Property Summary

NCBI Gene PubMed Count 29
PubMed Score 29.94
PubTator Score 47.04

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma -1.500 7.5e-03
atypical teratoid / rhabdoid tumor -1.400 3.3e-05
glioblastoma -1.600 2.8e-05
medulloblastoma -1.300 8.5e-07
medulloblastoma, large-cell -1.400 3.2e-05
hereditary spastic paraplegia -1.391 6.0e-03
adult high grade glioma -1.500 1.5e-04
Pick disease -1.400 2.3e-03
invasive ductal carcinoma -1.200 1.2e-03
ovarian cancer -1.200 1.6e-02

Gene RIF (11)

PMID Text
26863601 XDH and SUCLA2 genes associated with thiopurine-induced leukopenia can act in a complex interactive manner in patients with Crohn's disease.
25370487 The absence of SUCLA2 and SUCLG2 in human glia is in compliance with the presence of alternative pathways occurring in these cells, namely the GABA shunt and ketone body metabolism
24986829 SUCLA2 mutations should be analyzed in patients with slowly progressive encephalomyopathy, even in the absence of methylmalonic aciduria or mitochondrial DNA depletion.
24085565 This study demonstrated that SUCLA2 is expressed exclusively in neurons in the human cerebral cortex.
23759946 Identification of a novel mutation in SUCLA2 in two cousins affected with encephalomyopathy, is reported.
23010432 A novel homozygous mutation in SUCLA2 gene has been associated with severe mitochondrial encephalomyopathies in two Italian siblings.
22980518 3 novel mutations have been identified in patients with the mitochondrial DNA depletion syndrome (c.1048G>A and c.1049G>T in SUCLA2 and c.531+4A>T in SUCLG1).
22740690 X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the beta-subunit of succinyl-CoA synthetase (SUCLA2).
20877624 Observational study of gene-disease association. (HuGE Navigator)
19526370 Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase.
15877282 Deficiency of SUCLA2 is associated with encephalomyopathy and mitochondrial DNA depletion.

AA Sequence

MAASMFYGRLVAVATLRNHRPRTAQRAAAQVLGSSGLFNNHGLQVQQQQQRNLSLHEYMSMELLQEAGVS      1 - 70
VPKGYVAKSPDEAYAIAKKLGSKDVVIKAQVLAGGRGKGTFESGLKGGVKIVFSPEEAKAVSSQMIGKKL     71 - 140
FTKQTGEKGRICNQVLVCERKYPRREYYFAITMERSFQGPVLIGSSHGGVNIEDVAAESPEAIIKEPIDI    141 - 210
EEGIKKEQALQLAQKMGFPPNIVESAAENMVKLYSLFLKYDATMIEINPMVEDSDGAVLCMDAKINFDSN    211 - 280
SAYRQKKIFDLQDWTQEDERDKDAAKANLNYIGLDGNIGCLVNGAGLAMATMDIIKLHGGTPANFLDVGG    281 - 350
GATVHQVTEAFKLITSDKKVLAILVNIFGGIMRCDVIAQGIVMAVKDLEIKIPVVVRLQGTRVDDAKALI    351 - 420
ADSGLKILACDDLDEAARMVVKLSEIVTLAKQAHVDVKFQLPI                               421 - 463
//

Text Mined References (35)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26863601 2016 Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25370487 2015 Localization of SUCLA2 and SUCLG2 subunits of succinyl CoA ligase within the cerebral cortex suggests the absence of matrix substrate-level phosphorylation in glial cells of the human brain.
24986829 2015 Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24085565 2015 Exclusive neuronal expression of SUCLA2 in the human brain.
23759946 2013 The novel mutation p.Asp251Asn in the ?-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.
23010432 2012 A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
22980518 2012 Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
22740690 2012 X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the ?-subunit of succinyl-CoA synthetase (SUCLA2).
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
21782286 2011 A genome-wide association study of aging.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19526370 2010 A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18392745 2008 Disorders caused by deficiency of succinate-CoA ligase.
17301081 2007 SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
17287286 2007 Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
15877282 2005 Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.
15592455 2005 Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14643893 2004 The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10727444 2000 Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia.
10508479 1999 Antigens recognized by autologous antibody in patients with renal-cell carcinoma.
9765291 1998 Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.