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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SUCLA2 Gene

protein-coding   GIFtS: 68
GCID: GC13M048510

Succinate-CoA Ligase, ADP-Forming, Beta Subunit

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 mitochondrial dna depletion syndrome, and mitochondrial dna depletion syndrome, encephalomyopathic form, and among its related super-pathways are Citric acid cycle (TCA cycle) and Metabolic pathways. GO annotations related to this gene include succinate-CoA ligase (ADP-forming) activity and metal ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SUCLA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P2R7

  • 4/13 DME Specific Peptides for SUCLA2 (Q9P2R7) (see all 13)
     LDGNIGC  DAKINFD  VNIFGGI  IPVVVRL 

    SUCLA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SUCLA2 Protein Expression
    REFSEQ proteins: NP_003841.1  
    ENSEMBL proteins: 
     ENSP00000367923   ENSP00000392771   ENSP00000415091   ENSP00000438182   ENSP00000441056  
     ENSP00000443412  
    Reactome Protein details: Q9P2R7
    Human Recombinant Protein Products for SUCLA2: 
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    Novus Biologicals SUCLA2 Protein
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    Cloud-Clone Corp. Proteins for SUCLA2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA10727444
    GO:0005759mitochondrial matrix TAS--

    SUCLA2 for ontologies           About GeneDecksing



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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)
    About This Section
    5/8 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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:
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       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SUCLA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SUCLA2 
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    SwitchGear 3'UTR luciferase reporter plasmidSUCLA2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUCLA2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SUCLA2 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.89
    Citrate cycle (TCA cycle)0.58
    TCA cycle0.84
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    4Pyruvate metabolism
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    5Glycolysis and gluconeogenesis (short map)
    Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46

    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

    4        Reactome Pathways for SUCLA2
        Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    Citric acid cycle (TCA cycle)
    The citric acid (TCA) cycle and respiratory electron transport

    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SUCLA2

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

    5/315 Interacting proteins for SUCLA2 (Q9P2R72, 3 ENSP000003679234) via UniProtKB, MINT, STRING, and/or I2D (see all 315)

    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): 5/7 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SUCLA2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SUCLA2 (SUCB1)

    10/11 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)

    Search CenterWatch for drugs/clinical trials and news about SUCLA2 / SUCB1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SUCLA2 gene: 
    NM_003850.2  

    Unigene Cluster for SUCLA2:

    Succinate-CoA ligase, ADP-forming, beta subunit
    Hs.743361  [show with all ESTs]
    Unigene Representative Sequence: NM_003850
    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
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    Additional mRNA sequence: 

    AB035863.1 AF058953.1 AF087890.1 AK001458.1 AK001847.1 AK093506.1 AK225452.1 AK299437.1 
    AK302311.1 AK315513.1 AK316041.1 AK316271.1 AL080096.2 BC027587.2 BX640602.1 

    19 DOTS entries:

    DT.100793016  DT.449240  DT.95136122  DT.100793015  DT.95136146  DT.92433503  DT.95136123  DT.99938851 
    DT.92433509  DT.100793014  DT.100793017  DT.100793018  DT.120788483  DT.402039  DT.75111061  DT.92433506 
    DT.97856351  DT.120788430  DT.99996793 

    24/261 AceView cDNA sequences (see all 261):

    BU950137 CR596143 BP360975 AI424015 BI762348 AL598961 BM129244 NM_003850 
    CB987951 CR625494 BU739897 AL080096 AL599012 AI831737 BU178753 AF058953 
    BM722575 BG567704 AL557710 AB035863 CF552312 BG743711 AI017705 BX439412 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SUCLA2 expression in normal human tissues (normalized intensities)      SUCLA2 embryonic expression: see
    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 
     5/38 selected tissues (see all 38) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             ganglion/cranial   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose/nasal cavity   
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             lung ; pneumocytes   

    See SUCLA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SUCLA2

    SOURCE GeneReport for Unigene cluster: Hs.743361

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including SUCLA2: 
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              Glucose Metabolism in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SUCLA2 gene from 10/28 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 SUCLA26
    succinate-CoA ligase, ADP-forming, beta subunit
    85(a)
    1 ↔ 1
    1(167942415-167962710)
    lizard
    (Anolis carolinensis)
    Reptilia SUCLA26
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    73(a)
    70(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    1(136997507-137023480)
    GL343907.1(42045-43424)
    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
    58.39(n)1
    59.52(a)1
      85B73
    410671  NM_001104243.21  NP_001097713.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F47B10.13
    suca-11
    succinate-CoA ligase3
    Protein SUCA-11
    63(a)
    (best of 2)3
    60.69(n)1
    63.2(a)1
      X(10933256-10935335)3
    1812801  NM_077420.21  NP_509821.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LSC2(YGR244C)4
    LSC21
    Beta subunit of succinyl-CoA ligase, which is a mitochondrial more4
    Lsc2p1
    53.33(n)1
    46.67(a)1
      7(979319-978036)4
    8531591, 4  NP_011760.31  NP_011760.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G204201 Succinyl-CoA ligase [GDP-forming] subunit beta 58(n)
    53.54(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
    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


    5/9 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1420 SNPs in SUCLA2 are shown (see all 1420)    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--------
    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--------
    rs170709951,2
    C,F--29459710(+) GTCATG/TGCAAG 1 -- ds50014Minor allele frequency- T:0.02NA WA 260

    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
    SABiosciences Cancer Mutation PCR Assays
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    (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
    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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 18 diseases for SUCLA2:    About MalaCards
    mitochondrial dna depletion syndrome    mitochondrial dna depletion syndrome, encephalomyopathic form    sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria    mitochondrial dna depletion syndrome 5
    x-linked sideroblastic anemia    chronic progressive external ophthalmoplegia    methylmalonic acidemia    sideroblastic anemia
    ophthalmoplegia    mitochondrial encephalomyopathy    encephalomyopathy    mitochondrial disorders
    lactic acidosis    hypotonia    myopathy    anemia
    renal cell carcinoma    tuberculosis

    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

    PubMed articles for SUCLA2 gene, integrated from 9 sources (see all 38):
    (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. (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. (2000)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2005)
    5. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (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. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    9. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (1999)
    10. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. (PubMed id 17287286)2, 9 Ostergaard E....Schwartz M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 8803 HGNC: 11448 AceView: SUCLA2 Ensembl:ENSG00000136143 euGenes: HUgn8803
    ECgene: SUCLA2 Kegg: 8803 H-InvDB: SUCLA2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SUCLA2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SUCLA2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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