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Aliases for SLC25A2 Gene

Aliases for SLC25A2 Gene

  • Solute Carrier Family 25 Member 2 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Carrier; Ornithine Transporter) Member 2 2 3
  • ORNT2 3 4
  • Mitochondrial Ornithine Transporter 2 3
  • ORC2 3

External Ids for SLC25A2 Gene

Previous GeneCards Identifiers for SLC25A2 Gene

  • GC05M140665
  • GC05M140710
  • GC05M140662
  • GC05M135827

Summaries for SLC25A2 Gene

Entrez Gene Summary for SLC25A2 Gene

  • This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. This gene is located between the protocadherin beta and gamma gene clusters on chromosome 5. [provided by RefSeq, Dec 2014]

GeneCards Summary for SLC25A2 Gene

SLC25A2 (Solute Carrier Family 25 Member 2) is a Protein Coding gene. Diseases associated with SLC25A2 include Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Metabolism. An important paralog of this gene is SLC25A15.

UniProtKB/Swiss-Prot for SLC25A2 Gene

  • Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A2 Gene

Genomics for SLC25A2 Gene

Regulatory Elements for SLC25A2 Gene

Enhancers for SLC25A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SLC25A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC25A2 Gene

Chromosome:
5
Start:
141,302,629 bp from pter
End:
141,304,063 bp from pter
Size:
1,435 bases
Orientation:
Minus strand

Genomic View for SLC25A2 Gene

Genes around SLC25A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A2 Gene

Proteins for SLC25A2 Gene

  • Protein details for SLC25A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXI2-ORNT2_HUMAN
    Recommended name:
    Mitochondrial ornithine transporter 2
    Protein Accession:
    Q9BXI2
    Secondary Accessions:
    • Q496C1
    • Q6XUI0
    • Q8NFZ2

    Protein attributes for SLC25A2 Gene

    Size:
    301 amino acids
    Molecular mass:
    32580 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC25A2 Gene

Post-translational modifications for SLC25A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A2 Gene

Domains & Families for SLC25A2 Gene

Gene Families for SLC25A2 Gene

Protein Domains for SLC25A2 Gene

Suggested Antigen Peptide Sequences for SLC25A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXI2

UniProtKB/Swiss-Prot:

ORNT2_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Contains 3 Solcar repeats.
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 SLC25A2: view

Function for SLC25A2 Gene

Molecular function for SLC25A2 Gene

UniProtKB/Swiss-Prot Function:
Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix.

Gene Ontology (GO) - Molecular Function for SLC25A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000064 L-ornithine transmembrane transporter activity EXP 12807890
GO:0003735 structural constituent of ribosome IBA --
genes like me logo Genes that share ontologies with SLC25A2: view

Phenotypes for SLC25A2 Gene

genes like me logo Genes that share phenotypes with SLC25A2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A2

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A2 Gene

Localization for SLC25A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A2 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC25A2 Gene COMPARTMENTS Subcellular localization image for SLC25A2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
endoplasmic reticulum 1
extracellular 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SLC25A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A2: view

Pathways & Interactions for SLC25A2 Gene

genes like me logo Genes that share pathways with SLC25A2: view

Pathways by source for SLC25A2 Gene

Interacting Proteins for SLC25A2 Gene

Gene Ontology (GO) - Biological Process for SLC25A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000050 urea cycle TAS --
GO:0006412 translation IBA --
GO:1903352 L-ornithine transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC25A2: view

No data available for SIGNOR curated interactions for SLC25A2 Gene

Drugs & Compounds for SLC25A2 Gene

(1) Drugs for SLC25A2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ornithine Approved Nutra Full agonist, Agonist, Target 67
genes like me logo Genes that share compounds with SLC25A2: view

Transcripts for SLC25A2 Gene

mRNA/cDNA for SLC25A2 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC25A2 Gene

Solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A2 Gene

No ASD Table

Relevant External Links for SLC25A2 Gene

GeneLoc Exon Structure for
SLC25A2
ECgene alternative splicing isoforms for
SLC25A2

Expression for SLC25A2 Gene

mRNA expression in normal human tissues for SLC25A2 Gene

mRNA differential expression in normal tissues according to GTEx for SLC25A2 Gene

This gene is overexpressed in Testis (x30.7).

NURSA nuclear receptor signaling pathways regulating expression of SLC25A2 Gene:

SLC25A2

SOURCE GeneReport for Unigene cluster for SLC25A2 Gene:

Hs.97647

mRNA Expression by UniProt/SwissProt for SLC25A2 Gene:

Q9BXI2-ORNT2_HUMAN
Tissue specificity: Expressed in liver, kidney, pancreas and cultured fibroblasts.
genes like me logo Genes that share expression patterns with SLC25A2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SLC25A2 Gene

Orthologs for SLC25A2 Gene

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

Orthologs for SLC25A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC25A2 34
  • 86.49 (n)
  • 86.71 (a)
dog
(Canis familiaris)
Mammalia LOC102151234 34
  • 86.16 (n)
  • 87.04 (a)
SLC25A2 35
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC25A2 34
  • 99.78 (n)
  • 99.67 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 81 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Slc25a2 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 79 (a)
ManyToMany
-- 35
  • 81 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SLC25A15 35
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 75 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC108450 34
  • 74.22 (n)
  • 74.33 (a)
zebrafish
(Danio rerio)
Actinopterygii slc25a15b 35
  • 61 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1628 35
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T10F2.2 35
  • 45 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ORT1 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
Species where no ortholog for SLC25A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 SLC25A2 Gene

ENSEMBL:
Gene Tree for SLC25A2 (if available)
TreeFam:
Gene Tree for SLC25A2 (if available)

Paralogs for SLC25A2 Gene

Paralogs for SLC25A2 Gene

(5) SIMAP similar genes for SLC25A2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC25A2: view

Variants for SLC25A2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A2 Gene

ORNT2_HUMAN-Q9BXI2
Variant Cys-159 has a reduced ornithine transport activity, while variant Gly-181 has an increased activity.

Sequence variations from dbSNP and Humsavar for SLC25A2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10075302 - 141,303,391(+) GATAC(A/C/T)CTTCA reference, missense
rs3749779 - 141,303,324(-) AGAAG(G/T)ACCGG reference, missense
rs3749780 - 141,303,190(-) GGCTT(A/G/T)TCGTG reference, missense
rs28607677 -- 141,305,786(+) TGAAC(G/T)TGCCC upstream-variant-2KB
rs7705024 -- 141,305,211(+) ataAA(C/G)TAGAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SLC25A2 Gene

Variant ID Type Subtype PubMed ID
esv2759382 CNV gain 17122850
nsv428127 CNV loss 18775914

Variation tolerance for SLC25A2 Gene

Residual Variation Intolerance Score: 86.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.08; 84.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC25A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A2

Disorders for SLC25A2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC25A2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
  • hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC25A2

Genetic Association Database (GAD)
SLC25A2
Human Genome Epidemiology (HuGE) Navigator
SLC25A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC25A2
genes like me logo Genes that share disorders with SLC25A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC25A2 Gene

Publications for SLC25A2 Gene

  1. Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. (PMID: 12948741) Camacho J.A. III … Kong J. (Mol. Genet. Metab. 2003) 3 4 25 65
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 65
  4. Comparative DNA sequence analysis of mouse and human protocadherin gene clusters. (PMID: 11230163) Wu Q. … Maniatis T. (Genome Res. 2001) 3 4 65
  5. Mammalian mitochondrial inner membrane cationic and neutral amino acid carriers. (PMID: 11004451) Porter R.K. (Biochim. Biophys. Acta 2000) 2 3 65

Products for SLC25A2 Gene

Sources for SLC25A2 Gene

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