SUCLA2 (succinate-CoA ligase ADP-forming subunit beta)

2014-11-01  

Identity

HGNC
SUCLA2
LOCATION
13q14.2
LOCUSID
8803
ALIAS
A-BETA,A-SCS,LINC00444,MTDPS5,SCS-betaA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8803
MIM: 603921
HGNC: 11448
Ensembl: ENSG00000136143

Variants:

dbSNP: 8803
ClinVar: 8803
TCGA: ENSG00000136143
COSMIC: SUCLA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136143ENST00000433022Q5T9Q8
ENSG00000136143ENST00000434484Q5T9Q5
ENSG00000136143ENST00000470760A0A0U1RQF8
ENSG00000136143ENST00000493152A0A0U1RQL1
ENSG00000136143ENST00000497202A0A0U1RQU7
ENSG00000136143ENST00000634878A0A0U1RRI1
ENSG00000136143ENST00000642944A0A2R8YDQ9
ENSG00000136143ENST00000643023A0A2R8Y6Y7
ENSG00000136143ENST00000643246A0A2R8YF84
ENSG00000136143ENST00000643584Q9P2R7
ENSG00000136143ENST00000643584E5KS60
ENSG00000136143ENST00000644338A0A2R8Y5P6
ENSG00000136143ENST00000646602A0A2R8Y6E6
ENSG00000136143ENST00000646804A0A2R8YDQ9
ENSG00000136143ENST00000646932Q9P2R7
ENSG00000136143ENST00000646932E5KS60
ENSG00000136143ENST00000647361A0A2R8Y5P4

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Citrate cycle (TCA cycle)KEGGko00020
Propanoate metabolismKEGGko00640
Citrate cycle (TCA cycle)KEGGhsa00020
Propanoate metabolismKEGGhsa00640
Metabolic pathwaysKEGGhsa01100
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetateKEGGhsa_M00011
Citrate cycle (TCA cycle, Krebs cycle)KEGGM00009
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetateKEGGM00011
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Citrate cycle (TCA cycle, Krebs cycle)KEGGhsa_M00009
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Citric acid cycle (TCA cycle)REACTOMER-HSA-71403

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
158772822005Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.67
227406902012X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).25
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
230104322012A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.15
195263702010A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.12
264755972016Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.12
237599462013The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.11
229805182012Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.8
249868292015Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.6
240855652015Exclusive neuronal expression of SUCLA2 in the human brain.3

Citation

Dessen P

SUCLA2 (succinate-CoA ligase ADP-forming subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74351/sucla2-(succinate-coa-ligase-adp-forming-subunit-beta)