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

SUCLA2 Gene

protein-coding   GIFtS: 67
GCID: GC13M048510

succinate-CoA ligase, ADP-forming, beta subunit
 Explore 17 diseases affiliated with
SUCLA2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SUCLA2    

Aliases
for SUCLA2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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-BetaA1     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


Summaries
for SUCLA2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_024524.14  
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 plasmid: SUCLA2 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

Proteins
for SUCLA2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003841.1  
    ENSEMBL proteins: 
     ENSP00000367923   ENSP00000367912   ENSP00000392771   ENSP00000415091   ENSP00000438182  
     ENSP00000441056   ENSP00000443412  
    Reactome Protein details: Q9P2R7
    Human Recombinant Protein Products: 
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    Uscn 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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    Uscn ELISAs and CLIAs for SUCLA2

    Protein Domains /
    Families
    for SUCLA2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SUCLA2 for domains           About GeneDecksing

    5/8 InterPro domains/families (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 families:
    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


    Function
    for SUCLA2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SUCLA2
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SUCLA2:
    hsa-miR-30c-2* hsa-miR-144 hsa-miR-30c-1*
    SwitchGear 3'UTR luciferase reporter plasmid: SUCLA2 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SUCLA2

    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004775succinate-CoA ligase (ADP-forming) activity TAS10727444
    GO:0005515protein binding IPI10727444
    GO:0005524ATP binding IEA--
    GO:0016874ligase activity ----
    GO:0046872metal ion binding IEA--


    SUCLA2 for ontologies           About GeneDecksing



    Pathways & Interactions
    for SUCLA2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TCA Cycle
    		TCA Cycle1.00
    		Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    		Citrate cycle (TCA cycle)0.65
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3TCA cycle II (eukaryotic)
    		TCA cycle II (eukaryotic)1.00
    		Citric acid cycle (TCA cycle)0.67
    4Valproic Acid Pathway, Pharmacodynamics
    		Valproic Acid Pathway, Pharmacodynamics1.00
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		The citric acid (TCA) cycle and respiratory electron transport0.72

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for SUCLA2 
        TCA cycle II (eukaryotic)
    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

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

    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)

    5/301 Interacting proteins for SUCLA2 (Q9P2R72, 3 ENSP000003679234) via UniProtKB, MINT, STRING, and/or I2D (see all 301)

    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 biological process terms (GO ID links to tree view):    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:0044281small molecule metabolic process TAS--


    SUCLA2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SUCLA2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for SUCLA2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493152 ENST00000484941 ENST00000481279 ENST00000378654(uc010tgb.2 uc001vbs.3 uc010tgc.2 uc010tgd.2)
    ENST00000378645 ENST00000467222 ENST00000434484 ENST00000433022 ENST00000497202
    ENST00000470760 ENST00000534875 ENST00000543413 ENST00000544100

    miRNA
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    hsa-miR-30c-2* hsa-miR-144 hsa-miR-30c-1*
    SwitchGear 3'UTR luciferase reporter plasmid: SUCLA2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    BG567704 AI424015 BP360975 BM722575 AL598961 BM702681 CF552312 AL080096 
    BU178753 AA306600 AL599012 AI017705 CR625494 AA013400 AB035863 BQ716382 
    BM128989 BU950137 AF058953 BU729608 BC027587 CA943893 AL557710 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

    Expression
    for SUCLA2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTCTGTCAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SUCLA2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeInterscapular Brown Adipose DepotAdipose
    AdiposeThoracic Perivascular AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    In Situ
    Assay Products:     
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    Orthologs
    for SUCLA2 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for SUCLA2 gene from 10/41 species (see all 41)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves Q5F3B9_CHICK6
    		 succinate-CoA ligase, ADP-forming, beta subunit
    		 85(a)
    		 1 ↔ 1
    		 1(172935148-172955443)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 3)    		 --
    		 79(a)
    70(a)
    (see all 3)    		 1 ↔ 1
    possible ortholog
    (see all 3)    		 1(136997603-137021864)
    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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria sucC6
    		 succinyl-CoA synthetase, beta subunit
    		 47(a)
    		 1 → many
    		 Chromosome(762237-763403)


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

    Paralogs
    for SUCLA2 gene

    (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


    Genomic Variants
    for SUCLA2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1210 NCBI SNPs in SUCLA2 are shown (see all 1210)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 13 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs170709951,2
    		C,F,--29309043(+) GTCATG/TGCAAG 1 -- ds50014Minor allele frequency- T:0.02NA WA 260
    rs563851171,2
    		F,--29309051(+) AAGTAT/CATGAT 1 -- ds50012Minor allele frequency- C:0.09WA NA 238
    rs103971,2
    		C,F,A,H,--29309209(-) AAGGAA/C/GTTACA 2 -- ut31 ese320MN NA NS EA WA 2316
    rs746156921,2
    		C,F,--29309289(+) AGTTAA/CTCAGT 1 -- ut311Minor allele frequency- C:0.03WA 118
    rs132431,2
    		C,F,A,--29309542(-) GATAAA/GTACGA 1 -- ut317Minor allele frequency- G:0.13MN NA 630
    rs1159591431,2
    		C,F,--29309738(+) CCTTTT/CAAATG 1 -- ut311Minor allele frequency- C:0.02WA 118
    rs769113941,2
    		F,--29310846(+) TATTGT/CTATGA 1 -- int12Minor allele frequency- C:0.07NA EA 240
    rs790108411,2
    		F,--29312847(+) CACACA/GTACAT 1 -- int12Minor allele frequency- G:0.03WA NA 238
    rs762480821,2
    		F,--29313082(+) TTTTTT/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 4
    rs95679571,2
    		C,F,A,H,--29313094(+) GCAATC/ACCTTT 1 -- int17Minor allele frequency- A:0.04NS EA NA WA 630

    HapMap Linkage Disequilibrium report for SUCLA2 (48510622 - 48612125 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SUCLA2
         1 CNV: 4803
    Human Gene Mutation Database (HGMD): SUCLA2

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    Disorders / Diseases
    for SUCLA2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SUCLA2 for disorders           About GeneDecksing

    OMIM gene information: 603921   
    OMIM disorders: 612073  
    UniProtKB/Swiss-Prot: SUCB1_HUMAN, Q9P2R7
  • Defects in SUCLA2 are the cause of mitochondrial DNA depletion syndrome type 5 (MTDPS5) [MIM:612073]. A
    • disorder characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement
    disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria

    17 diseases for SUCLA2:    About MalaCards
    mitochondrial dna depletion syndrome    mitochondrial dna depletion syndrome, encephalomyopathic form    mitochondrial dna depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)    chronic progressive external ophthalmoplegia
    renal carcinoma    mitochondrial encephalomyopathy    lactic acidosis    sideroblastic anemia
    carcinoma    ophthalmoplegia    encephalomyopathy    renal cell carcinoma
    hypotonia    anemia    tuberculosis    malaria
    mycobacterium tuberculosis

    4 diseases from the University of Copenhagen DISEASES database for SUCLA2:
    Methylmalonic acidemia     Mitochondrial myopathy     Sideroblastic anemia     Lactic acidosis
    GeneTests: SUCLA2
    SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria

    Human Genome Epidemiology (HuGE) Navigator: SUCLA2 (1 document)

    Export disorders for SUCLA2 gene to outside databases

    Publications
    for SUCLA2 gene

    (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 34):
    (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. 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)
    4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (1999)
    9. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. (PubMed id 17287286)2, 9 Ostergaard E....Schwartz M. (2007)
    10. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. (PubMed id 17301081)2, 9 Carrozzo R....Wevers R.A. (2007)

    External Searches for SUCLA2 gene

    (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)

    Genome Databases showing SUCLA2 gene

    (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

    Other Databases showing SUCLA2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SUCLA2 gene

    (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

    Intellectual Property
    for SUCLA2 gene

    (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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