SLC25A12 (solute carrier family 25 member 12)

2017-11-01  

Identity

HGNC
SLC25A12
LOCATION
2q31.1
LOCUSID
8604
ALIAS
AGC1,ARALAR,DEE39,EIEE39
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8604
MIM: 603667
HGNC: 10982
Ensembl: ENSG00000115840

Variants:

dbSNP: 8604
ClinVar: 8604
TCGA: ENSG00000115840
COSMIC: SLC25A12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115840ENST00000263812F8W9J0
ENSG00000115840ENST00000422440O75746
ENSG00000115840ENST00000426896B4DGK6
ENSG00000115840ENST00000475360H0YFB2

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
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
GluconeogenesisREACTOMER-HSA-70263

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
317676822020The microRNAs miR-302b and miR-372 regulate mitochondrial metabolism via the SLC25A12 transporter, which controls MAVS-mediated antiviral innate immunity.24
323193662020[Prognostic Value of SLC25A12 Expression in Patients with Acute Myeloid Leukemia Based on Integrated Analysis of Multi-dimensional Clinical Data].0
317676822020The microRNAs miR-302b and miR-372 regulate mitochondrial metabolism via the SLC25A12 transporter, which controls MAVS-mediated antiviral innate immunity.24
323193662020[Prognostic Value of SLC25A12 Expression in Patients with Acute Myeloid Leukemia Based on Integrated Analysis of Multi-dimensional Clinical Data].0
285369232017Single Nucleotide Polymorphisms in SLC19A1 and SLC25A9 Are Associated with Childhood Autism Spectrum Disorder in the Chinese Han Population.6
285369232017Single Nucleotide Polymorphisms in SLC19A1 and SLC25A9 Are Associated with Childhood Autism Spectrum Disorder in the Chinese Han Population.6
256631992016Mitochondrial Aspartate/Glutamate Carrier SLC25A12 and Autism Spectrum Disorder: a Meta-Analysis.8
271329952016AGC1/2, the mitochondrial aspartate-glutamate carriers.49
256631992016Mitochondrial Aspartate/Glutamate Carrier SLC25A12 and Autism Spectrum Disorder: a Meta-Analysis.8
271329952016AGC1/2, the mitochondrial aspartate-glutamate carriers.49
259213252015Association between genetic variants in SLC25A12 and risk of autism spectrum disorders: An integrated meta-analysis.8
259213252015Association between genetic variants in SLC25A12 and risk of autism spectrum disorders: An integrated meta-analysis.8
254109342014Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers.47
254109342014Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers.47
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.0

Citation

Dessen P

SLC25A12 (solute carrier family 25 member 12)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/gene/57252/slc25a12-(solute-carrier-family-25-member-12)