SLC25A12 (solute carrier family 25 member 12)

2017-11-01 Affiliation

Identity

HGNC

SLC25A12

LOCATION

2q31.1

LOCUSID

8604

ALIAS

AGC1,ARALAR,DEE39,EIEE39

FUSION GENES

Show Gene Fusions

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: 8604
MIM: 603667
HGNC: 10982
Ensembl: ENSG00000115840

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000115840	ENST00000263812	F8W9J0
ENSG00000115840	ENST00000422440	O75746
ENSG00000115840	ENST00000426896	B4DGK6
ENSG00000115840	ENST00000475360	H0YFB2

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 of proteins	REACTOME	R-HSA-392499
Mitochondrial protein import	REACTOME	R-HSA-1268020
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glucose metabolism	REACTOME	R-HSA-70326
Gluconeogenesis	REACTOME	R-HSA-70263

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
19598235	2009	Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.	92
18607376	2010	Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1.	56
15056512	2004	Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism.	52
19401682	2010	High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.	52
18180767	2008	SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects.	33
17151801	2006	Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene.	32
18348195	2008	An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene.	27
16263864	2005	Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31.	25
15494407	2004	The malate-aspartate NADH shuttle member Aralar1 determines glucose metabolic fate, mitochondrial activity, and insulin secretion in beta cells.	24

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