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... See more...

Aliases for SUCLA2 Gene

Aliases for SUCLA2 Gene

  • Succinate-CoA Ligase ADP-Forming Subunit Beta 2 3
  • Succinate--CoA Ligase [ADP-Forming] Subunit Beta, Mitochondrial 3 4
  • ATP-Specific Succinyl-CoA Synthetase Subunit Beta 3 4
  • Succinate-CoA Ligase ADP-Forming Beta Subunit 3 5
  • Succinyl-CoA Synthetase Beta-A Chain 3 4
  • EC 6.2.1.5 4 52
  • SCS-BetaA 3 4
  • A-SCS 3 4
  • Succinyl-CoA Ligase [ADP-Forming] Subunit Beta, Mitochondrial 3
  • Mitochondrial Succinyl-CoA Ligase [ADP-Forming] Subunit Beta 3
  • ATP-Specific Succinyl-CoA Synthetase, Beta Subunit 3
  • Succinate-CoA Ligase, ADP-Forming, Beta Subunit 2
  • Succinate--CoA Ligase (ADP-Forming) 2
  • Renal Carcinoma Antigen NY-REN-39 3
  • Succinate-CoA Ligase Beta Subunit 3
  • EC 6.2.1 52
  • A-BETA 3
  • MTDPS5 3

External Ids for SUCLA2 Gene

Previous GeneCards Identifiers for SUCLA2 Gene

  • GC13M046516
  • GC13M042504
  • GC13M047215
  • GC13M046314
  • GC13M047414
  • GC13M048510
  • GC13M029309
  • GC13M047936

Summaries for SUCLA2 Gene

Entrez Gene Summary for SUCLA2 Gene

  • 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]

GeneCards Summary for SUCLA2 Gene

SUCLA2 (Succinate-CoA Ligase ADP-Forming Subunit Beta) is a Protein Coding gene. Diseases associated with SUCLA2 include Mitochondrial Dna Depletion Syndrome 5 and Mitochondrial Dna Depletion Syndrome. Among its related pathways are Citrate cycle (TCA cycle) and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include succinate-CoA ligase (ADP-forming) activity. An important paralog of this gene is SUCLG2.

UniProtKB/Swiss-Prot Summary for SUCLA2 Gene

  • 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). The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity).

Gene Wiki entry for SUCLA2 Gene

Additional gene information for SUCLA2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUCLA2 Gene

Genomics for SUCLA2 Gene

GeneHancer (GH) Regulatory Elements for SUCLA2 Gene

Promoters and enhancers for SUCLA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J048036 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 510.6 -0.8 -753 5 ZBTB40 ZNF217 EP300 CTCF SIN3A TCF12 NRF1 MYC POLR2G SP1 SUCLA2 NUDT15 L13714-106 MED4 PPP1R26P1 SUCLA2-AS1
GH13J048093 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 510.1 -56.3 -56309 3 ZBTB40 ZNF217 EP300 CTCF SIN3A TCF12 NRF1 MYC POLR2G SP1 SUCLA2 MED4 MED4-AS1 ITM2B
GH13J047999 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 520.4 +37.0 37004 4.3 ZNF217 ZSCAN5C NRF1 POLR2G NCOR1 PHF8 ZFX POLR2A KDM6A CLOCK SUCLA2 SUCLA2-AS1 piR-34822-078 lnc-MED4-2 MED4 MED4-AS1
GH13J048008 Enhancer 0.8 Ensembl ENCODE 20.5 +28.6 28554 1.8 ZNF217 KLF4 CTBP1 FOS CEBPB JUN SPI1 ELF1 JUND EP300 SUCLA2 piR-52294-044 SUCLA2-AS1
GH13J048142 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -105.9 -105933 5 NR2F2 CREB1 SPI1 TAL1 NR2F1 TCF12 RAD21 RXRA GATA2 NR2F6 lnc-MED4-1 ITM2B MED4-AS1 SUCLA2 MED4 RCBTB2 LPAR6 RB1 POLR2KP2 LOC105370198
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUCLA2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUCLA2

Top Transcription factor binding sites by QIAGEN in the SUCLA2 gene promoter:
  • AREB6
  • C/EBPalpha
  • C/EBPbeta
  • HNF-4alpha1
  • Sp1

Genomic Locations for SUCLA2 Gene

Genomic Locations for SUCLA2 Gene
chr13:47,745,736-48,037,968
(GRCh38/hg38)
Size:
292,233 bases
Orientation:
Minus strand
chr13:48,510,622-48,612,125
(GRCh37/hg19)
Size:
101,504 bases
Orientation:
Minus strand

Genomic View for SUCLA2 Gene

Genes around SUCLA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUCLA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUCLA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUCLA2 Gene

Proteins for SUCLA2 Gene

  • Protein details for SUCLA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2R7-SUCB1_HUMAN
    Recommended name:
    Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial
    Protein Accession:
    Q9P2R7
    Secondary Accessions:
    • B2RDE7
    • O95194
    • Q5T9Q4
    • Q5T9Q6
    • Q9NV21
    • Q9NVP7

    Protein attributes for SUCLA2 Gene

    Size:
    463 amino acids
    Molecular mass:
    50317 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The beta subunit determines specificity for ATP (By similarity). Interacts with ALAS2 (PubMed:14643893).

    Three dimensional structures from OCA and Proteopedia for SUCLA2 Gene

    Alternative splice isoforms for SUCLA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUCLA2 Gene

Selected DME Specific Peptides for SUCLA2 Gene

Q9P2R7:
  • ANFLDVGG
  • LDGNIGC
  • VLCMDAKINFDSNSAYRQKKIFDLQDW
  • DAKINFD
  • AGGRGKG
  • VNIFGGI
  • NGAGLAMATMD
  • VNGAGLAM
  • SGLKGGVKIVFSPEEAKAVSSQMIG
  • QVTEAFKLITSDKKV
  • SGLKGGV
  • IPVVVRL
  • NIFGGIMRCD

Post-translational modifications for SUCLA2 Gene

  • Ubiquitination at Lys78 and Lys417
  • Modification sites at PhosphoSitePlus

Domains & Families for SUCLA2 Gene

Gene Families for SUCLA2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for SUCLA2 Gene

Blocks:
  • Succinyl-CoA synthetase, beta subunit
  • ATP-grasp fold, succinyl-CoA synthetase-type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SUCLA2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79170, highly similar to Succinyl-CoA ligase (ADP-forming) beta-chain, mitochondrial (EC 6.2.1.5) (B7ZAF6_HUMAN)
  • Succinate-CoA ligase, ADP-forming, beta subunit (Q5T9Q5_HUMAN)
  • Succinyl-CoA synthetase beta-A chain (SUCB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P2R7

UniProtKB/Swiss-Prot:

SUCB1_HUMAN :
  • Belongs to the succinate/malate CoA ligase beta subunit family. ATP-specific subunit beta subfamily.
Family:
  • Belongs to the succinate/malate CoA ligase beta subunit family. ATP-specific subunit beta subfamily.
genes like me logo Genes that share domains with SUCLA2: view

Function for SUCLA2 Gene

Molecular function for SUCLA2 Gene

UniProtKB/Swiss-Prot 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). The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + succinate = ADP + phosphate + succinyl-CoA; Xref=Rhea:RHEA:17661, ChEBI:CHEBI:30031, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57287, ChEBI:CHEBI:57292, ChEBI:CHEBI:456216; EC=6.2.1.5; Evidence=. ;.

Enzyme Numbers (IUBMB) for SUCLA2 Gene

Phenotypes From GWAS Catalog for SUCLA2 Gene

Gene Ontology (GO) - Molecular Function for SUCLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004775 succinate-CoA ligase (ADP-forming) activity IEA,TAS 10727444
GO:0005515 protein binding IPI 10727444
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SUCLA2: view
genes like me logo Genes that share phenotypes with SUCLA2: view

Human Phenotype Ontology for SUCLA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SUCLA2

CRISPR Products

miRNA for SUCLA2 Gene

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for SUCLA2 Gene

Localization for SUCLA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUCLA2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUCLA2 gene
Compartment Confidence
mitochondrion 5
extracellular 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SUCLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 10727444
GO:0005759 mitochondrial matrix TAS --
GO:0042709 succinate-CoA ligase complex IBA 21873635
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with SUCLA2: view

Pathways & Interactions for SUCLA2 Gene

genes like me logo Genes that share pathways with SUCLA2: view

UniProtKB/Swiss-Prot Q9P2R7-SUCB1_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; succinate from succinyl-CoA (ligase route): step 1/1.

Gene Ontology (GO) - Biological Process for SUCLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle IEA,TAS --
GO:0006104 succinyl-CoA metabolic process TAS,IBA 21873635
GO:0006105 succinate metabolic process IEA --
GO:0006781 succinyl-CoA pathway NAS 10727444
genes like me logo Genes that share ontologies with SUCLA2: view

No data available for SIGNOR curated interactions for SUCLA2 Gene

Drugs & Compounds for SUCLA2 Gene

(10) Drugs for SUCLA2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
Acyclovir Approved Pharma Enzyme, substrate 117
Phosphoric acid Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(6) Additional Compounds for SUCLA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
IDP
  • 5'-IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
  • Inosine 5'-pyrophosphate
86-04-4
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • Inosine 5'-triphosphate
  • Inosine tripolyphosphate
  • O(5')-(Tetrahydroxytriphosphoryl)inosine
  • 2'-Inosine-5'-triphosphoric acid
132-06-9
Itaconic acid
  • 2-Methylenesuccinic acid
  • 2-Propene-1,2-dicarboxylic acid
  • Methylenebutanedioic acid
  • Methylenesuccinic acid
  • Propylenedicarboxylic acid
97-65-4
Itaconyl-CoA
  • Itaconoyl CoA
  • Itaconoyl coenzyme A
  • S-(1-Hydrogen methylenesuccinate) CoA
  • S-(1-Hydrogen methylenesuccinate) coenzyme A
  • S-3-Methylenesuccinate CoA
6008-93-1
genes like me logo Genes that share compounds with SUCLA2: view

Transcripts for SUCLA2 Gene

mRNA/cDNA for SUCLA2 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SUCLA2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - -
SP2:
SP3: -
SP4: - -
SP5:

Relevant External Links for SUCLA2 Gene

GeneLoc Exon Structure for
SUCLA2

Expression for SUCLA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SUCLA2 Gene

mRNA differential expression in normal tissues according to GTEx for SUCLA2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for SUCLA2 Gene

This gene is overexpressed in Heart (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SUCLA2 Gene



Protein tissue co-expression partners for SUCLA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUCLA2

SOURCE GeneReport for Unigene cluster for SUCLA2 Gene:

Hs.743361

mRNA Expression by UniProt/SwissProt for SUCLA2 Gene:

Q9P2R7-SUCB1_HUMAN
Tissue specificity: Widely expressed. Not expressed in liver and lung.

Evidence on tissue expression from TISSUES for SUCLA2 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Muscle(2.7)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SUCLA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • skull
  • tongue
Thorax:
  • lung
Abdomen:
  • kidney
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SUCLA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SUCLA2 Gene

Orthologs for SUCLA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SUCLA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SUCLA2 31 30
  • 99.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SUCLA2 31 30
  • 93.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SUCLA2 31 30
  • 91.94 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sucla2 17 31 30
  • 88.05 (n)
rat
(Rattus norvegicus)
Mammalia Sucla2 30
  • 87.26 (n)
oppossum
(Monodelphis domestica)
Mammalia SUCLA2 31
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SUCLA2 31
  • 21 (a)
OneToOne
chicken
(Gallus gallus)
Aves SUCLA2 31 30
  • 81.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 74 (a)
OneToMany
-- 31
  • 71 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sucla2 30
  • 76.25 (n)
MGC75984 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.9091 30
zebrafish
(Danio rerio)
Actinopterygii sucla2 31 30
  • 71.44 (n)
OneToOne
wufj90d07 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004744 30
  • 61.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11963 32
  • 59 (a)
skap 31 30
  • 58.33 (n)
OneToOne
Sucb 32
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea F47B10.1 32
  • 63 (a)
suca-1 31 30
  • 60.69 (n)
OneToOne
C50F7.4 32
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LSC2 31 30
  • 54.85 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05478g 30
  • 52.96 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL211W 30
  • 49.62 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G20420 30
  • 57.35 (n)
rice
(Oryza sativa)
Liliopsida Os02g0621700 30
  • 57.38 (n)
Os.9758 30
corn
(Zea mays)
Liliopsida Zm.6580 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7264 31
  • 70 (a)
OneToOne
Cin.4817 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1620.08 30
  • 56.26 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08471 30
  • 54.8 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4817 30
Species where no ortholog for SUCLA2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SUCLA2 Gene

ENSEMBL:
Gene Tree for SUCLA2 (if available)
TreeFam:
Gene Tree for SUCLA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUCLA2: view image

Paralogs for SUCLA2 Gene

Paralogs for SUCLA2 Gene

(4) SIMAP similar genes for SUCLA2 Gene using alignment to 6 proteins:

  • SUCB1_HUMAN
  • B7ZAF6_HUMAN
  • F5GXC8_HUMAN
  • F5H5G8_HUMAN
  • Q5T9Q5_HUMAN
  • Q5T9Q8_HUMAN
genes like me logo Genes that share paralogs with SUCLA2: view

Variants for SUCLA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUCLA2 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
663403 Uncertain Significance: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 47,988,892(-) T/C MISSENSE_VARIANT
667329 Uncertain Significance: not specified 47,954,262(-) T/C MISSENSE_VARIANT
670145 Benign: not provided 47,997,248(-) C/T INTRON_VARIANT
670146 Benign: not provided 47,973,045(-) C/T INTRON_VARIANT
670147 Benign: not provided 47,973,035(-) A/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SUCLA2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SUCLA2 Gene

Variant ID Type Subtype PubMed ID
nsv1029 CNV insertion 18451855
nsv832601 CNV gain 17160897

Variation tolerance for SUCLA2 Gene

Residual Variation Intolerance Score: 68.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.37; 63.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUCLA2 Gene

Human Gene Mutation Database (HGMD)
SUCLA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUCLA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUCLA2 Gene

Disorders for SUCLA2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for SUCLA2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SUCB1_HUMAN
  • Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073]: A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients. {ECO:0000269 PubMed:15877282, ECO:0000269 PubMed:17287286, ECO:0000269 PubMed:17301081, ECO:0000269 PubMed:23759946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SUCLA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SUCLA2: view

No data available for Genatlas for SUCLA2 Gene

Publications for SUCLA2 Gene

  1. Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. (PMID: 10727444) Furuyama K … Sassa S (The Journal of clinical investigation 2000) 3 4 23 54
  2. Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes. (PMID: 9765291) Johnson JD … Lambeth DO (The Journal of biological chemistry 1998) 2 3 4 54
  3. The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. (PMID: 23759946) Jaberi E … Elahi E (Journal of human genetics 2013) 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. (PMID: 17287286) Ostergaard E … Schwartz M (Brain : a journal of neurology 2007) 4 23 54

Products for SUCLA2 Gene

Sources for SUCLA2 Gene