SLC25A2 solute carrier family 25 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A2provided by HGNC
Official Full Name: solute carrier family 25 member 2provided by HGNC
Primary source: HGNC:HGNC:22921
See related: Ensembl:ENSG00000120329 MIM:608157; AllianceGenome:HGNC:22921
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ORC2; ORNT2
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 5. [provided by RefSeq, Dec 2014]
Orthologs: all
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Genomic context

Location:: 5q31.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (141302635..141304049, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (141827934..141829348, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (140682202..140683616, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
characterized mutations of the proposed substrate binding site in ORC1 and ORC2; demonstrated that the residue at position 179 in the 2 soforms is largely responsible for the difference in their substrate specificity;concluded that Arg-179 is a key residue in the opening of the carrier to the matrix side
Title: Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
expression, reconstitution, functional characterization, and tissue distribution of two human isoforms ORC1 and ORC2
Title: The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
Here we identify a new intronless gene, ORNT2, located on chromosome 5.
Title: 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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92610 (e-PCR)
- UniSTS:87951

NoName (e-PCR)
- UniSTS:480968

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-arginine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-lysine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-ornithine transmembrane transporter activity	EXP Inferred from Experiment more info	PubMed
enables L-ornithine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-ornithine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables antiporter activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in L-arginine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-lysine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-ornithine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial L-ornithine transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial L-ornithine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in ornithine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in urea cycle	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitochondrial ornithine transporter 2

Names: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.