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

SLC25A13 Gene

protein-coding   GIFtS: 68
GCID: GC07M095749

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

(Previous names: solute carrier family 25, member 13 (citrin))
(Previous symbol: CTLN2)
Microbiology & Infectious Diseases Congress
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         
NONCODE14:n407953      

Export aliases for SLC25A13 gene to outside databases

Previous GC identifers: GC07M094284 GC07M095347 GC07M095361 GC07M095394 GC07M095587 GC07M090357


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

Entrez Gene summary for 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, and is affiliated with the lncRNA class. Diseases associated with SLC25A13 include citrin deficiency, and neonatal intrahepatic cholestasis caused by citrin deficiency, and among its related super-pathways are Glucose metabolism and MPS IIIC - Sanfilippo syndrome C. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC25A13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CMC2_HUMAN, Q9UJS0 (See protein sequence)
Recommended Name: Calcium-binding mitochondrial carrier protein Aralar2  
Size: 675 amino acids; 74176 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UJS0

  • SLC25A13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC25A13 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001153682.1  NP_055066.1  

    ENSEMBL proteins: 
     ENSP00000265631   ENSP00000473505   ENSP00000400101   ENSP00000440484  
    Reactome Protein details: Q9UJS0
    Human Recombinant Protein Products for SLC25A13: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    SLC25A13 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers
    EFHAND: EF-hand domain containing

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

    5 InterPro protein domains:
     IPR011992 EF-hand-like_dom
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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  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 - Custom generated mouse model solutions for SLC25A13 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC25A13 
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    SwitchGear 3'UTR luciferase reporter plasmidSLC25A13 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC25A13 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6        Reactome Pathways for SLC25A13 (see all 6)
        Gluconeogenesis
    Metabolism of carbohydrates
    Metabolism
    Mitochondrial Protein Import
    Glucose metabolism



    SLC25A13 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC25A13

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/334 Interacting proteins for SLC25A13 (Q9UJS02, 3 ENSP000002656314) via UniProtKB, MINT, STRING, and/or I2D (see all 334)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC25A5P051412MINT-6489217 MINT-8086502 MINT-6488488 MINT-8079030
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    SLX1AQ9BQ833, ENSP000002513034I2D: score=2 STRING: ENSP00000251303
    SLX1BQ9BQ833, ENSP000003289404I2D: score=2 STRING: ENSP00000328940
    HSPA9P386462MINT-6489217 MINT-8086502 MINT-8079030
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC25A13 for compounds           About GeneDecksing

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

    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

    10/13 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)

    Search CenterWatch for drugs/clinical trials and news about SLC25A13 / CMC2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

    24/163 AceView cDNA sequences (see all 163):

    BE220097 BM550716 AI298592 AK000766 NM_014251 CK821308 AW575771 AK025227 
    AF118838 AI267987 AJ496569 BU156761 BQ439542 BQ434908 CR606013 AW590535 
    AK025779 AW236544 BX098532 AI573119 AI357944 CK821307 AL555051 BU189322 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC25A13 expression in normal human tissues (normalized intensities)      SLC25A13 embryonic expression: see
    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 
     5/20 selected tissues (see all 20) 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 4 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
             kidney ; cells in tubules   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Umbilical cord blood-derived hematopoietic stem cells
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   

    See SLC25A13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A13

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including SLC25A13: 
              Mitochondria in human mouse rat
              Drug Transporters in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for SLC25A13 gene from 8/15 species (see all 15)    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
    77(a)
    1 ↔ 1
    19(42253706-42343927)
    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
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3628 SNPs in SLC25A13 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/31 diseases for SLC25A13 (see all 31):    About MalaCards
    citrin deficiency    neonatal intrahepatic cholestasis caused by citrin deficiency    failure to thrive and dyslipidemia caused by citrin deficiency    adult-onset citrullinemia type ii
    citrullinemia    urea cycle disorder    intrahepatic cholestasis    brain edema
    cholestasis    galactosemia    fatty acid oxidation disorders    hepatic encephalopathy
    tyrosinemia    ovarian cyst    nonalcoholic steatohepatitis    orofacial cleft
    autosomal recessive disease    status epilepticus    jaundice    neural tube defects

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

    SLC25A13 for disorders           About GeneDecksing

    10/22 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

    PubMed articles for SLC25A13 gene, integrated from 9 sources (see all 142):
    (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. (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. (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. (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. (2005)
    5. [Studies on the clinical manifestation and SLC25A13 g ene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency] (PubMed id 20376801)1, 4, 9 Xing Y.Z....Gu X.F. (2010)
    6. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. (PubMed id 11566871)1, 2, 9 Palmieri L....Palmieri F. (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. (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. (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. (1999)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 10165 HGNC: 10983 AceView: SLC25A13 Ensembl:ENSG00000004864 euGenes: HUgn10165
    ECgene: SLC25A13 H-InvDB: SLC25A13

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC25A13 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC25A13

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



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