomic region     (about GC identifiers)

Start:
95,749,532 bp from pter      End:
95,951,459 bp from pter
Size:
201,928 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 95,078,578-95,280,528     

(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: CMC2_HUMAN, Q9UJS0 (See protein sequence)
Recommended Name: Calcium-binding mitochondrial carrier protein Aralar2  
Size: 675 amino acids; 74176 Da
Miscellaneous: Binds calcium
Sequence caution: Sequence=AAB67049.1; Type=Erroneous gene model prediction; Sequence=AAB70112.1; Type=Erroneous
gene model prediction;
Secondary accessions: O14566 O14575 Q546F9 Q9NZW1 Q9UNI7
Alternative splicing: 2 isoforms:  Q9UJS0-1   Q9UJS0-2   

Explore the universe of human proteins at neXtProt for SLC25A13: NX_Q9UJS0

Explore proteomics data for SLC25A13 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys353, Lys484
  • Modification sites at PhosphoSitePlus

  • See SLC25A13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001153682.1  NP_055066.1  

    ENSEMBL proteins: 
     ENSP00000265631   ENSP00000473505   ENSP00000400101   ENSP00000440484  
    Reactome Protein details: Q9UJS0

    SLC25A13 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 SLC25A13
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SLC25A13
    GenScript Custom Purified and Recombinant Proteins Services for SLC25A13
    Novus Biologicals SLC25A13 Proteins
    Novus Biologicals SLC25A13 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SLC25A13 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SLC25A13
    OriGene Custom Antibody Services for SLC25A13
    Novus Biologicals SLC25A13 Antibodies
    Abcam antibodies for SLC25A13
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for SLC25A13
    LSBio Antibodies in human, mouse, rat for SLC25A13

    SLC25A13 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SLC25A13
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SLC25A13
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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
    EFHAND: EF-hand domain containing

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

    5 InterPro protein domains:
     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 Q9UJS0

    ProtoNet protein and cluster: Q9UJS0

    UniProtKB/Swiss-Prot: CMC2_HUMAN, Q9UJS0
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 4 EF-hand domains
    Similarity: Contains 3 Solcar repeats


    SLC25A13 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: CMC2_HUMAN, Q9UJS0
    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

         Genatlas biochemistry entry for SLC25A13:
    solute carrier family 25,mitochondrial,predominantly expressed in liver

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity NAS10642534
    GO:0005313L-glutamate transmembrane transporter activity IDA11566871
    GO:0005509calcium ion binding IDA10642534
    GO:0015183L-aspartate transmembrane transporter activity IDA11566871
         
    SLC25A13 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC25A13:
     Decreased Wnt reporter activit 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc25a13):
     growth/size/body  homeostasis/metabolism  liver/biliary system  mortality/aging  no phenotypic analysis 
     renal/urinary system 

    SLC25A13 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc25a13tm1Lct for SLC25A13

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC25A13
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC25A13

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC25A13
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC25A13

    miRNA
    Products:
        
    miRTarBase miRNAs that target SLC25A13:
    hsa-mir-10a-5p (MIRT047732), hsa-let-7b-5p (MIRT001594), hsa-mir-186-5p (MIRT045193), hsa-mir-98-5p (MIRT027664)

    Block miRNA regulation of human, mouse, rat SLC25A13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A13 (see all 9):
    hsa-miR-200c* hsa-miR-130a* hsa-miR-23c hsa-miR-520a-5p hsa-miR-550a* hsa-miR-525-5p hsa-miR-23b hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A13 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SLC25A13
    Predesigned siRNA for gene silencing in human, mouse, rat SLC25A13

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SLC25A13

    Clone
    Products:
         
    OriGene clones in human, mouse for SLC25A13 (see all 13)
    OriGene ORF clones in mouse, rat for SLC25A13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SLC25A13 (NM_014251)
    Sino Biological Human cDNA Clone for SLC25A13
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC25A13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A13

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SLC25A13
    Browse ESI BIO Cell Lines and PureStem Progenitors for SLC25A13 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A13


    (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
    CMC2_HUMAN, Q9UJS0: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane5
    cytosol2
    nucleus2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005887integral component of plasma membrane NAS10642534
    GO:0016021integral component of membrane ----

    SLC25A13 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

    SuperPaths for SLC25A13 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for SLC25A13
        Gluconeogenesis
    Mitochondrial protein import



    SLC25A13 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC25A13: 
              Mitochondria in human mouse rat
              Drug Transporters in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC25A13

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

    Selected Interacting proteins for SLC25A13 (Q9UJS02, 3 ENSP000002656314) via UniProtKB, MINT, STRING, and/or I2D (see all 338)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC25A5P051412, ENSP000003606714MINT-6489217 MINT-8086502 MINT-6488488 MINT-8079030 STRING: ENSP00000360671
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    SLX1AQ9BQ833, ENSP000002513034I2D: score=2 STRING: ENSP00000251303
    SLX1BQ9BQ833, ENSP000003289404I2D: score=2 STRING: ENSP00000328940
    SLC25A6P122362, ENSP000003708084MINT-6489217 MINT-6488488 STRING: ENSP00000370808
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0006754ATP biosynthetic process IDA12851387
    GO:0006810transport NAS10642534

    SLC25A13 for ontologies           About GeneDecksing



    (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 SLC25A13 (CMC2)

    2 HMDB Compounds for SLC25A13    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 SLC25A13    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--17228780 17237342 17213189 17354380 17591776

    Selected Novoseek inferred chemical compound relationships for SLC25A13 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    citrulline 87.4 6 16449956 (1), 18578996 (1), 17332192 (1), 18207281 (1) (see all 6)
    aspartate 54.2 19 11566871 (3), 15254020 (2), 16199199 (2), 15494407 (1) (see all 8)
    urea 53.9 16 12602510 (2), 15050970 (2), 16613706 (1), 16199199 (1) (see all 7)
    methionine 52.2 3 18578996 (1), 17332192 (1), 12692712 (1)
    nadh 46.6 5 16199199 (2), 12602510 (1), 17591776 (1), 16458993 (1)
    galactose 42.6 3 18207281 (1), 19951499 (1), 12692712 (1)
    threonine 38.8 1 17332192 (1)
    glutamate 36.7 17 11566871 (3), 15254020 (2), 15494407 (1), 17160946 (1) (see all 7)
    udpglucose 36.2 3 16736097 (1)
    nad+ 29.5 2 16458993 (1), 16199199 (1)



    SLC25A13 for compounds           About GeneDecksing



    (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 SLC25A13 gene (2 alternative transcripts): 
    NM_001160210.1  NM_014251.2  

    Unigene Cluster for SLC25A13:

    Solute carrier family 25 (aspartate/glutamate carrier), member 13
    Hs.489190  [show with all ESTs]
    Unigene Representative Sequence: NM_001160210
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265631 ENST00000494085 ENST00000490072 ENST00000484495 ENST00000492869
    ENST00000472162 ENST00000487710 ENST00000416240(uc003uog.4 uc003uof.4 uc011kik.2)
    ENST00000542654
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SLC25A13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC25A13 (see all 9):
    hsa-miR-200c* hsa-miR-130a* hsa-miR-23c hsa-miR-520a-5p hsa-miR-550a* hsa-miR-525-5p hsa-miR-23b hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A13 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SLC25A13
    Predesigned siRNA for gene silencing in human, mouse, rat SLC25A13
    Clone
    Products:
         
    OriGene clones in human, mouse for SLC25A13 (see all 13)
    OriGene ORF clones in mouse, rat for SLC25A13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SLC25A13 (NM_014251)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC25A13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A13
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SLC25A13
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC25A13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC25A13
      QuantiTect SYBR Green Assays in human, mouse, rat SLC25A13
      QuantiFast Probe-based Assays in human, mouse, rat SLC25A13

    Additional mRNA sequence: 

    AB593184.1 AF118838.1 AJ496569.1 AK000766.1 AK025227.1 AK025779.1 AK130552.1 AK222864.1 
    AK294629.1 BC006566.2 NR_027662.1 Y17571.1 

    11 DOTS entries:

    DT.313984  DT.121105022  DT.99941371  DT.121105196  DT.91767232  DT.421775  DT.65285569  DT.91767228 
    DT.91767233  DT.97796763  DT.75163794 

    Selected AceView cDNA sequences (see all 163):

    BG492615 AL701886 AI267987 AI573119 AI915957 Z40674 AI061340 AW575771 
    AK000766 BU189322 AA580080 BQ439542 BE220097 AK025779 AK025227 AA410516 
    AI298592 BQ434908 AI962674 CR606013 AA722812 AW236544 BE874302 AL555051 

    GeneLoc Exon Structure


    (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

    SLC25A13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTTGTGAA
    SLC25A13 Expression
    About this image


    SLC25A13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    SLC25A13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.489190

    UniProtKB/Swiss-Prot: CMC2_HUMAN, Q9UJS0
    Tissue specificity: High levels in liver and low levels in kidney, pancreas, placenta, heart and brain

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC25A13: 
              Mitochondria in human mouse rat
              Drug Transporters in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SLC25A13
    OriGene qSTAR qPCR primer pairs in human, mouse for SLC25A13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC25A13
    QuantiTect SYBR Green Assays in human, mouse, rat SLC25A13
    QuantiFast Probe-based Assays in human, mouse, rat SLC25A13
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A13

    (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 SLC25A13 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a131 , 5 solute carrier family 25 (mitochondrial carrier, adenine more1, 5 89(n)1
    95.84(a)1
      6 (2.30 cM)5
    507991  NM_001177572.11  NP_001171043.11 
     60412185 
    chicken
    (Gallus gallus)
    Aves SLC25A131 solute carrier family 25, member 13 (citrin) 82.73(n)
    92.81(a)
      428427  NM_001012949.1  NP_001012967.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A136
    solute carrier family 25 (aspartate/glutamate carr...
    89(a)
    1 ↔ 1
    6(22834422-22959433)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC691682 hypothetical protein MGC69168 78.93(n)    BC041739.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc25a136
    solute carrier family 25, member 13
    78(a)
    1 ↔ 1
    19(42253706-42343927) ENSDARG00000070172
    fruit fly
    (Drosophila melanogaster)
    Insecta aralar13 transport carrier 58(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea K02F3.23   -- 53(a)   III(845852-850264)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AGC1(YPR021C)4 Mitochondrial amino acid transporter, acts both as more   --   16(603357-600649) 856132  NP_015346.1 


    ENSEMBL Gene Tree for SLC25A13 (if available)
    TreeFam Gene Tree for SLC25A13 (if available)

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

    TryGeneCards Plus
    Paralogs for SLC25A13 gene
    SLC25A122  SLC25A182  SLC25A442  SLC25A222  
    9 SIMAP similar genes for SLC25A13 using alignment to 5 protein entries:     CMC2_HUMAN (see all proteins):
    SLC25A12    SLC25A22    SLC25A18    SLC25A20    FLJ00351    LOC283130
    SLC25A45    SLC25A21    SLC25A29

    SLC25A13 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC25A13
    PGOHUM00000239723


    (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 SLC25A13 (see all 3628)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0166014
    Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD)4--see VAR_0166012 E K mis40--------
    rs803387271,2
    Cpathogenic199057387(-) CTTACA/G/TAATTG 8 K E * mis1 stg10--------
    rs803387221,2
    Cpathogenic199119960(-) TAGAGA/GTTAGT 3 -- spd10--------
    rs803387211,2
    Cpathogenic199120060(-) ACCAAC/TGATCA 5 R * stg10--------
    rs803387191,2
    Cpathogenic199126873(-) TAATTA/CGCTCC 5 * S stg10--------
    rs803387171,2
    Cpathogenic199128714(-) TGTAAA/GTTGTA 3 -- int10--------
    rs105493391,2
    C--90394902(+) TTGGAAAAC/-  
            
    AAACA
    3 -- int11Minor allele frequency- -:0.50CSA 2
    rs750368081,2
    --90462271(+) CAAAAA/GAAAAA 3 -- int11Minor allele frequency- G:0.00CSA 1
    rs755417731,2
    C--90495581(-) TTTGTC/GGAAGG 3 -- int12Minor allele frequency- G:0.00NA 4
    rs341752711,2
    C--95170467(+) GTGTG-/AACCTA 3 -- int10--------

    HapMap Linkage Disequilibrium report for SLC25A13 (95749532 - 95951459 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SLC25A13:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663788CNV Deletion23128226
    esv2734851CNV Deletion23290073
    esv1986427CNV Deletion18987734
    esv1678533CNV Insertion17803354
    nsv510101CNV Loss20534489
    nsv888755CNV Loss21882294
    nsv888756CNV Gain21882294

    Human Gene Mutation Database (HGMD): SLC25A13
    Locus Specific Mutation Databases (LSDB): SLC25A13

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A13
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A13

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 603859   
    OMIM disorders: 603471  605814  
    UniProtKB/Swiss-Prot: CMC2_HUMAN, Q9UJS0
  • Citrullinemia 2 (CTLN2) [MIM:603471]: A form of citrullinemia, an autosomal recessive disease
    characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another
    manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors,
    loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the
    ages of 20 and 50 years. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) [MIM:605814]: A form of
    citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low
    birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis
    due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate
    diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia
    type 2 with neuropsychiatric symptoms. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for SLC25A13 (see all 34):    
    About MalaCards
    adult-onset citrullinemia type ii    failure to thrive and dyslipidemia caused by citrin deficiency    neonatal intrahepatic cholestasis caused by citrin deficiency    citrin deficiency
    citrullinemia    urea cycle disorder    cholestasis    intrahepatic cholestasis
    brain edema    galactosemia    fatty acid oxidation disorders    hepatic encephalopathy
    tyrosinemia    ovarian cyst    nonalcoholic steatohepatitis    status epilepticus
    orofacial cleft    asperger syndrome    autosomal recessive disease    neural tube defects

    3 diseases from the University of Copenhagen DISEASES database for SLC25A13:
    Intrahepatic cholestasis     Galactosemia     Biliary atresia

    SLC25A13 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for SLC25A13 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ctln2 99.1 130 11153906 (5), 12602510 (3), 16449956 (2), 17160946 (2) (see all 39)
    citrullinemia 95.3 17 11281457 (1), 12409267 (1), 11211185 (1), 17000460 (1) (see all 13)
    cholestasis intrahepatic 92.9 95 12424587 (4), 18578996 (3), 17332192 (3), 16311094 (3) (see all 37)
    hepatitis neonatal 84.6 6 16059747 (1), 15050970 (1), 11793471 (1), 14680984 (1)
    galactosemias 83.6 5 16613706 (1), 18207281 (1), 19232506 (1), 18291102 (1) (see all 5)
    hyperammonemia 81 9 16449956 (1), 16613706 (1), 11211185 (1), 16736097 (1) (see all 7)
    hypoproteinemia 76.8 1 16613706 (1)
    jaundice cholestatic 74.6 3 12692712 (2), 11343052 (1)
    cholestasis 66 7 20200759 (1), 19405932 (1), 19951499 (1), 20479677 (1) (see all 7)
    fatty liver 57 12 18620775 (5), 16737877 (3), 19405932 (1), 16199199 (1) (see all 5)

    GeneTests: SLC25A13
    GeneReviews: SLC25A13
    Genetic Association Database (GAD): SLC25A13
    Human Genome Epidemiology (HuGE) Navigator: SLC25A13 (13 documents)

    Export disorders for SLC25A13 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 SLC25A13 gene, integrated from 10 sources (see all 146):
    (articles sorted by number of sources associating them with SLC25A13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. (PubMed id 11793471)1, 2, 4, 9 Yamaguchi N.... Saheki T. (Hum. Mutat. 2002)
    2. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. (PubMed id 10369257)1, 2, 3, 9 Kobayashi K.... Saheki T. (Nat. Genet. 1999)
    3. Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. (PubMed id 11153906)1, 4, 9 Yasuda T....Saheki T. (Hum. Genet. 2000)
    4. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. (PubMed id 16059747)1, 4, 9 Lu Y.B....Saheki T. (J. Hum. Genet. 2005)
    5. [Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. (PubMed id 20376801)1, 4, 9 Xing Y.Z....Gu X.F. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010)
    6. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. (PubMed id 11566871)1, 2, 9 Palmieri L....Palmieri F. (EMBO J. 2001)
    7. Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis. (PubMed id 20458766)1, 4, 9 Fu H.Y....Wang J.S. (World J. Gastroenterol. 2010)
    8. Characterization of a second member of the subfamily of calcium- binding mitochondrial carriers expressed in human non-excitable tissues. (PubMed id 10642534)1, 2, 9 Del Arco A.... Satrustegui J. (Biochem. J. 2000)
    9. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. (PubMed id 10610724)1, 2, 9 Sinasac D.S.... Tsui L.-C. (Genomics 1999)
    10. 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)

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

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 10165 HGNC: 10983 AceView: SLC25A13 Ensembl:ENSG00000004864 euGenes: HUgn10165
    ECgene: SLC25A13 H-InvDB: SLC25A13

    (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 SLC25A13 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC25A13[genesymbol]

    (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 SLC25A13 gene:
    Search GeneIP for patents involving SLC25A13

    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  
     OriGene Antibodies for SLC25A13   OriGene RNAi products in human, mouse, rat for SLC25A13  
     OriGene qPCR primer pairs and template standards for SLC25A13   OriGene Protein Over-expression Lysate for SLC25A13  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SLC25A13  
     OriGene qSTAR qPCR primer pairs in human, mouse for SLC25A13   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SLC25A13   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SLC25A13   OriGene Custom Protein Services for SLC25A13  

     
     
     Block miRNA regulation of human, mouse, rat SLC25A13 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SLC25A13
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A13 Predesigned siRNA for gene silencing in human, mouse, rat SLC25A13
     QuantiFast Probe-based Assays in human, mouse, rat SLC25A13 QuantiTect SYBR Green Assays in human, mouse, rat SLC25A13
     PCR Arrays including human, mouse, rat SLC25A13 Search Chromatin IP Primers for SLC25A13
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLC25A13  Search GeneGlobe Interaction Network for SLC25A13
     Regulatory tfbs in SLC25A13 promoter
     GenScript Custom Purified and Recombinant Proteins Services for SLC25A13 GenScript cDNA clones with any tag delivered in your preferred vector for SLC25A13
     GenScript Custom Assay Services for SLC25A13 GenScript Custom overexpressing Cell Line Services for SLC25A13
     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 SLC25A13 (CMC2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for SLC25A13
     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
     SLC25A13 antibodies
     SLC25A13 proteins
     SLC25A13 lysates
     Antibodies for SLC25A13
     See all of Abcam's Antibodies, Kits and Proteins for SLC25A13
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for SLC25A13
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A13
     SwitchGear 3'UTR luciferase reporter plasmids for SLC25A13
     SwitchGear Promoter luciferase reporter plasmids for SLC25A13
     ThermoFisher Antibody for SLC25A13
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC25A13
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC25A13
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLC25A13
     LSBio Antibodies in human, mouse, rat for SLC25A13
    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      SLC25A13 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4