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Aliases for SLC25A13 Gene

Aliases for SLC25A13 Gene

  • Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 13 2 3
  • Mitochondrial Aspartate Glutamate Carrier 2 2 3 4
  • Solute Carrier Family 25, Member 13 (Citrin) 2 3
  • ARALAR2 3 4
  • CITRIN 3 4
  • CTLN2 3 6
  • Calcium-Binding Mitochondrial Carrier Protein Aralar2 3
  • Solute Carrier Family 25 Member 13 4

External Ids for SLC25A13 Gene

Previous HGNC Symbols for SLC25A13 Gene

  • CTLN2

Previous GeneCards Identifiers for SLC25A13 Gene

  • GC07M094284
  • GC07M095347
  • GC07M095361
  • GC07M095394
  • GC07M095587
  • GC07M095749
  • GC07M090357

Summaries for SLC25A13 Gene

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 citrullinemia, type ii, neonatal-onset and citrullinemia, adult-onset type ii. Among its related pathways are Metabolism and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include calcium ion binding and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC25A22.

UniProtKB/Swiss-Prot for SLC25A13 Gene

  • Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A13 Gene

Genomics for SLC25A13 Gene

Regulatory Elements for SLC25A13 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC25A13 Gene

Start:
96,120,220 bp from pter
End:
96,322,147 bp from pter
Size:
201,928 bases
Orientation:
Minus strand

Genomic View for SLC25A13 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC25A13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A13 Gene

Proteins for SLC25A13 Gene

  • Protein details for SLC25A13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJS0-CMC2_HUMAN
    Recommended name:
    Calcium-binding mitochondrial carrier protein Aralar2
    Protein Accession:
    Q9UJS0
    Secondary Accessions:
    • O14566
    • O14575
    • Q546F9
    • Q9NZW1
    • Q9UNI7

    Protein attributes for SLC25A13 Gene

    Size:
    675 amino acids
    Molecular mass:
    74176 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Binds calcium
    SequenceCaution:
    • Sequence=AAB67049.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAB70112.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SLC25A13 Gene

    Alternative splice isoforms for SLC25A13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A13 Gene

Proteomics data for SLC25A13 Gene at MOPED

Post-translational modifications for SLC25A13 Gene

  • Ubiquitination at Lys353 and Lys484
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A13 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC25A13 Gene

Domains for SLC25A13 Gene

Gene Families for SLC25A13 Gene

HGNC:
  • EFHAND :EF-hand domain containing
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC25A13 Gene

Suggested Antigen Peptide Sequences for SLC25A13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UJS0

UniProtKB/Swiss-Prot:

CMC2_HUMAN :
  • Q9UJS0
Domain:
  • Contains 4 EF-hand domains.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity:
  • Contains 3 Solcar repeats.
genes like me logo Genes that share domains with SLC25A13: view

Function for SLC25A13 Gene

Molecular function for SLC25A13 Gene

GENATLAS Biochemistry: solute carrier family 25,mitochondrial,predominantly expressed in liver
UniProtKB/Swiss-Prot Function: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.

Gene Ontology (GO) - Molecular Function for SLC25A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 10642534
GO:0005313 L-glutamate transmembrane transporter activity IDA 11566871
GO:0005509 calcium ion binding IDA 10642534
GO:0015183 L-aspartate transmembrane transporter activity IDA 11566871
genes like me logo Genes that share ontologies with SLC25A13: view
genes like me logo Genes that share phenotypes with SLC25A13: view

Animal Models for SLC25A13 Gene

MGI Knock Outs for SLC25A13:

Animal Model Products

CRISPR Products

miRNA for SLC25A13 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC25A13 Gene

Localization for SLC25A13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A13 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC25A13 Gene COMPARTMENTS Subcellular localization image for SLC25A13 gene
Compartment Confidence
mitochondrion 5
plasma membrane 5
cytosol 2
nucleus 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC25A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005887 integral component of plasma membrane NAS 10642534
genes like me logo Genes that share ontologies with SLC25A13: view

Pathways for SLC25A13 Gene

genes like me logo Genes that share pathways with SLC25A13: view

Pathways by source for SLC25A13 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for SLC25A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS --
GO:0006754 ATP biosynthetic process IDA 12851387
GO:0006810 transport NAS 10642534
genes like me logo Genes that share ontologies with SLC25A13: view

Compounds for SLC25A13 Gene

(2) HMDB Compounds for SLC25A13 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
L-Aspartic acid
  • (+)-Aspartate
56-84-8

(1) Drugbank Compounds for SLC25A13 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Aspartic Acid
  • (+)-Aspartic acid
56-84-8 target

(13) Novoseek inferred chemical compound relationships for SLC25A13 Gene

Compound -log(P) Hits PubMed IDs
citrulline 87.4 6
aspartate 54.2 12
urea 53.9 9
methionine 52.2 3
nadh 46.6 5
genes like me logo Genes that share compounds with SLC25A13: view

Transcripts for SLC25A13 Gene

Unigene Clusters for SLC25A13 Gene

Solute carrier family 25 (aspartate/glutamate carrier), member 13:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC25A13

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A13 Gene

No ASD Table

Relevant External Links for SLC25A13 Gene

GeneLoc Exon Structure for
SLC25A13
ECgene alternative splicing isoforms for
SLC25A13

Expression for SLC25A13 Gene

mRNA expression in normal human tissues for SLC25A13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC25A13 Gene

This gene is overexpressed in Liver (7.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC25A13 Gene

SOURCE GeneReport for Unigene cluster for SLC25A13 Gene Hs.489190

mRNA Expression by UniProt/SwissProt for SLC25A13 Gene

Q9UJS0-CMC2_HUMAN
Tissue specificity: High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.
genes like me logo Genes that share expressions with SLC25A13: view

In Situ Assay Products

Orthologs for SLC25A13 Gene

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

Orthologs for SLC25A13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A13 35
  • 99.85 (n)
  • 100 (a)
SLC25A13 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A13 35
  • 92.01 (n)
  • 97.02 (a)
SLC25A13 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC25A13 35
  • 93.48 (n)
  • 97.33 (a)
SLC25A13 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a13 35
  • 89 (n)
  • 95.84 (a)
Slc25a13 16
Slc25a13 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC25A13 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A13 36
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A13 35
  • 82.73 (n)
  • 92.81 (a)
SLC25A13 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC25A13 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC69168 35
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a13 35
  • 78.07 (n)
  • 88.38 (a)
Str.2860 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.273 35
zebrafish
(Danio rerio)
Actinopterygii slc25a13 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta aralar1 36
  • 55 (a)
OneToOne
aralar1 37
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea K02F3.2 36
  • 51 (a)
OneToMany
K02F3.2 37
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGC1 36
  • 27 (a)
OneToMany
AGC1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for SLC25A13:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC25A13 Gene

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

Paralogs for SLC25A13 Gene

Paralogs for SLC25A13 Gene

Selected SIMAP similar genes for SLC25A13 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for SLC25A13 Gene

genes like me logo Genes that share paralogs with SLC25A13: view

Variants for SLC25A13 Gene

Sequence variations from dbSNP and Humsavar for SLC25A13 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs42996 -- 96,138,018(-) AGGTG(C/G)AGATG intron-variant
rs42997 -- 96,135,859(-) aaaaa(A/C)CCAAA intron-variant
rs42998 -- 96,135,733(-) CTGAT(A/G)CAGGC intron-variant
rs768172 -- 96,176,391(-) ATTTC(A/T)TTTGA intron-variant
rs1007452 -- 96,152,436(-) TATGA(C/T)TGTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A13 Gene

Variant ID Type Subtype PubMed ID
esv1986427 CNV Deletion 18987734
esv2734851 CNV Deletion 23290073
esv2663788 CNV Deletion 23128226
esv1678533 CNV Insertion 17803354
nsv888755 CNV Loss 21882294
nsv510101 CNV Loss 20534489
nsv888756 CNV Gain 21882294

Relevant External Links for SLC25A13 Gene

HapMap Linkage Disequilibrium report
SLC25A13
Human Gene Mutation Database (HGMD)
SLC25A13
Locus Specific Mutation Databases (LSDB)
SLC25A13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A13 Gene

Disorders for SLC25A13 Gene

(2) OMIM Diseases for SLC25A13 Gene (603859)

UniProtKB/Swiss-Prot

CMC2_HUMAN
  • 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. {ECO:0000269 PubMed:10369257, ECO:0000269 PubMed:10610724}. 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. {ECO:0000269 PubMed:11793471}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SLC25A13 Gene

(22) Novoseek inferred disease relationships for SLC25A13 Gene

Disease -log(P) Hits PubMed IDs
ctln2 99.1 53
citrullinemia 95.3 13
cholestasis intrahepatic 92.9 64
hepatitis neonatal 84.6 4
galactosemias 83.6 5

Relevant External Links for SLC25A13

GeneTests
SLC25A13
GeneReviews
SLC25A13
Genetic Association Database (GAD)
SLC25A13
Human Genome Epidemiology (HuGE) Navigator
SLC25A13
genes like me logo Genes that share disorders with SLC25A13: view

Publications for SLC25A13 Gene

  1. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. (PMID: 10369257) Kobayashi K. … Saheki T. (Nat. Genet. 1999) 2 3 4 23
  2. 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. (PMID: 11793471) Yamaguchi N. … Saheki T. (Hum. Mutat. 2002) 3 4 23 48
  3. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. (PMID: 16059747) Lu Y.B. … Saheki T. (J. Hum. Genet. 2005) 3 23 48
  4. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. (PMID: 11566871) Palmieri L. … Palmieri F. (EMBO J. 2001) 3 4 23
  5. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. (PMID: 10610724) Sinasac D.S. … Tsui L.-C. (Genomics 1999) 3 4 23

Products for SLC25A13 Gene

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Sources for SLC25A13 Gene

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