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Aliases for SLC25A13 Gene

Aliases for SLC25A13 Gene

  • Solute Carrier Family 25 Member 13 2 3 4
  • Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 13 2 3 5
  • Mitochondrial Aspartate Glutamate Carrier 2 2 3 4
  • ARALAR2 3 4
  • CITRIN 3 4
  • Solute Carrier Family 25, Member 13 (Citrin) 2
  • CTLN2 3

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 Member 13) is a Protein Coding gene. Diseases associated with SLC25A13 include Citrullinemia, Adult-Onset Type Ii and Citrullinemia, Type Ii, Neonatal-Onset. Among its related pathways are Glycosaminoglycan metabolism and Glucose metabolism. 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

Enhancers for SLC25A13 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC25A13 on UCSC Golden Path with GeneCards custom track

Promoters for SLC25A13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC25A13 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC25A13 Gene

Chromosome:
7
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

Genes around SLC25A13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 353 and Lys 484
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A13 Gene

No data available for DME Specific Peptides for SLC25A13 Gene

Domains & Families for SLC25A13 Gene

Gene Families for SLC25A13 Gene

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 :
  • Contains 4 EF-hand domains.
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Contains 3 Solcar repeats.
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:0005313 L-glutamate transmembrane transporter activity IEA,IDA 11566871
GO:0005509 calcium ion binding IEA,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

Human Phenotype Ontology for SLC25A13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC25A13 Gene

MGI Knock Outs for SLC25A13:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 3
nucleus 2
endoplasmic reticulum 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for SLC25A13 Gene

Pathways & Interactions for SLC25A13 Gene

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

Pathways by source for SLC25A13 Gene

Gene Ontology (GO) - Biological Process for SLC25A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process TAS --
GO:0006412 translation IBA --
GO:0015810 aspartate transport IEA,IDA 11566871
GO:0015813 L-glutamate transport IDA 11566871
GO:0043490 malate-aspartate shuttle IEA,IDA 11566871
genes like me logo Genes that share ontologies with SLC25A13: view

No data available for SIGNOR curated interactions for SLC25A13 Gene

Drugs & Compounds for SLC25A13 Gene

(8) Drugs for SLC25A13 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target, Target NMDA agonist 0
calcium Nutra 0

(6) Additional Compounds for SLC25A13 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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 (x7.3).

Protein differential expression in normal tissues from HIPED for SLC25A13 Gene

This gene is overexpressed in Liver (10.7), Nasal epithelium (10.2), and Breast (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SLC25A13: view

Protein tissue co-expression partners for SLC25A13 Gene

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia SLC25A13 35
  • 99.85 (n)
  • 100 (a)
SLC25A13 36
  • 100 (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
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a13 35
  • 78.07 (n)
  • 88.38 (a)
Str.2860 35
African clawed frog
(Xenopus laevis)
Amphibia MGC69168 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.273 35
zebrafish
(Danio rerio)
Actinopterygii slc25a13 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta aralar1 37
  • 58 (a)
aralar1 36
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K02F3.2 37
  • 53 (a)
K02F3.2 36
  • 51 (a)
OneToMany
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

(9) 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
VAR_016601 Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD)
rs1131697 - 96,208,885(-) GAAAA(A/G)AAAGA nc-transcript-variant, reference, missense
rs10255762 - 96,191,169(+) AATGA(G/T)TTCCA nc-transcript-variant, reference, missense, utr-variant-5-prime
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

Variation tolerance for SLC25A13 Gene

Residual Variation Intolerance Score: 7.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC25A13 Gene

Human Gene Mutation Database (HGMD)
SLC25A13

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

Disorders for SLC25A13 Gene

MalaCards: The human disease database

(26) MalaCards diseases for SLC25A13 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
citrullinemia, adult-onset type ii
  • citrin deficiency
citrullinemia, type ii, neonatal-onset
  • citrin deficiency
neonatal intrahepatic cholestasis due to citrin deficiency
  • citrullinemia, type ii, neonatal-onset
citrullinemia
  • ass deficiency
cholestasis
  • bile occlusion
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CMC2_HUMAN
  • 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.
  • 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.

Relevant External Links for SLC25A13

Genetic Association Database (GAD)
SLC25A13
Human Genome Epidemiology (HuGE) Navigator
SLC25A13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC25A13
genes like me logo Genes that share disorders with SLC25A13: view

No data available for Genatlas for SLC25A13 Gene

Publications for SLC25A13 Gene

  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. (PMID: 11793471) Yamaguchi N. … Saheki T. (Hum. Mutat. 2002) 3 4 23 48 67
  2. [Adult-onset citrullinemia]. (PMID: 17228780) Ikeda S. (No To Shinkei 2007) 23 25 26
  3. Mitochondrial transporters as novel targets for intracellular calcium signaling. (PMID: 17237342) SatrA_stegui J. … Del Arco A. (Physiol. Rev. 2007) 23 25 26
  4. [Adult-onset citrullinemia]. (PMID: 17354380) Ikeda S. (Brain Nerve 2007) 23 25 26
  5. Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency. (PMID: 17591776) Saheki T. … Kobayashi T. (J. Biol. Chem. 2007) 23 25 26

Products for SLC25A13 Gene

Sources for SLC25A13 Gene

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