Property Summary

NCBI Gene PubMed Count 36
PubMed Score 55.44
PubTator Score 49.07

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
malignant mesothelioma -1.900 9.4e-08
astrocytic glioma -1.300 3.3e-02
osteosarcoma -1.604 4.3e-02
ependymoma -1.200 1.7e-06
glioblastoma -2.200 3.7e-06
medulloblastoma -1.700 5.7e-05
atypical teratoid / rhabdoid tumor -2.200 1.2e-07
medulloblastoma, large-cell -2.200 1.7e-05
primitive neuroectodermal tumor -1.400 5.8e-04
juvenile dermatomyositis -1.057 1.6e-07
intraductal papillary-mucinous neoplasm ... 1.500 2.4e-02
lung cancer 1.200 1.9e-04
adult high grade glioma -1.800 4.2e-05
subependymal giant cell astrocytoma -1.180 3.5e-02
lung carcinoma 1.600 2.5e-31
Pick disease -1.800 4.8e-04
ovarian cancer 1.800 6.2e-05
Down syndrome -1.100 1.5e-02

Gene RIF (27)

PMID Text
25921325 rs2056202 and rs2292813 in SLC25A12 may contribute significantly to autism spectrum disorders risk.
25410934 Structure of the calcium bound and calcium free N- and C-terminal domains is described, elucidating the mechanism of calcium regulation.
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of solute carrier family 25, member 12 (SLC25A12, Aralar) expression by HIV-1 Vpr in Vpr transduced macrophages
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
21691713 The physiological roles of AGC1, its links to calcium homeostasis, and its involvement in autism pathogenesis, are reviewed.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19913066 This study found no differences in the allele, genotype, or haplotype frequencies of these two SNPs between patients and controls.
19913066 Observational study of gene-disease association. (HuGE Navigator)
19598235 Observational study of gene-disease association. (HuGE Navigator)
19401682 Observational study of gene-disease association. (HuGE Navigator)
19360665 SLC25A12 gene is associated with autism.
19360665 Observational study of gene-disease association. (HuGE Navigator)
19058789 Observational study of gene-disease association. (HuGE Navigator)
18607376 Variants of the AGC1-encoding SLC25A12 gene were neither correlated with AGC activation nor associated with autism-spectrum disorders in 309 simplex and 17 multiplex families.
18348195 Observational study of gene-disease association. (HuGE Navigator)
18180767 SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects.
17894412 rs2056202 polymorphism in SLC25A12 may be associated with levels of routines and rituals in autism and related disorders
17894412 Observational study of gene-disease association. (HuGE Navigator)
17693006 Observational study of gene-disease association. (HuGE Navigator)
17693006 it is unlikely that the SLC25A12 polymorphisms investigated play a substantial role in conferring susceptibility to schizophrenia
17151801 Observational study of gene-disease association. (HuGE Navigator)
16648338 Observational study of gene-disease association. (HuGE Navigator)
16648338 These results suggest that SLC25A12 is not a major contributor to autism risk in these families.
16263864 Observational study of gene-disease association. (HuGE Navigator)
16205742 Observational study of gene-disease association. (HuGE Navigator)
15494407 Aralar1 has a role in determining glucose metabolic fate, mitochondrial activity, and insulin secretion in beta cells
15056512 SLC25A12 gene is linked to autism

AA Sequence

MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDG      1 - 70
LISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHN     71 - 140
RKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSI    141 - 210
SHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNA    211 - 280
SGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLV    281 - 350
KTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRR    351 - 420
DGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLR    421 - 490
DIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGV    491 - 560
IDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPP    561 - 630
ANPDHIGGYRLATATFAGIENKFGLYLPKFKSPSVAVVQPKAAVAATQ                          631 - 678
//

Text Mined References (42)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25921325 2015 Association between genetic variants in SLC25A12 and risk of autism spectrum disorders: An integrated meta-analysis.
25410934 2014 Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers.
24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
24515575 2014 AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
23266187 The mitochondrial transporter family SLC25: identification, properties and physiopathology.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21691713 2011 The mitochondrial aspartate/glutamate carrier AGC1 and calcium homeostasis: physiological links and abnormalities in autism.
21609426 2011 A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
19913066 2010 Association study of the SLC25A12 gene and autism in Han Chinese in Taiwan.
19641205 2009 AGC1 deficiency associated with global cerebral hypomyelination.
19598235 2009 Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
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.
19360665 2008 Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism.
18996845 2009 Requirement for aralar and its Ca2+-binding sites in Ca2+ signal transduction in mitochondria from INS-1 clonal beta-cells.
18607376 2010 Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1.
18348195 2008 An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene.
18180767 2008 SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects.
17894412 2008 Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism.
17693006 2007 Association study of polymorphisms in the mitochondrial aspartate/glutamate carrier SLC25A12 (aralar) gene with schizophrenia.
17497669 2007 Role of aralar, the mitochondrial transporter of aspartate-glutamate, in brain N-acetylaspartate formation and Ca(2+) signaling in neuronal mitochondria.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17237342 2007 Mitochondrial transporters as novel targets for intracellular calcium signaling.
17151801 2006 Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene.
16648338 2006 Lack of association between autism and SLC25A12.
16263864 2005 Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31.
16205742 2006 SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.
16122696 2005 The human mitochondrial transport protein family: identification and protein regions significant for transport function and substrate specificity.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15494407 2004 The malate-aspartate NADH shuttle member Aralar1 determines glucose metabolic fate, mitochondrial activity, and insulin secretion in beta cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15056512 2004 Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11566871 2001 Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.
10965105 2000 Assignment of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridization.
10702666 1999 Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24.
10369257 1999 The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
9722566 1998 Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain.