SLC25A2 (solute carrier family 25 member 2)

2014-11-01 Affiliation

Identity

HGNC

SLC25A2

LOCATION

5q31.3

LOCUSID

83884

ALIAS

ORC2,ORNT2

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000120329	ENST00000239451	Q9BXI2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Urea cycle	REACTOME	R-HSA-70635
Metabolism of polyamines	REACTOME	R-HSA-351202

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23266187	2013	The mitochondrial transporter family SLC25: identification, properties and physiopathology.	159
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75
12807890	2003	The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.	27
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
22262851	2012	Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.	11
12948741	2003	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.	9

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