Property Summary

NCBI Gene PubMed Count 12
PubMed Score 6.67
PubTator Score 32.99

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
astrocytoma -1.100 0.000
glioblastoma -1.200 0.000
oligodendroglioma -1.100 0.000
atypical teratoid / rhabdoid tumor -1.100 0.000
primary pancreatic ductal adenocarcinoma -1.533 0.003
breast carcinoma 1.900 0.000
adult high grade glioma -1.400 0.000
pilocytic astrocytoma -1.400 0.000
posterior fossa group B ependymoma -1.100 0.000
Pick disease -1.300 0.000
pancreatic cancer -1.700 0.001

Gene RIF (3)

PMID Text
24596948 SLC25A22 is responsible for migrating partial seizures in infancy, demonstrated by combining linkage analysis and whole exome sequencing.
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
19780765 A novel SLC25A22 mutation in an unrelated patient born from first cousin Algerian parents and presenting severe epileptic encephalopathy, is described.

AA Sequence

MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAA      1 - 70
VNLTLVTPEKAIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQ     71 - 140
RKILAAQGQLSAQGGAQPSVEAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFAN    141 - 210
LNQLGRPASEEKSPFYVSFLAGCVAGSAAAVAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEG    211 - 280
PSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQDPQA                               281 - 323
//

Text Mined References (16)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24596948 2013 SLC25A22 is a novel gene for migrating partial seizures in infancy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23266187 The mitochondrial transporter family SLC25: identification, properties and physiopathology.
21269460 2011 Initial characterization of the human central proteome.
19780765 2009 Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15592994 2005 Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.
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