SLC25A2 (solute carrier family 25 member 2)

Gene

• Entrez ID: 83884
• Gene name: Solute carrier family 25 member 2
• Gene symbol: SLC25A2
• Synonyms (NCBI Gene): ORC2, ORNT2
• Chromosome: 5
• Chromosome location: 5q31.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043873	hsa-miR-378a-3p	CLASH	23622248
MIRT667105	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT667104	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT667103	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT667102	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT667101	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT667100	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT667099	hsa-miR-3926	HITS-CLIP	23824327
MIRT667098	hsa-miR-548s	HITS-CLIP	23824327
MIRT667105	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT667104	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT667103	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT667102	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT667101	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT667100	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT667099	hsa-miR-3926	HITS-CLIP	23824327
MIRT667098	hsa-miR-548s	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	TAS
GO:0000064	Function	L-ornithine transmembrane transporter activity	EXP	12807890, 12948741
GO:0000064	Function	L-ornithine transmembrane transporter activity	IBA
GO:0000064	Function	L-ornithine transmembrane transporter activity	IDA	26403849
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	12948741
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006591	Process	Ornithine metabolic process	IMP	12948741
GO:0015189	Function	L-lysine transmembrane transporter activity	IDA	26403849
GO:0015297	Function	Antiporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0061459	Function	L-arginine transmembrane transporter activity	IDA	26403849
GO:1903352	Process	L-ornithine transmembrane transport	IDA	26403849
GO:1903401	Process	L-lysine transmembrane transport	IDA	26403849
GO:1903826	Process	L-arginine transmembrane transport	IDA	26403849
GO:1990575	Process	Mitochondrial L-ornithine transmembrane transport	IBA
GO:1990575	Process	Mitochondrial L-ornithine transmembrane transport	IDA	12807890

Other IDs

• MIM: 608157
• HGNC: 22921
• e!Ensembl: ENSG00000120329

Protein

• UniProt ID: Q9BXI2
• Protein name: Mitochondrial ornithine transporter 2 (Solute carrier family 25 member 2)
• Protein function: Mitochondrial transporter of the positively charged amino acids ornithine, lysine and arginine, and the neutral amino acid citrulline (PubMed:12807890). In addition, transports the basic amino acids histidine, homoarginine, and asymmetric dimeth
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	6 → 96	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	103 → 202	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	205 → 298	Mitochondrial carrier protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in liver, testis, spleen, lung, pancreas, and small intestine and expressed poorly in other tissues. {ECO:0000269|PubMed:12807890}.
• Sequence:

  MKSGPGIQAAIDLTAGAAGGTACVLTGQPFDTIKVKMQTFPDLYKGLTDCFLKTYAQVGL
  RGFYKGTGPALMAYVAENSVLFMCYGFCQQFVRKVAGMDKQAKLSDLQTAAAGSFASAFA
  ALALCPTELVKCRLQTMYEMEMSGKIAKSHNTIWSVVKGILKKDGPLGFYHGLSSTLLQE
  VPGYFFFFGGYELSRSFFASGRSKDELGPVHLMLSGGVAGICLWLVVFPVDCIKSRIQVL
  SMYGKQAGFIGTLLSVVRNEGIVALYSGLKATMIRAIPANGALFVAYEYSRKMMMKQLEA
  Y

• Sequence length: 301

Pathways

Reactome:

Urea cycle

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Hyperammonemia	Associate	30977266	★☆☆☆☆ Found in Text Mining only
Liver Failure	Associate	30977266	★☆☆☆☆ Found in Text Mining only