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

ACSBG2 Gene

protein-coding   GIFtS: 54
GCID: GC19P006135

Acyl-CoA Synthetase Bubblegum Family Member 2

  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
Acyl-CoA Synthetase Bubblegum Family Member 21 2 3     BRGL2
Bubblegum-Related Protein2 3     PRTDNY32
BGR2 3     Long-Chain-Fatty-Acid--CoA Ligase ACSBG22
PRTD-NY32 3     EC 6.2.1.33
Bubblegum Related Protein1     

External Ids:    HGNC: 241741   Entrez Gene: 816162   Ensembl: ENSG000001303777   OMIM: 6143635   UniProtKB: Q5FVE43   

Export aliases for ACSBG2 gene to outside databases

Previous GC identifers: GC19P006087 GC19P005894


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

GeneCards Summary for ACSBG2 Gene: 
ACSBG2 (acyl-CoA synthetase bubblegum family member 2) is a protein-coding gene. Diseases associated with ACSBG2 include adrenoleukodystrophy, and tuberculosis, and among its related super-pathways are fatty acid activation and eicosapentaenoate biosynthesis II (metazoa). GO annotations related to this gene include long-chain fatty acid-CoA ligase activity and acyl-CoA hydrolase activity. An important paralog of this gene is ACSBG1.

UniProtKB/Swiss-Prot: ACBG2_HUMAN, Q5FVE4
Function: Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via
beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids;
however, the relevance of such activity is unclear in vivo. Has increased ability to activate oleic and linoleic
acid. May play a role in spermatogenesis

Gene Wiki entry for ACSBG2 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_000019.9  NT_011255.14  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACSBG2 gene promoter:
         HSF2   HSF1short   HSF1 (long)   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACSBG2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACSBG2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACSBG2


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

ACSBG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACSBG2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P006135:  view genomic region     (about GC identifiers)

Start:
6,135,258 bp from pter      End:
6,193,112 bp from pter
Size:
57,855 bases      Orientation:
plus 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: ACBG2_HUMAN, Q5FVE4 (See protein sequence)
Recommended Name: Long-chain-fatty-acid--CoA ligase ACSBG2  
Size: 666 amino acids; 74354 Da
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein
Developmental stage: Weakly or not expressed in fetal testis. Highly expressed in adult testis and moderately in
elderly testis
Sequence caution: Sequence=CAE12157.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KSF2 Q6UWJ3 Q7Z5A0 Q8WW03 Q96M36 Q9BYZ3 Q9H0C4
Alternative splicing: 4 isoforms:  Q5FVE4-1   Q5FVE4-2   Q5FVE4-3   Q5FVE4-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACSBG2: NX_Q5FVE4

Explore proteomics data for ACSBG2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5FVE4

  • ACSBG2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACSBG2 Protein Expression
    REFSEQ proteins: NP_112186.3  
    ENSEMBL proteins: 
     ENSP00000468394   ENSP00000464938   ENSP00000466336   ENSP00000465870   ENSP00000467755  
     ENSP00000465589   ENSP00000468684   ENSP00000468652   ENSP00000465088   ENSP00000465581  
     ENSP00000466434   ENSP00000252669  

    Human Recombinant Protein Products for ACSBG2: 
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    Novus Biologicals ACSBG2 Protein
    Novus Biologicals ACSBG2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACSBG2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA16762313
    GO:0005829cytosol IEA--
    GO:0016020membrane IEA--

    ACSBG2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ACS: Acyl-CoA synthetase family

    2 InterPro protein domains:
     IPR000873 AMP-dep_Synth/Lig
     IPR020845 AMP-binding_CS

    Graphical View of Domain Structure for InterPro Entry Q5FVE4

    ProtoNet protein and cluster: Q5FVE4

    1 Blocks protein domain: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: ACBG2_HUMAN, Q5FVE4
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily


    ACSBG2 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: ACBG2_HUMAN, Q5FVE4
    Function: Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via
    beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids;
    however, the relevance of such activity is unclear in vivo. Has increased ability to activate oleic and linoleic
    acid. May play a role in spermatogenesis
    Catalytic activity: ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA

         Enzyme Number (IUBMB): EC 6.2.1.31

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004467long-chain fatty acid-CoA ligase activity IDA16371355
    GO:0005524ATP binding IEA--
    GO:0047617acyl-CoA hydrolase activity IDA16762313
         
    ACSBG2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Acsbg2):
     homeostasis/metabolism  normal  other 

    ACSBG2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACSBG2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACSBG2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACSBG2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACSBG2 

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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ACSBG2:
    hsa-miR-374a* hsa-miR-3202
    SwitchGear 3'UTR luciferase reporter plasmidACSBG2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSBG2


    (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 ACSBG2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1fatty acid activation
    fatty acid activation0.55
    fatty acid beta-oxidation VI (peroxisome)0.46
    stearate biosynthesis I (animals)0.55
    fatty acid beta-oxidation I0.40
    2eicosapentaenoate biosynthesis II (metazoa)
    gamma-linolenate biosynthesis II (animals)0.69
    3Metabolism
    Metabolic pathways0.40
    4Fatty Acid Beta Oxidation
    Fatty acid degradation0.32
    5PPAR signaling pathway
    PPAR signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for ACSBG2
        stearate biosynthesis I (animals)
    gamma-linolenate biosynthesis II (animals)
    fatty acid beta-oxidation VI (peroxisome)
    fatty acid beta-oxidation I
    fatty acid activation



    4         Kegg Pathways  (Kegg details for ACSBG2):
        Fatty acid degradation
    Metabolic pathways
    PPAR signaling pathway
    Adipocytokine signaling pathway


    ACSBG2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACSBG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/24 Interacting proteins for ACSBG2 (ENSP000002526694) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACOX1ENSP000002932174STRING: ENSP00000293217
    CPT2ENSP000003605414STRING: ENSP00000360541
    ACADLENSP000002337104STRING: ENSP00000233710
    ACADMENSP000004096124STRING: ENSP00000409612
    ACADVLENSP000003253954STRING: ENSP00000325395
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001676long-chain fatty acid metabolic process IDA16371355
    GO:0006631fatty acid metabolic process IDA16371355
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0008152metabolic process ----

    ACSBG2 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACSBG2 (ACBG2)

    10/34 HMDB Compounds for ACSBG2 (see all 34)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    20-COOH-leukotriene E420-COOH-LTE4 (see all 3)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    6,9,12,15,18,21-Tetracosahexaenoic acidall-cis-6,9,12,15,18,21-tetracosahexaenoate (see all 8)----

    Search CenterWatch for drugs/clinical trials and news about ACSBG2 / ACBG2

    (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 ACSBG2 gene: 
    NM_030924.3  

    Unigene Cluster for ACSBG2:

    Acyl-CoA synthetase bubblegum family member 2
    Hs.465720  [show with all ESTs]
    Unigene Representative Sequence: AY358766
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000591738 ENST00000588304 ENST00000588485 ENST00000588722 ENST00000591403
    ENST00000586696 ENST00000592677 ENST00000589401 ENST00000587617 ENST00000587227
    ENST00000585526 ENST00000591741 ENST00000590132 ENST00000252669(uc002mee.1 uc002mef.1 uc002meg.1 uc002meh.1 uc002mei.1 uc010xiz.1)

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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ACSBG2:
    hsa-miR-374a* hsa-miR-3202
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    Inhib. RNA
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    Additional mRNA sequence: 

    AJ577571.1 AK057412.1 AK093433.1 AK225862.1 AK302604.1 AL136854.1 AY009107.1 AY358766.1 
    BC022027.1 BC090046.1 

    9 DOTS entries:

    DT.100760776  DT.99996175  DT.92418858  DT.121422762  DT.95164510  DT.121422681  DT.100760773  DT.100669017 
    DT.92026655 

    24/53 AceView cDNA sequences (see all 53):

    AX748123 AJ577571 AK057412 AL136854 AA382332 BG720171 CD359587 AK093433 
    AA382331 BX279719 AA444162 AY009107 BC022027 BI561348 AI150566 AY358766 
    NM_030924 AI806019 BI825990 BI463101 BI458864 BG717649 AI215467 BU171227 

    GeneLoc Exon Structure


    (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

    ACSBG2 expression in normal human tissues (normalized intensities)      ACSBG2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCCAGGGA
    ACSBG2 Expression
    About this image


    ACSBG2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
             sperm   

    See ACSBG2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACSBG2

    SOURCE GeneReport for Unigene cluster: Hs.465720

    UniProtKB/Swiss-Prot: ACBG2_HUMAN, Q5FVE4
    Tissue specificity: Testis-specific

        SABiosciences Expression via Pathway-Focused PCR Array including ACSBG2: 
              Fatty Acid Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSBG2

    (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 animals and fungi.

    Orthologs for ACSBG2 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acsbg21 , 5 acyl-CoA synthetase bubblegum family member 21, 5 72.8(n)1
    69.3(a)1
      17 (29.54 cM)5
    3288451  NM_001039114.11  NP_001034203.11 
     568431035 
    chicken
    (Gallus gallus)
    Aves ACSBG21 acyl-CoA synthetase bubblegum family member 2 62.03(n)
    58.58(a)
      420090  NM_001012846.1  NP_001012864.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC536732 hypothetical protein MGC53673 73.73(n)    BC043850.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acsbg21 acyl-CoA synthetase bubblegum family member 2 62.7(n)
    60.03(a)
      335159  NM_001126379.1  NP_001119851.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta bgm1 bubblegum 51.5(n)
    43.46(a)
      44117  NM_079959.2  NP_524698.1 
    worm
    (Caenorhabditis elegans)
    Secernentea acs-186
    acs-156
    (see all 4)
    Protein ACS-15
    (see all 4)
    19(a)
    18(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    IV(10310791-10313670)
    II(933037-936926)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FAA26
    Medium chain fatty acyl-CoA synthetase, activates ...
    17(a)
    1 → many
    V(184541-186775)


    ENSEMBL Gene Tree for ACSBG2 (if available)
    TreeFam Gene Tree for ACSBG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACSBG2 gene
    ACSBG12  ACSL62  ACSL12  ACSL52  
    1 SIMAP similar gene for ACSBG2 using alignment to 7 protein entries:     ACBG2_HUMAN (see all proteins):
    ACSBG1

    ACSBG2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ACSBG2
    PGOHUM00000234121


    (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

    10/1525 SNPs in ACSBG2 are shown (see all 1525)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1486652211,2
    --6133768(+) CCCTCC/TTGTTG 1 -- us2k10--------
    rs1898946121,2
    --6133771(+) TCCTGC/TTGGGG 1 -- us2k10--------
    rs1118998751,2
    F--6133776(+) TTGGGG/AACCTC 1 -- us2k12Minor allele frequency- A:0.04CSA WA 120
    rs1421910511,2
    --6133962(+) GGACAC/TGCCAT 1 -- us2k10--------
    rs1507941741,2
    --6134024(+) GAAGAA/CGGGCT 1 -- us2k10--------
    rs735448451,2
    C,F--6134045(+) TGGTGG/AACACT 1 -- us2k12Minor allele frequency- A:0.04WA 120
    rs1113221041,2
    F--6134274(+) GGTGCC/ATGCCT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs560378041,2
    C,F--6134375(+) TCCAGC/TCTGGG 1 -- us2k12Minor allele frequency- T:0.50WA CSA 4
    rs1465516021,2
    --6134379(+) GTCTGA/GGCAAC 1 -- us2k10--------
    rs1412780221,2
    C--6134399(+) ACTCCG/TTCTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACSBG2 (6135258 - 6193112 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ACSBG2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv3187CNV Deletion18987735
    esv2675978CNV Deletion23128226
    esv2154244CNV Deletion18987734
    esv2718061CNV Deletion23290073
    esv2543418CNV Deletion19546169
    esv2458578CNV Deletion19546169
    esv2718060CNV Deletion23290073
    nsv910910CNV Loss21882294
    nsv910911CNV Loss21882294

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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: 614363    OMIM disorders: --

    2 diseases for ACSBG2:    About MalaCards
    adrenoleukodystrophy    tuberculosis

    1 disease from the University of Copenhagen DISEASES database for ACSBG2:
    Adrenoleukodystrophy

    ACSBG2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ACSBG2

    Export disorders for ACSBG2 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 ACSBG2 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with ACSBG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
    2. A novel mammalian bubblegum-related acyl-CoA synthetase restricted to testes and possibly involved in spermatogenesis. (PubMed id 16762313)1, 2, 9 Fraisl P....Berger J. (2006)
    3. Identification and characterization of the BGR-like gene with a potential role in human testicular development/spermatogenesis. (PubMed id 15685348)1, 2, 9 Zheng Y.... Sha J.-H. (2005)
    4. The second member of the human and murine 'bubblegum' family is a testis-and brainstem-specific acyl-CoA synthetase. (PubMed id 16371355)1, 2 Pei Z.... Watkins P.A. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    7. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (2007)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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: 81616 HGNC: 24174 AceView: BGR Ensembl:ENSG00000130377 euGenes: HUgn81616
    ECgene: ACSBG2 Kegg: 81616 H-InvDB: ACSBG2

    (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 ACSBG2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACSBG2 gene:
    Search GeneIP for patents involving ACSBG2

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



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