Property Summary

NCBI Gene PubMed Count 29
Grant Count 840
R01 Count 401
Funding $134,266,854.14
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 0.007
atypical teratoid / rhabdoid tumor -1.400 0.000
glioblastoma -1.600 0.000
medulloblastoma -1.300 0.000
medulloblastoma, large-cell -1.400 0.000
hereditary spastic paraplegia -1.391 0.006
adult high grade glioma -1.500 0.000
Pick disease -1.400 0.002
invasive ductal carcinoma -1.200 0.001
ovarian cancer -1.200 0.016

Synonym

Accession Q9P2R7 B2RDE7 O95194 Q5T9Q4 Q5T9Q6 Q9NV21 Q9NVP7
Symbols A-SCS
A-BETA
MTDPS5
SCS-betaA

Gene

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.
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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.
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