Property Summary

NCBI Gene PubMed Count 36
Grant Count 7
R01 Count 4
Funding $678,257.5
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 0.000
astrocytic glioma -1.300 0.033
osteosarcoma -1.604 0.043
ependymoma -1.200 0.000
glioblastoma -2.200 0.000
medulloblastoma -1.700 0.000
atypical teratoid / rhabdoid tumor -2.200 0.000
medulloblastoma, large-cell -2.200 0.000
primitive neuroectodermal tumor -1.400 0.001
juvenile dermatomyositis -1.057 0.000
intraductal papillary-mucinous neoplasm ... 1.500 0.024
lung cancer 1.200 0.000
adult high grade glioma -1.800 0.000
subependymal giant cell astrocytoma -1.180 0.035
lung carcinoma 1.600 0.000
Pick disease -1.800 0.000
ovarian cancer 1.800 0.000
Down syndrome -1.100 0.015

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)
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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.
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