SLC25A13 (solute carrier family 25 member 13)

2011-06-01  

Identity

HGNC
LOCATION
7q21.3
LOCUSID
ALIAS
ARALAR2,CITRIN,CTLN2,NICCD
FUSION GENES

Other Information

Locus ID:

NCBI: 10165
MIM: 603859
HGNC: 10983
Ensembl: ENSG00000004864

Variants:

dbSNP: 10165
ClinVar: 10165
TCGA: ENSG00000004864
COSMIC: SLC25A13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000004864ENST00000265631Q9UJS0
ENSG00000004864ENST00000416240Q9UJS0
ENSG00000004864ENST00000472162R4GN64

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

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

References

Pubmed IDYearTitleCitations
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.159
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
194016822010High-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
121113662002Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).43
160597472005Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.25
111539062000Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.24
183925532008Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency.24
254109342014Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers.24
186207752008Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease.20

Citation

Dessen P

SLC25A13 (solute carrier family 25 member 13)

Atlas Genet Cytogenet Oncol Haematol. 2011-06-01

Online version: http://atlasgeneticsoncology.org/gene/52240/slc25a13