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ACSBG2 Gene

protein-coding   GIFtS: 54
GCID: GC19P006135

Acyl-CoA Synthetase Bubblegum Family Member 2

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(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
Acyl-CoA Synthetase Bubblegum Family Member 21 2 3     BRGL2
BGR2 3 5     PRTDNY32
Bubblegum-Related Protein2 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ACSBG2 Gene:
ACSBG2 (acyl-CoA synthetase bubblegum family member 2) is a protein-coding gene. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for ACSBG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ACBG2_HUMAN, Q5FVE4 (See protein sequence)
Recommended Name: Long-chain-fatty-acid--CoA ligase ACSBG2  
Size: 666 amino acids; 74354 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ACSBG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001276106.1  NP_001276107.1  NP_001276108.1  NP_001276109.1  NP_112186.3  

    ENSEMBL proteins: 
     ENSP00000468394   ENSP00000464938   ENSP00000466336   ENSP00000465870   ENSP00000467755  
     ENSP00000465589   ENSP00000468684   ENSP00000468652   ENSP00000465088   ENSP00000465581  
     ENSP00000466434   ENSP00000252669  

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    Cloud-Clone Corp. Proteins for ACSBG2

     
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    antibodies-online proteins for ACSBG2 (4 products) 

     
    antibodies-online peptides for ACSBG2

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

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

    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


    Find genes that share domains with ACSBG2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with ACSBG2           About GenesLikeMe


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

    Find genes that share phenotypes with ACSBG2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ACSBG2

    miRNA
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    Block miRNA regulation of human, mouse, rat ACSBG2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ACSBG2:
    hsa-miR-374a* hsa-miR-3202
    SwitchGear 3'UTR luciferase reporter plasmidACSBG2 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for ACSBG2
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    (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
    ACBG2_HUMAN, Q5FVE4: Cytoplasm. Membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with ACSBG2           About GenesLikeMe


    (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 ACSBG2 About    
    See pathways by source

    SuperPathContained pathways About
    1PPAR signaling pathway
    fatty acid beta-oxidation VI (peroxisome)0.00
    PPAR signaling pathway
    2stearate biosynthesis I (animals)
    stearate biosynthesis I (animals)0.35
    fatty acid beta-oxidation I0.30
    gamma-linolenate biosynthesis II (animals)0.35
    fatty acid activation0.00
    3Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid degradation0.42
    4Metabolism
    Metabolic pathways0.38
    5Adipocytokine signaling pathway
    Adipocytokine signaling pathway


    Find genes that share SuperPaths with ACSBG2           About GenesLikeMe

    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



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

        Pathway & Disease-focused RT2 Profiler PCR Array including ACSBG2: 
              Fatty Acid Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACSBG2

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

    Selected Interacting proteins for ACSBG2 (ENSP000002526694) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACADLENSP000002337104STRING: ENSP00000233710
    ACADMENSP000004096124STRING: ENSP00000409612
    ACADVLENSP000003253954STRING: ENSP00000325395
    ACOX1ENSP000002932174STRING: ENSP00000293217
    ACOX3ENSP000003487754STRING: ENSP00000348775
    About this table

    Gene Ontology (GO): Selected biological process terms (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 ----

    Find genes that share ontologies with ACSBG2           About GenesLikeMe



    (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 ACSBG2 (ACBG2)

    Selected 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)----



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACSBG2 gene (5 alternative transcripts): 
    NM_001289177.1  NM_001289178.1  NM_001289179.1  NM_001289180.1  NM_030924.4  

    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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    hsa-miR-374a* hsa-miR-3202
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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 

    Selected AceView cDNA sequences (see all 53):

    AK057412 AL136854 AK093433 AX748123 AA382331 CD359587 AJ577571 BX279719 
    AA382332 BG720171 AA444162 BI561348 BI461749 BG717649 AY358766 BI458864 
    BI831510 AL040167 BI520116 BG772264 NM_030924 AI150566 AI805938 BM564194 

    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™, 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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    ACSBG2 expression in normal human tissues (normalized intensities)
    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
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
    ACSBG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACSBG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.465720

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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ACSBG2 gene from Selected species (see all 16)    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 72.99(n)1
    69.65(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 62.59(n)
    59.87(a)
      335159  NM_001126379.1  NP_001119851.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta bgm1 bubblegum 51.5(n)
    43.46(a)
      44117  NM_079959.3  NP_524698.1 
    worm
    (Caenorhabditis elegans)
    Secernentea acs-186
    Protein ACS-18 (acs-18) mRNA, complete cds
    20(a)
    many ↔ many
    IV(10310791-10313670) WBGene00011173
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FAA26
    Medium chain fatty acyl-CoA synthetase, activates ...
    19(a)
    1 → many
    V(184541-186775) YER015W


    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)
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    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

    Find genes that share paralogs with ACSBG2           About GenesLikeMe


    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), 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)
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    Selected SNPs for ACSBG2 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACSBG2
    DNA2.0 Custom Variant and Variant Library Synthesis for ACSBG2

    (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.)
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    OMIM gene information: 614363    OMIM disorders: --

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

    Find genes that share disorders with ACSBG2           About GenesLikeMe

    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)
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    PubMed articles for ACSBG2 gene, integrated from 10 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. (Genome Res. 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. (Arch. Biochem. Biophys. 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. (Asian J. Androl. 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. (J. Biol. Chem. 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 2003)
    7. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 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. (BMC Med. Genet. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 81616 HGNC: 24174 AceView: BGR Ensembl:ENSG00000130377 euGenes: HUgn81616
    ECgene: ACSBG2 Kegg: 81616 H-InvDB: ACSBG2

    (According to HUGE)
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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)
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    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.)
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    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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