SUCLA2 succinate-CoA ligase ADP-forming subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: SUCLA2provided by HGNC
Official Full Name: succinate-CoA ligase ADP-forming subunit betaprovided by HGNC
Primary source: HGNC:HGNC:11448
See related: Ensembl:ENSG00000136143 MIM:603921; AllianceGenome:HGNC:11448
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: A-SCS; A-BETA; MTDPS5; LINC00444; SCS-betaA
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 dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in heart (RPKM 24.1), fat (RPKM 23.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (47942656..48001273, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (47163055..47221676, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (48516791..48575409, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder - deafness syndrome.
Title: SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder - deafness syndrome.
SUCLA2-coupled regulation of GLS succinylation and activity counteracts oxidative stress in tumor cells.
Title: SUCLA2-coupled regulation of GLS succinylation and activity counteracts oxidative stress in tumor cells.
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease.
Title: SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease.
Pharmacologically targetable vulnerability in prostate cancer carrying RB1-SUCLA2 deletion.
Title: Pharmacologically targetable vulnerability in prostate cancer carrying RB1-SUCLA2 deletion.
SUCLA2 mutation is associated with Down syndrome and mitochondrial depletion syndrome.
Title: Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
The patient's cells lack the SUCLG1 protein, with significantly reduced levels of SUCLA2 and SUCLG2 protein
Title: Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
Sucla2 is related to the developmental stages of mouse spermatogenesis. Knockdown of Sucla2 decreases the viability of mouse spermatocytes by inducing apoptosis via decreased mitochondrial function of the cells.
Title: Knockdown of Sucla2 decreases the viability of mouse spermatocytes by inducing apoptosis through injury of the mitochondrial function of cells.
Long survival, to age 20 years or older, was reported in 12% of SUCLA2 and in 10% of SUCLG1 patients.
Title: Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
XDH and SUCLA2 genes associated with thiopurine-induced leukopenia can act in a complex interactive manner in patients with Crohn's disease.
Title: Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease.
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
Title: 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.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MedGen: C2749864 OMIM: 612073 GeneReviews: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of aging. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide diet-gene interaction analyses for risk of colorectal cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 NL4-3 replication is restricted by SUCLA2 as enhanced replication was discovered when SUCLA2 is deleted through CRISPR/Cas9 genome editing in primary CD4+ T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31155 (e-PCR)
- UniSTS:167699

RH70784 (e-PCR)
- UniSTS:62037

A004F20 (e-PCR)
- UniSTS:58832

SHGC-64010 (e-PCR)
- UniSTS:35025

D13S1358 (e-PCR)
- UniSTS:69627

HSC2RA062 (e-PCR)
- UniSTS:62974

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables succinate-CoA ligase (ADP-forming) activity	IBA Inferred from Biological aspect of Ancestor more info
enables succinate-CoA ligase (ADP-forming) activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in succinate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in succinyl-CoA catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in succinyl-CoA metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in succinyl-CoA pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in tricarboxylic acid cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in tricarboxylic acid cycle	IEA Inferred from Electronic Annotation more info
involved_in tricarboxylic acid cycle	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed
part_of succinate-CoA ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of succinate-CoA ligase complex (ADP-forming)	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial

Names: ATP-specific succinyl-CoA synthetase subunit beta; ATP-specific succinyl-CoA synthetase, beta subunit; long intergenic non-protein coding RNA 444; mitochondrial succinyl-CoA ligase [ADP-forming] subunit beta; renal carcinoma antigen NY-REN-39; succinate-CoA ligase ADP-forming beta subunit; succinate-CoA ligase beta subunit; succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial; succinyl-CoA synthetase beta-A chain

NP_003841.1

EC 6.2.1.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.