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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC25A2 Gene

protein-coding GIFtS: 51
GCID: GC05M140662

solute carrier family 25 (mitochondrial carrier; ornithine...

Explore 2 diseases affiliated with
SLC25A2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 25 (Mitochondrial Carrier; Ornithine Transporter) Member 2¹ ²
ORNT2¹ ² ³ ⁵
Solute Carrier Family 25 Member 2² ³
ORC2²
Mitochondrial Ornithine Transporter 2²
Ornithine Transporter 2²

External Ids:	HGNC: 22921¹	Entrez Gene: 83884²	Ensembl: ENSG00000120329⁷	OMIM: 608157⁵	UniProtKB: Q9BXI2³

Export aliases for SLC25A2 gene to outside databases

Previous GC identifers: GC05M140665 GC05M140710 GC05M135827

(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 SLC25A2:

Located between the protocadherin beta and gamma gene clusters on chromosome 5, this intronless gene encodes a protein

that is highly similar to an ornithine transporter localized in the mitochondrial inner membrane. The encoded protein

most likely plays a role in metabolism as a mitochondrial transport protein. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ORNT2_HUMAN, Q9BXI2

Function: Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_029289.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC25A2 gene promoter:
AP-1 Sp1 NCX/Ncx Gfi-1 Evi-1 GATA-1 AREB6 POU2F1a ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC25A2 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC25A2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31 Ensembl cytogenetic band: 5q31.3 HGNC cytogenetic band: 5q31.3

SLC25A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A2 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M140662: view genomic region (about GC identifiers)

Start:	140,682,196 bp from pter	End:	140,683,612 bp from pter
Size:	1,417 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ORNT2_HUMAN, Q9BXI2 (See protein sequence)

Recommended Name: Mitochondrial ornithine transporter 2

Size: 301 amino acids; 32580 Da

Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein

Secondary accessions: Q496C1 Q6XUI0 Q8NFZ2

Explore the universe of human proteins at neXtProt for SLC25A2: NX_Q9BXI2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BXI2

SLC25A2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_114153.1

ENSEMBL proteins:

ENSP00000239451

Reactome Protein details: Q9BXI2
Human Recombinant Protein Products:

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	Uscn Proteins for SLC25A2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005743	mitochondrial inner membrane	TAS	--
GO:0016021	integral to membrane	IEA	--

SLC25A2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC25A2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC25A2 for domains About GeneDecksing

2 InterPro domains/families:

IPR023395 Mt_carrier_dom

IPR018108 Mitochondrial_sb/sol_carrier

Graphical View of Domain Structure for InterPro Entry Q9BXI2

ProtoNet protein and cluster: Q9BXI2

UniProtKB/Swiss-Prot: ORNT2_HUMAN, Q9BXI2

Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family

Similarity: Contains 3 Solcar repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ORNT2_HUMAN, Q9BXI2

Function: Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix

miRNA Products:		OriGene 3'-UTR Clone: SLC25A2 Browse MicroRNA Expression Plasmids
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		hsa-miR-491-3p
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A2

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000064	L-ornithine transmembrane transporter activity	NAS	--

SLC25A2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SLC25A2:

Synthetic lethal with Ras

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Metabolism

Metabolism

1.00

glutamate degradation X

Urea cycle

0.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Reactome Pathways for SLC25A2

	Metabolism
	Metabolism of amino acids and derivatives
	Urea cycle

SLC25A2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SLC25A2

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for SLC25A2 (ENSP00000239451⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ASS1	ENSP00000253004⁴	STRING: ENSP00000253004
OTC	ENSP00000039007⁴	STRING: ENSP00000039007

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000050	urea cycle	TAS	--
GO:0000066	mitochondrial ornithine transport	NAS	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

SLC25A2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC25A2

1 HMDB Compound for SLC25A2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Ornithine	(+)-S-Ornithine (see all 9)	70-26-8	--

1 DrugBank Compound for SLC25A2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Ornithine	(S)-2,5-Diaminopentanoate (see all 4)	70-26-8	target	--	16940241 11997094 12948741

Search CenterWatch for drugs/clinical trials and news about SLC25A2 / ORNT2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC25A2 gene:

NM_031947.2

Unigene Cluster for SLC25A2:

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

Hs.97647 [show with all ESTs]

Unigene Representative Sequence: NM_031947

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000239451(uc003ljf.3)

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate SLC25A2:
		hsa-miR-491-3p
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Additional cDNA sequence:

AF332005.1 AF378119.1 AY208943.1 BC069458.1 BC100935.2 BC100936.1 BC100937.2

1 DOTS entry:

DT.65284550

11 AceView cDNA sequences:

NM_031947 AY208943 AF332005 BX118364 BC069458 AA398593 AF378119 AI200784

AI208615 AA719056 AA393441

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

SLC25A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SLC25A2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SLC25A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC25A2

SOURCE GeneReport for Unigene cluster: Hs.97647

UniProtKB/Swiss-Prot: ORNT2_HUMAN, Q9BXI2

Tissue specificity: Expressed in liver, kidney, pancreas and cultured fibroblasts

SABiosciences Expression via Pathway-Focused PCR Array including SLC25A2:

Mitochondria in human mouse rat

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In Situ
Assay Products:

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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 eukaryotes.

Orthologs for SLC25A2 gene from 9/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Slc25a2⁵	solute carrier family 25 (mitochondrial carrier, ornithine more	--		18 (19.54 cM) 37637378
chicken (Gallus gallus)	Aves	Q5ZIW6_CHICK⁶	solute carrier family 25 (mitochondrial carrier; o...	76(a)	1 → many	1(174785291-174800876)
lizard (Anolis carolinensis)	Reptilia	-- --	--	75(a) 57(a)	many → 1 possible ortholog	1(132584192-132594034) GL343599.1(107685-121488)
zebrafish (Danio rerio)	Actinopterygii	slc25a15a⁶ slc25a15b⁶	solute carrier family 25 (mitochondrial carrier; o... solute carrier family 25 (mitochondrial carrier; o...	64(a) 62(a)	many ↔ many many ↔ many	15(3364313-3391454) 5(25825105-25832507)
fruit fly (Drosophila melanogaster)	Insecta	CG1628⁶	--	30(a)	1 → many	X(10492179-10496747)
worm (Caenorhabditis elegans)	Secernentea	T10F2.2⁶ R07B7.10⁶	Protein R07B7.10	45(a) 27(a)	many → 1 possible ortholog	III(5163716-5165274) V(12084407-12086309)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ORT1¹	Ort1p	44.82(n) 32.96(a)		854297 NP_014773.4
thale cress (Arabidopsis thaliana)	eudicotyledons	ATMBAC1⁶	Mitochondrial substrate carrier family protein	29(a)	1 → many	2(14306293-14308293)
rice (Oryza sativa)	Liliopsida	--	mitochondrial carrier protein, putative, expressed...	22(a)	1 → many	11(12869782-12878463)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SLC25A2 gene

SLC25A45² SLC25A15² SLC25A20² SLC25A48² SLC25A47² SLC25A29²

5 SIMAP similar genes for SLC25A2 using alignment to 1 protein entry: ORNT2_HUMAN:

SLC25A15 SLC25A20 SLC25A45 SLC25A48 SLC25A29

SLC25A2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

UniProtKB/Swiss-Prot: ORNT2_HUMAN, Q9BXI2

Polymorphism: Variant Cys-159 has a reduced ornithine transport activity, while variant Gly-181 has an increased

activity

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111292813^1,2	C,F,	--	140681697(+)	`CCACAT/AGAAGA`	1	--	ds500¹		2		NA CSA	4
rs56976484^1,2	C,F,	--	140681735(+)	`AGTGCG/ACATGT`	1	--	ds500¹		6		WA CSA NA EA	363
rs192776875^1,2		--	140681834(+)	`CTGAGA/GTCAGG`	1	--	ds500¹		0	--	--	--	--
rs143697533^1,2		--	140681916(+)	`GTGGCA/GGGCAC`	1	--	ds500¹		0	--	--	--	--
rs112428082^1,2	C,	--	140681962(+)	`GAATCG/ACTTGA`	1	--	ds500¹		1		NA	2
rs150973444^1,2		--	140681983(+)	`CAGAGG/TTTGCA`	1	--	ds500¹		0	--	--	--	--
rs140838403^1,2		--	140682212(+)	`ACAAAC/TGGCTT`	1	--	ut3¹		0	--	--	--	--
rs150159946^1,2		--	140682239(+)	`CAGAAC/TGATAT`	1	--	ut3¹		0	--	--	--	--
rs138633014^1,2		--	140682311(+)	`AAGAGC/TAGCAA`	1	--	ut3¹		0	--	--	--	--
rs189362695^1,2		--	140682405(+)	`AGAAGA/GGAAGA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SLC25A2 (140682196 - 140683612 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SLC25A2
1 CNV: 3578

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC25A2

DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC25A2 for disorders           About GeneDecksing

OMIM gene information: 608157    OMIM disorders: --

2 diseases for SLC25A2:    About MalaCards

urea cycle disorder citrullinemia

1 disease from the University of Copenhagen DISEASES database for SLC25A2:

Ornithine translocase deficiency

Human Genome Epidemiology (HuGE) Navigator: SLC25A2 (2 documents)

Export disorders for SLC25A2 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 SLC25A2 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with SLC25A2)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 12948741)^{1, 2, 7} Camacho J.A. III... Kong J. (2003)
Comparative DNA sequence analysis of mouse and human protocadherin gene clusters. (PubMed id 11230163)^{1, 2} Wu Q.... Maniatis T. (2001)
Mammalian mitochondrial inner membrane cationic and neutral amino acid carriers. (PubMed id 11004451)^{1, 3} Porter R.K. (2000)
Substrate specificity of the two mitochondrial ornithi ne carriers can be swapped by single mutation in substrate binding site. (PubMed id 22262851)¹ Monne M....Palmieri F. (2012)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)
Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)¹ Trynka G....Wijmenga C. (2009)
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. (PubMed id 16940241)⁷ Camacho J.A....Cederbaum S.D. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. (PubMed id 12807890)¹ Fiermonte G.... Walker J.E. (2003)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 83884	HGNC: 22921	AceView: SLC25A2	Ensembl:ENSG00000120329	euGenes: HUgn83884
ECgene: SLC25A2	H-InvDB: SLC25A2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SLC25A2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SLC25A2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SLC25A2 gene:
Search GeneIP for patents involving SLC25A2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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solute carrier family 25 (mitochondrial carrier; ornithine...

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