Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8803
Gene name	Succinate-CoA ligase ADP-forming subunit beta
Gene symbol	SUCLA2
Synonyms (NCBI Gene)	A-BETAA-SCSLINC00444MTDPS5SCS-betaA
Chromosome	13
Chromosome location	13q14.2
Summary	Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimeri

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113994161	C>T	Pathogenic	Splice donor variant
rs121908537	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908538	G>A	Pathogenic	Missense variant, coding sequence variant
rs141295770	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs142289138	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200124902	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs370898100	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515462	C>T	Pathogenic	Coding sequence variant, missense variant
rs796052045	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1011464708	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1555256440	T>A	Pathogenic	Coding sequence variant, missense variant
rs1566091706	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1593477057	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1593479845	T>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (99)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023320	hsa-miR-122-5p	Microarray	17612493
MIRT023695	hsa-miR-1-3p	Proteomics	18668040
MIRT028494	hsa-miR-30a-5p	Proteomics	18668040
MIRT031701	hsa-miR-16-5p	Proteomics	18668040
MIRT038843	hsa-miR-93-3p	CLASH	23622248
MIRT1402224	hsa-miR-144	CLIP-seq
MIRT1402225	hsa-miR-630	CLIP-seq
MIRT2120524	hsa-miR-1231	CLIP-seq
MIRT2120525	hsa-miR-3607-3p	CLIP-seq
MIRT2120526	hsa-miR-3686	CLIP-seq
MIRT2120527	hsa-miR-4288	CLIP-seq
MIRT2120528	hsa-miR-4775	CLIP-seq
MIRT2120529	hsa-miR-590-3p	CLIP-seq
MIRT2120530	hsa-miR-632	CLIP-seq
MIRT2342658	hsa-miR-3128	CLIP-seq
MIRT2342659	hsa-miR-3149	CLIP-seq
MIRT2342660	hsa-miR-3713	CLIP-seq
MIRT2342661	hsa-miR-4470	CLIP-seq
MIRT2342662	hsa-miR-455-3p	CLIP-seq
MIRT2342663	hsa-miR-500a	CLIP-seq
MIRT2342664	hsa-miR-501-5p	CLIP-seq
MIRT2342665	hsa-miR-548g	CLIP-seq
MIRT2342666	hsa-miR-603	CLIP-seq
MIRT2636429	hsa-miR-1183	CLIP-seq
MIRT2120524	hsa-miR-1231	CLIP-seq
MIRT2636430	hsa-miR-127-5p	CLIP-seq
MIRT2636431	hsa-miR-141	CLIP-seq
MIRT2636432	hsa-miR-186	CLIP-seq
MIRT2636433	hsa-miR-200a	CLIP-seq
MIRT2636434	hsa-miR-2467-5p	CLIP-seq
MIRT2636435	hsa-miR-2681	CLIP-seq
MIRT2636436	hsa-miR-3133	CLIP-seq
MIRT2636437	hsa-miR-3188	CLIP-seq
MIRT2636438	hsa-miR-3189-3p	CLIP-seq
MIRT2636439	hsa-miR-320a	CLIP-seq
MIRT2636440	hsa-miR-320b	CLIP-seq
MIRT2636441	hsa-miR-320c	CLIP-seq
MIRT2636442	hsa-miR-320d	CLIP-seq
MIRT2120525	hsa-miR-3607-3p	CLIP-seq
MIRT2636443	hsa-miR-3613-3p	CLIP-seq
MIRT2636444	hsa-miR-3674	CLIP-seq
MIRT2636445	hsa-miR-3685	CLIP-seq
MIRT2120526	hsa-miR-3686	CLIP-seq
MIRT2636446	hsa-miR-384	CLIP-seq
MIRT2636447	hsa-miR-3907	CLIP-seq
MIRT2636448	hsa-miR-3934	CLIP-seq
MIRT2636449	hsa-miR-3975	CLIP-seq
MIRT2120527	hsa-miR-4288	CLIP-seq
MIRT2636450	hsa-miR-4302	CLIP-seq
MIRT2636451	hsa-miR-4429	CLIP-seq
MIRT2636452	hsa-miR-4434	CLIP-seq
MIRT2342661	hsa-miR-4470	CLIP-seq
MIRT2636453	hsa-miR-4516	CLIP-seq
MIRT2636454	hsa-miR-4633-5p	CLIP-seq
MIRT2636455	hsa-miR-4699-5p	CLIP-seq
MIRT2636456	hsa-miR-4729	CLIP-seq
MIRT2636457	hsa-miR-4742-3p	CLIP-seq
MIRT2636458	hsa-miR-4744	CLIP-seq
MIRT2120528	hsa-miR-4775	CLIP-seq
MIRT2636459	hsa-miR-485-5p	CLIP-seq
MIRT2636460	hsa-miR-532-5p	CLIP-seq
MIRT2636461	hsa-miR-548p	CLIP-seq
MIRT2636462	hsa-miR-548u	CLIP-seq
MIRT2636463	hsa-miR-552	CLIP-seq
MIRT2636464	hsa-miR-577	CLIP-seq
MIRT2120529	hsa-miR-590-3p	CLIP-seq
MIRT2120530	hsa-miR-632	CLIP-seq
MIRT2636465	hsa-miR-889	CLIP-seq
MIRT2636429	hsa-miR-1183	CLIP-seq
MIRT2636431	hsa-miR-141	CLIP-seq
MIRT2636432	hsa-miR-186	CLIP-seq
MIRT2636433	hsa-miR-200a	CLIP-seq
MIRT2636434	hsa-miR-2467-5p	CLIP-seq
MIRT2636435	hsa-miR-2681	CLIP-seq
MIRT2636436	hsa-miR-3133	CLIP-seq
MIRT2636437	hsa-miR-3188	CLIP-seq
MIRT2636439	hsa-miR-320a	CLIP-seq
MIRT2636440	hsa-miR-320b	CLIP-seq
MIRT2636441	hsa-miR-320c	CLIP-seq
MIRT2636442	hsa-miR-320d	CLIP-seq
MIRT2636443	hsa-miR-3613-3p	CLIP-seq
MIRT2636444	hsa-miR-3674	CLIP-seq
MIRT2636447	hsa-miR-3907	CLIP-seq
MIRT2636449	hsa-miR-3975	CLIP-seq
MIRT2636450	hsa-miR-4302	CLIP-seq
MIRT2636451	hsa-miR-4429	CLIP-seq
MIRT2636452	hsa-miR-4434	CLIP-seq
MIRT2692395	hsa-miR-4463	CLIP-seq
MIRT2342661	hsa-miR-4470	CLIP-seq
MIRT2636453	hsa-miR-4516	CLIP-seq
MIRT2636455	hsa-miR-4699-5p	CLIP-seq
MIRT2636456	hsa-miR-4729	CLIP-seq
MIRT2636457	hsa-miR-4742-3p	CLIP-seq
MIRT2636458	hsa-miR-4744	CLIP-seq
MIRT2636459	hsa-miR-485-5p	CLIP-seq
MIRT2636461	hsa-miR-548p	CLIP-seq
MIRT2636462	hsa-miR-548u	CLIP-seq
MIRT2636464	hsa-miR-577	CLIP-seq
MIRT2636465	hsa-miR-889	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004775	Function	Succinate-CoA ligase (ADP-forming) activity	IBA
GO:0004775	Function	Succinate-CoA ligase (ADP-forming) activity	IEA
GO:0004775	Function	Succinate-CoA ligase (ADP-forming) activity	TAS	10727444
GO:0005515	Function	Protein binding	IPI	10727444, 14643893, 26871637, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	10727444
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	32627745
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IBA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	NAS	32627745
GO:0006104	Process	Succinyl-CoA metabolic process	IBA
GO:0006104	Process	Succinyl-CoA metabolic process	IEA
GO:0006104	Process	Succinyl-CoA metabolic process	TAS	9765291
GO:0006105	Process	Succinate metabolic process	IEA
GO:0006781	Process	Succinyl-CoA pathway	NAS	10727444
GO:0009361	Component	Succinate-CoA ligase complex (ADP-forming)	NAS	32627745
GO:0016874	Function	Ligase activity	IEA
GO:0042709	Component	Succinate-CoA ligase complex	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1901289	Process	Succinyl-CoA catabolic process	NAS	32627745

MIM	HGNC	e!Ensembl
603921	11448	ENSG00000136143

Q9P2R7

Protein name

Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (EC 6.2.1.5) (ATP-specific succinyl-CoA synthetase subunit beta) (A-SCS) (Succinyl-CoA synthetase beta-A chain) (SCS-betaA)

Protein function

ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA (PubMed:15877282, PubM

PDB

6G4Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08442	ATP-grasp_2	54 → 262	ATP-grasp domain	Domain
PF00549	Ligase_CoA	321 → 441	CoA-ligase	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Not expressed in liver and lung. {ECO:0000269|PubMed:9765291}.

Sequence

MAASMFYGRLVAVATLRNHRPRTAQRAAAQVLGSSGLFNNHGLQVQQQQQRNLSLHEYMS
MELLQEAGVSVPKGYVAKSPDEAYAIAKKLGSKDVVIKAQVLAGGRGKGTFESGLKGGVK
IVFSPEEAKAVSSQMIGKKLFTKQTGEKGRICNQVLVCERKYPRREYYFAITMERSFQGP
VLIGSSHGGVNIEDVAAESPEAIIKEPIDIEEGIKKEQALQLAQKMGFPPNIVESAAENM
VKLYSLFLKYDATMIEINPMVEDSDGAVLCMDAKINFDSNSAYRQKKIFDLQDWTQEDER
DKDAAKANLNYIGLDGNIGCLVNGAGLAMATMDIIKLHGGTPANFLDVGGGATVHQVTEA
FKLITSDKKVLAILVNIFGGIMRCDVIAQGIVMAVKDLEIKIPVVVRLQGTRVDDAKALI
ADSGLKILACDDLDEAARMVVKLSEIVTLAKQAHVDVKFQLPI

Sequence length

463

Interactions

View interactions

	KEGG		Reactome
	Citrate cycle (TCA cycle) Propanoate metabolism Metabolic pathways Carbon metabolism		Citric acid cycle (TCA cycle)

331

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial prostate cancer	Likely pathogenic	rs2541668805	RCV005931330
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	Likely pathogenic; Pathogenic	rs1425790333, rs2137688148, rs2137694642, rs1950124035, rs985896883, rs1309421397, rs2137688022, rs754813556, rs140963290, rs2137715433, rs113994161, rs121908537, rs121908538, rs374479008, rs2541673501 View all (5 more)	RCV003771723 RCV001795830 RCV001806397 RCV001955335 RCV001892662 RCV001975069 RCV002226802 RCV002249184 RCV003058413 RCV000006341 RCV000020560 RCV000006343 RCV000006344 RCV003055458 RCV003153087 RCV003518134 RCV000761522 RCV000989104 RCV005860173 RCV001261542
SUCLA2-related disorder	Likely pathogenic; Pathogenic	rs1011464708	RCV003396328

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Likely benign	rs186142828	RCV005919139
Gastric cancer	Likely benign	rs186142828	RCV005919140
Global developmental delay	Conflicting classifications of pathogenicity	rs142289138	RCV000449628
Lung cancer	Benign	rs78408381	RCV005902277
Mitochondrial DNA depletion syndrome	Uncertain significance	rs886050259, rs563064046, rs886050260, rs886050261	RCV000380332 RCV000399206 RCV000291155 RCV000346030
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs142020748, rs78408381	RCV005892153 RCV005902276
Sarcoma	Benign	rs78408381	RCV005902275
Uterine corpus endometrial carcinoma	Benign	rs78408381	RCV005902278

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	33231368
Acidosis Lactic	Associate	27913098
Acrocephalosyndactylia	Associate	27913098
Agammaglobulinemia	Associate	27913098
Anemia	Associate	27913098
Brain Diseases	Associate	27913098
Breast Neoplasms	Associate	37253003
Carcinoma Hepatocellular	Associate	36308411
Carcinoma Krebs 2	Associate	33231368
Carcinoma Renal Cell	Associate	33564363
Chorea	Associate	27651038
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	27913098
Coenzyme Q10 Deficiency	Associate	27651038
Deafness	Associate	27651038, 33231368
Dystonia	Associate	27651038, 27913098
Esophageal Motility Disorders	Associate	27913098
Hearing Loss	Associate	27913098
Leigh Disease	Associate	27651038, 27913098
Methylmalonic acidemia	Associate	27484306
Methylmalonic Aciduria and Homocystinuria CblF Type	Associate	30041674
Mitochondrial Diseases	Associate	21295139, 23010432
Mitochondrial Encephalomyopathies	Associate	15877282, 27913098, 33231368
Movement Disorders	Associate	27651038
Multiple Myeloma	Associate	21753152
Muscle Hypotonia	Associate	27651038
Myelodysplastic Syndromes	Associate	29052564
Myoclonic dystonia	Associate	33231368
Neoplasm Metastasis	Associate	37253003
Neoplasms	Associate	21753152, 37253003
Neoplasms	Inhibit	27100877
Neoplastic Syndromes Hereditary	Associate	35235001
Polyneuropathies	Associate	35235001
Succinyl CoA:3 oxoacid CoA transferase deficiency	Inhibit	27913098
Visceral myopathy familial external ophthalmoplegia	Associate	15877282, 19667227, 21295139
Vomiting	Associate	27913098
X linked sideroblastic anemia	Associate	22740690

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