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SUCLA2 Gene

protein-coding   GIFtS: 66
GCID: GC13M048510

Succinate-CoA Ligase, ADP-Forming, Beta Subunit

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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Succinate-CoA Ligase, ADP-Forming, Beta Subunit1 2     MTDPS52 5
Renal Carcinoma Antigen NY-REN-392 3     A-BETA2
Succinyl-CoA Synthetase Beta-A Chain2 3     ATP-Specific Succinyl-CoA Synthetase, Beta Subunit2
SCS-betaA2 3     Mitochondrial Succinyl-CoA Ligase [ADP-Forming] Subunit Beta2
ATP-Specific Succinyl-CoA Synthetase Subunit Beta2 3     Succinyl-CoA Ligase [ADP-Forming] Subunit Beta, Mitochondrial2
EC 6.2.1.53 8     EC 6.2.18

External Ids:    HGNC: 114481   Entrez Gene: 88032   Ensembl: ENSG000001361437   OMIM: 6039215   UniProtKB: Q9P2R73   

Export aliases for SUCLA2 gene to outside databases

Previous GC identifers: GC13M046516 GC13M042504 GC13M047215 GC13M046314 GC13M047414 GC13M029309


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, beta subunit) is a protein-coding gene. Diseases associated with SUCLA2 include sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria, and mitochondrial dna depletion syndrome 5. GO annotations related to this gene include succinate-CoA ligase (ADP-forming) activity. An important paralog of this gene is SUCLG2.

UniProtKB/Swiss-Prot: SUCB1_HUMAN, Q9P2R7
Function: Catalyzes the ATP-dependent ligation of succinate and CoA to form succinyl-CoA (By similarity)

Gene Wiki entry for SUCLA2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the SUCLA2 gene promoter:
         AREB6   C/EBPbeta   Sp1   C/EBPalpha   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSUCLA2 promoter sequence
   Search Chromatin IP Primers for SUCLA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SUCLA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12.2-q13.3   Ensembl cytogenetic band:  13q14.2   HGNC cytogenetic band: 13q12.2-q13.3

SUCLA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SUCLA2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M048510:  view genomic region     (about GC identifiers)

Start:
48,510,622 bp from pter      End:
48,612,125 bp from pter
Size:
101,504 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SUCB1_HUMAN, Q9P2R7 (See protein sequence)
Recommended Name: Succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial precursor  
Size: 463 amino acids; 50317 Da
Subunit: Heterodimer of an alpha and a beta subunit. Interacts with ALAS2
Secondary accessions: B2RDE7 O95194 Q5T9Q4 Q5T9Q6 Q9NV21 Q9NVP7
Alternative splicing: 2 isoforms:  Q9P2R7-1   Q9P2R7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SUCLA2: NX_Q9P2R7

Explore proteomics data for SUCLA2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys78, Lys417
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SUCLA2 (Q9P2R7) (see all 13)
     LDGNIGC  DAKINFD  VNIFGGI  IPVVVRL 


    See SUCLA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003841.1  
    ENSEMBL proteins: 
     ENSP00000367923   ENSP00000392771   ENSP00000415091   ENSP00000438182   ENSP00000441056  
     ENSP00000443412  
    Reactome Protein details: Q9P2R7

    SUCLA2 Human Recombinant Protein Products:

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    Novus Biologicals SUCLA2 Protein
    Novus Biologicals SUCLA2 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SUCLA2

    SUCLA2 Antibody Products:

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    SUCLA2 Assay Products:

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    Cloud-Clone Corp. ELISAs for SUCLA2
    Cloud-Clone Corp. CLIAs for SUCLA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR005809 Succ_CoA_synthase_bsu
     IPR017866 Succ-CoA_synthase_bsu_CS
     IPR013650 ATP-grasp_succ-CoA_synth-type
     IPR013815 ATP_grasp_subdomain_1
     IPR005811 CoA_ligase

    Graphical View of Domain Structure for InterPro Entry Q9P2R7

    ProtoNet protein and cluster: Q9P2R7

    2 Blocks protein domains:
    IPB005809 Succinyl-CoA synthetase
    IPB013650 ATP-grasp fold


    UniProtKB/Swiss-Prot: SUCB1_HUMAN, Q9P2R7
    Similarity: Belongs to the succinate/malate CoA ligase beta subunit family
    Similarity: Contains 1 ATP-grasp domain


    SUCLA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SUCB1_HUMAN, Q9P2R7
    Function: Catalyzes the ATP-dependent ligation of succinate and CoA to form succinyl-CoA (By similarity)
    Catalytic activity: ATP + succinate + CoA = ADP + phosphate + succinyl-CoA

         Enzyme Numbers (IUBMB): EC 6.2.1.51 2 EC 6.2.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004775succinate-CoA ligase (ADP-forming) activity TAS10727444
    GO:0005515protein binding IPI10727444
    GO:0005524ATP binding IEA--
    GO:0046872metal ion binding IEA--
         
    SUCLA2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SUCLA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SUCLA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SUCLA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SUCLA2

    miRNA
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    miRTarBase miRNAs that target SUCLA2:
    hsa-mir-30a-5p (MIRT028494), hsa-mir-93-3p (MIRT038843), hsa-mir-16-5p (MIRT031701), hsa-mir-1 (MIRT023695), hsa-mir-122-5p (MIRT023320)

    Block miRNA regulation of human, mouse, rat SUCLA2 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate SUCLA2:
    hsa-miR-30c-2* hsa-miR-144 hsa-miR-30c-1*
    SwitchGear 3'UTR luciferase reporter plasmidSUCLA2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SUCLA2
    Predesigned siRNA for gene silencing in human, mouse, rat SUCLA2

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for SUCLA2 (see all 7)
    OriGene ORF clones in mouse, rat for SUCLA2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SUCLA2 (NM_003850)
    Sino Biological Human cDNA Clone for SUCLA2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SUCLA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUCLA2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SUCLA2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUCLA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SUCB1_HUMAN, Q9P2R7: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    SUCLA2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SUCLA2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.55
    conversion of glucose to acetyl CoA and entry into the TCA cycle0.43
    Citrate cycle (TCA cycle)0.55
    TCA cycle0.00
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    4Carbon metabolism
    Carbon metabolism0.38
    5Valine, leucine and isoleucine degradation
    Propanoate metabolism0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for SUCLA2
        TCA cycle
    conversion of glucose to acetyl CoA and entry into the TCA cycle


    1 Reactome Pathway for SUCLA2
        Citric acid cycle (TCA cycle)

    1 PharmGKB Pathway for SUCLA2
        Valproic Acid Pathway, Pharmacodynamics

    4 Kegg Pathways  (Kegg details for SUCLA2):
        Citrate cycle (TCA cycle)
    Propanoate metabolism
    Metabolic pathways
    Carbon metabolism

    UniProtKB/Swiss-Prot: SUCB1_HUMAN, Q9P2R7
    Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; succinate from succinyl-CoA (ligase route): step 1/1


    SUCLA2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SUCLA2: 

              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SUCLA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SUCLA2 (Q9P2R72, 3 ENSP000003679234) via UniProtKB, MINT, STRING, and/or I2D (see all 367)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YME1L1Q96TA22, 3MINT-8079030 I2D: score=1 
    DLDP096222, 3, ENSP000002054024MINT-8079030 I2D: score=1 STRING: ENSP00000205402
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    ATP5A1P257052, 3, ENSP000002820504MINT-8079030 I2D: score=1 STRING: ENSP00000282050
    PSMD14O004873, ENSP000003865414I2D: score=3 STRING: ENSP00000386541
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0006104succinyl-CoA metabolic process TAS9765291
    GO:0006105succinate metabolic process IEA--
    GO:0006781succinyl-CoA pathway NAS10727444
    GO:0008152metabolic process ----

    SUCLA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SUCLA2 (SUCB1)

    Selected HMDB Compounds for SUCLA2 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IDP5'-IDP (see all 10)86-04-4--
    Inosine triphosphateinosine 5'-(tetrahydrogen triphosphate) (see all 13)132-06-9--
    Itaconic acid2-Hydroxy-3-Naphthoyl-2-Naphthylamine (see all 12)97-65-4--
    Itaconyl-CoAS-(1-hydrogen methylenesuccinate) Coenzyme A (see all 8)6008-93-1--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--

    1 DrugBank Compound for SUCLA2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--17139284 17016423 10592235

    1 Novoseek inferred chemical compound relationship for SUCLA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methylmalonic acid 79.4 3 17301081 (2), 17287286 (1)



    SUCLA2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SUCLA2 gene: 
    NM_003850.2  

    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493152 ENST00000484941 ENST00000481279 ENST00000378654(uc010tgb.2 uc001vbs.3 uc010tgc.2 uc010tgd.2)
    ENST00000467222 ENST00000434484 ENST00000433022 ENST00000497202 ENST00000470760
    ENST00000534875 ENST00000543413 ENST00000544100
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate SUCLA2:
    hsa-miR-30c-2* hsa-miR-144 hsa-miR-30c-1*
    SwitchGear 3'UTR luciferase reporter plasmidSUCLA2 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SUCLA2
      QuantiTect SYBR Green Assays in human, mouse, rat SUCLA2
      QuantiFast Probe-based Assays in human, mouse, rat SUCLA2

    Selected AceView cDNA sequences (see all 261):

    NM_003850 BI762348 BM702681 AL711058 AA889021 BU178753 BM129244 BC027587 
    BP360975 AL598961 AL599012 AB035863 CA943893 BG743711 CF552312 BM722575 
    AI831737 BM128989 BU950137 Z41196 BU684890 AA013400 CR596143 BU739897 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SUCLA2    About this scheme

    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:                                                                                                                        


    ECgene alternative splicing isoforms for SUCLA2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SUCLA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTCTGTCAT
    SUCLA2 Expression
    About this image


    SUCLA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Bone Marrow
    SUCLA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SUCLA2 Protein Expression

    UniProtKB/Swiss-Prot: SUCB1_HUMAN, Q9P2R7
    Tissue specificity: Widely expressed. Not expressed in liver and lung

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SUCLA2: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SUCLA2
    OriGene qSTAR qPCR primer pairs in human, mouse for SUCLA2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SUCLA2
    QuantiTect SYBR Green Assays in human, mouse, rat SUCLA2
    QuantiFast Probe-based Assays in human, mouse, rat SUCLA2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUCLA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SUCLA2 gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sucla21 , 5 succinate-Coenzyme A ligase, ADP-forming, beta subunit1, 5 88.05(n)1
    91.14(a)1
      14 (39.06 cM)5
    209161  NM_011506.31  NP_035636.11 
     735253195 
    chicken
    (Gallus gallus)
    Aves SUCLA21 succinate-CoA ligase, ADP-forming, beta subunit 81.63(n)
    85.68(a)
      418857  NM_001006271.2  NP_001006271.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    74(a)
    71(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    1(136997507-137023480)
    GL343907.1(39115-40443)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.90912 Xenopus laevis transcribed sequence with moderate similarity more 77.2(n)    CF548389.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj90d072 Danio rerio cDNA clone MGC73397 IMAGE4787787, complete more 76.69(n)    BC059701.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG119633
    skap1
    succinate-CoA ligase (ADP-forming)3
    skpA associated protein1
    59(a)
    (best of 2)3
    58.33(n)1
    59.47(a)1
      85B73
    410671  NM_001104243.31  NP_001097713.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F47B10.13
    suca-11
    succinate-CoA ligase3
    suca-11
    63(a)
    (best of 2)3
    60.69(n)1
    63.2(a)1
      X(10933256-10935335)3
    1812801  NM_077420.31  NP_509821.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LSC2(YGR244C)4
    LSC21
    Beta subunit of succinyl-CoA ligase, which is a mitochondrial more4
    LSC21
    54.85(n)1
    48.61(a)1
      7(979319-978036)4
    8531591, 4  NP_011760.31  NP_011760.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G204201 AT2G20420 57.35(n)
    52.94(a)
      816561  NM_127601.3  NP_179632.1 
    rice
    (Oryza sativa)
    Liliopsida Os.97582 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.93(n)    AK103525.1 


    ENSEMBL Gene Tree for SUCLA2 (if available)
    TreeFam Gene Tree for SUCLA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for SUCLA2 gene
    SUCLG22  
    4 SIMAP similar genes for SUCLA2 using alignment to 6 protein entries:     SUCB1_HUMAN (see all proteins):
    DKFZp564P2062    DKFZp686D0880    SUCLG2    DKFZp586M2023

    SUCLA2 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for SUCLA2 (see all 9)
    PGOHUM00000244769 PGOHUM00000239992 PGOHUM00000240103 PGOHUM00000243575 PGOHUM00000245401


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for SUCLA2 (see all 1421)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0462164
    Mitochondrial DNA depletion syndrome 5 (MTDPS5)4--see VAR_0462162 R C mis40--------
    VAR_0462154
    Mitochondrial DNA depletion syndrome 5 (MTDPS5)4--see VAR_0462152 G R mis40--------
    VAR_0701234
    Mitochondrial DNA depletion syndrome 5 (MTDPS5)4--see VAR_0701232 D N mis40--------
    rs1219085381,2
    Cpathogenic129471676(-) CCTATC/TGCCAA 2 R C mis10--------
    rs744844791,2
    C--29369126(-) CTGAGT/CGATTA 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs1151572461,2
    F--29459399(+) TAGTTC/AATACA 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs354650791,2
    C--29459502(+) CTACC-/AAAAAA 1 -- ds50010--------
    rs113141431,2
    C--29459511(+) AAAAA-/A/AA  
            
    CAAAA
    1 -- ds50010--------
    rs1868840151,2
    --29459538(+) AACACA/CTATGT 1 -- ds50010--------
    rs1927374941,2
    --29459663(+) TTGGGA/TGACAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SUCLA2 (48510622 - 48612125 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SUCLA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1029CNV Insertion18451855
    nsv832601CNV Gain17160897

    Human Gene Mutation Database (HGMD): SUCLA2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SUCLA2
    DNA2.0 Custom Variant and Variant Library Synthesis for SUCLA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 603921   
    OMIM disorders: 612073  
    UniProtKB/Swiss-Prot: SUCB1_HUMAN, Q9P2R7
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for SUCLA2 (see all 25):    
    About MalaCards
    sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria    mitochondrial dna depletion syndrome 5    mitochondrial dna depletion syndrome    mitochondrial dna depletion syndrome, encephalomyopathic form
    x-linked sideroblastic anemia    sideroblastic anemia    chronic progressive external ophthalmoplegia    methylmalonic acidemia
    ophthalmoplegia    mitochondrial encephalomyopathy    encephalomyopathy    mitochondrial disorders
    lactic acidosis    hypotonia    myopathy    renal cell carcinoma
    tonsillitis    tuberculosis    cerebritis    multiple myeloma

    2 diseases from the University of Copenhagen DISEASES database for SUCLA2:
    Methylmalonic acidemia     Mitochondrial myopathy

    SUCLA2 for disorders           About GeneDecksing

    GeneTests: SUCLA2
    GeneReviews: SUCLA2
    Genetic Association Database (GAD): SUCLA2
    Human Genome Epidemiology (HuGE) Navigator: SUCLA2 (1 document)

    Export disorders for SUCLA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for SUCLA2 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with SUCLA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes. (PubMed id 9765291)1, 2, 3 Johnson J.D.... Lambeth D.O. (J. Biol. Chem. 1998)
    2. Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. (PubMed id 10727444)1, 2, 9 Furuyama K. and Shigeru S. (J. Clin. Invest. 2000)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. (PubMed id 15877282)1, 2 Elpeleg O.... Saada A. (Am. J. Hum. Genet. 2005)
    5. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    6. The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis. (PubMed id 14643893)1, 2 Cox T.C.... May B.K. (Int. J. Biochem. Cell Biol. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (Int. J. Cancer 1999)
    10. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. (PubMed id 17287286)2, 9 Ostergaard E....Schwartz M. (Brain 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 8803 HGNC: 11448 AceView: SUCLA2 Ensembl:ENSG00000136143 euGenes: HUgn8803
    ECgene: SUCLA2 Kegg: 8803 H-InvDB: SUCLA2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SUCLA2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SUCLA2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SUCLA2 gene:
    Search GeneIP for patents involving SUCLA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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