SLC25A20 (solute carrier family 25 member 20)

2017-11-01  

Identity

HGNC
SLC25A20
LOCATION
3p21.31
LOCUSID
788
ALIAS
CAC,CACT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 788
MIM: 613698
HGNC: 1421
Ensembl: ENSG00000178537

Variants:

dbSNP: 788
ClinVar: 788
TCGA: ENSG00000178537
COSMIC: SLC25A20

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178537ENST00000319017O43772
ENSG00000178537ENST00000430379C9JPE1
ENSG00000178537ENST00000440964F8WEF6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Import of palmitoyl-CoA into the mitochondrial matrixREACTOMER-HSA-200425

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.159
225602242012Ablation of steroid receptor coactivator-3 resembles the human CACT metabolic myopathy.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
286716722017Deregulation of MicroRNAs mediated control of carnitine cycle in prostate cancer: molecular basis and pathophysiological consequences.17
153659882004Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.15
150579792004Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.9
211307402011Role of FOXA and Sp1 in mitochondrial acylcarnitine carrier gene expression in different cell lines.7
175082642007Prospective treatment in carnitine-acylcarnitine translocase deficiency.5
197484812009Regulation of the human SLC25A20 expression by peroxisome proliferator-activated receptor alpha in human hepatoblastoma cells.5
183071022008Functional characterization of residues within the carnitine/acylcarnitine translocase RX2PANAAXF distinct motif.4

Citation

Dessen P

SLC25A20 (solute carrier family 25 member 20)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/gene/57257/slc25a20