SLC25A2 (solute carrier family 25 member 2)

2014-11-01  

Identity

HGNC
LOCATION
5q31.3
LOCUSID
ALIAS
ORC2,ORNT2

Other Information

Locus ID:

NCBI: 83884
MIM: 608157
HGNC: 22921
Ensembl: ENSG00000120329

Variants:

dbSNP: 83884
ClinVar: 83884
TCGA: ENSG00000120329
COSMIC: SLC25A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120329ENST00000239451Q9BXI2

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Urea cycleREACTOMER-HSA-70635
Metabolism of polyaminesREACTOMER-HSA-351202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.0
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.0
222628512012Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.24
222628512012Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.24
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
128078902003The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.38
129487412003Cloning 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.13
128078902003The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.38
129487412003Cloning 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.13

Citation

Dessen P

SLC25A2 (solute carrier family 25 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73342/slc25a2-(solute-carrier-family-25-member-2)