SLC25A18 (solute carrier family 25 member 18)

2014-11-01  

Identity

HGNC
SLC25A18
LOCATION
22q11.21
LOCUSID
83733
ALIAS
GC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83733
MIM: 609303
HGNC: 10988
Ensembl: ENSG00000182902

Variants:

dbSNP: 83733
ClinVar: 83733
TCGA: ENSG00000182902
COSMIC: SLC25A18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182902ENST00000327451Q9H1K4
ENSG00000182902ENST00000327451A0A024R0W0
ENSG00000182902ENST00000399813Q9H1K4
ENSG00000182902ENST00000399813A0A024R0W0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Organic anion transportersREACTOMER-HSA-428643

References

Pubmed IDYearTitleCitations
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.159
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
223958672012A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.6

Citation

Dessen P

SLC25A18 (solute carrier family 25 member 18)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73341/slc25a18