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

ACSS2 Gene

protein-coding   GIFtS: 60
GCID: GC20P033459

acyl-CoA synthetase short-chain family member 2

(Previous name: acetyl-Coenzyme A synthetase 2 (ADP forming) )
(Previous symbol: ACAS2)
 Explore 11 diseases affiliated with
ACSS2 via our new
 Human Malady Compendium 
Biological research products
for ACSS2
    

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

Aliases
Acyl-CoA Synthetase Short-Chain Family Member 21 2 3     ACECS2
ACS1 2 3 5     Acetate Thiokinase2
ACAS21 2 3     Acetate-CoA Ligase2
ACSA1 2     Acetyl-Coenzyme A Synthetase, Cytoplasmic2
Acetyl-Coenzyme A Synthetase 2 (ADP Forming)1 2     Cytoplasmic Acetyl-Coenzyme A Synthetase2
DJ1161H23.11     Acetate--CoA Ligase3
AceCS1 3     Acetyl-CoA Synthetase3
Acyl-Activating Enzyme2 3     EC 6.2.18
EC 6.2.1.13 8     

External Ids:    HGNC: 158141   Entrez Gene: 559022   Ensembl: ENSG000001310697   OMIM: 6058325   UniProtKB: Q9NR193   

Export aliases for ACSS2 gene to outside databases

Previous GC identifers: GC20P032927 GC20P030241


(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 ACSS2:
This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy
generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP.
Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that
activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Jul 2009)

UniProtKB/Swiss-Prot: ACSA_HUMAN, Q9NR19
Function: Activates acetate so that it can be used for lipid synthesis or for energy generation

Gene Wiki entry for ACSS2


(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_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACSS2 gene promoter:
         c-Fos   AP-1   Lmo2   C/EBPalpha   ATF6   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACSS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACSS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACSS2


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

Entrez Gene cytogenetic band: 20q11.22   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.22

ACSS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACSS2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P033459:  view genomic region     (about GC identifiers)

Start:
33,459,949 bp from pter      End:
33,515,769 bp from pter
Size:
55,821 bases      Orientation:
plus strand

(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: ACSA_HUMAN, Q9NR19 (See protein sequence)
Recommended Name: Acetyl-coenzyme A synthetase, cytoplasmic  
Size: 701 amino acids; 78580 Da
Subunit: Monomer
Subcellular location: Cytoplasm
Secondary accessions: Q5QPH2 Q96EL0 Q9NQP7 Q9UJ15

Explore the universe of human proteins at neXtProt for ACSS2: NX_Q9NR19

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NR19

  • 4/18 DME Specific Peptides for ACSS2 (Q9NR19) (see all 18)
     AEAAVVG  YGPLANG  VAEAAVV  SGKIMRR 

    ACSS2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001070020.2  NP_001229322.1  NP_061147.1  

    ENSEMBL proteins: 
     ENSP00000417783   ENSP00000418152   ENSP00000420105   ENSP00000353804   ENSP00000419167  
     ENSP00000418608   ENSP00000418362   ENSP00000417059   ENSP00000418812   ENSP00000419925  
     ENSP00000420351   ENSP00000253382   ENSP00000337190  
    Reactome Protein details: Q9NR19
    Human Recombinant Protein Products: 
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    Uscn Proteins for ACSS2

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0043231intracellular membrane-bounded organelle IDA--


    ACSS2 for ontologies           About GeneDecksing



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

    ACSS2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011904 Ac_CoA_lig
     IPR000873 AMP-dep_Synth/Lig
     IPR024597 Acyl-CoA_synth_DUF3448
     IPR020845 AMP-binding_CS
     IPR025110 DUF4009

    Graphical View of Domain Structure for InterPro Entry Q9NR19

    ProtoNet protein and cluster: Q9NR19

    1 Blocks protein family: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: ACSA_HUMAN, Q9NR19
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    (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: ACSA_HUMAN, Q9NR19
    Function: Activates acetate so that it can be used for lipid synthesis or for energy generation
    Catalytic activity: ATP + acetate + CoA = AMP + diphosphate + acetyl-CoA

    Enzyme Numbers (IUBMB): EC 6.2.1.11 2 EC 6.2.12

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate ACSS2:
    hsa-miR-3685 hsa-miR-485-5p hsa-miR-328 hsa-miR-631 hsa-miR-155* hsa-miR-452* hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidACSS2 3' UTR sequence
    Inhib. RNA
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    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:0003987acetate-CoA ligase activity IDA10843999
    GO:0005524ATP binding IEA--
    GO:0016208AMP binding IC10843999


    ACSS2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ACSS2:
     Increased number of cells in m 


    (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 - 5/13 super-pathways (see all 13About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1ethanol degradation II
    ethanol degradation II1.00
    oxidative ethanol degradation III0.57
    ethanol degradation IV0.57
    acetate conversion to acetyl-CoA0.40
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3Glucose / Energy Metabolism
    Glucose / Energy Metabolism1.00
    4Ethanol oxidation
    Ethanol oxidation1.00
    5Biological oxidations
    Biological oxidations1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ACSS2
        Glucose / Energy Metabolism

    5/8 BioSystems Pathways for ACSS2 (see all 8
        oxidative ethanol degradation III
    ethanol degradation IV
    acetate conversion to acetyl-CoA
    Fatty Acid Beta Oxidation
    ethanol degradation II

    4        Reactome Pathways for ACSS2
        Ethanol oxidation
    Metabolism
    Biological oxidations
    Phase 1 - Functionalization of compounds


    4         Kegg Pathways  (Kegg details for ACSS2):
        Glycolysis / Gluconeogenesis
    Pyruvate metabolism
    Propanoate metabolism
    Metabolic pathways


    ACSS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACSS2

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

    5/39 Interacting proteins for ACSS2 (Q9NR191, 3 ENSP000003538044) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF1Q929001, 3, ENSP000002628034EBI-372879,EBI-373471 I2D: score=2 STRING: ENSP00000262803
    VAMP7P518093I2D: score=2 
    ACACAENSP000003447894STRING: ENSP00000344789
    ACACBENSP000003670794STRING: ENSP00000367079
    ACADMENSP000004096124STRING: ENSP00000409612
    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:0006069ethanol oxidation TAS--
    GO:0006085acetyl-CoA biosynthetic process ----
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008610lipid biosynthetic process IMP10843999
    GO:0019427acetyl-CoA biosynthetic process from acetate IEA--


    ACSS2 for ontologies           About GeneDecksing



    (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

    ACSS2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ACSS2

    10/11 HMDB Compounds for ACSS2 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetic acidAcetate (see all 12)64-19-7--
    Acetyl adenylate5'-O-[acetoxy(hydroxy)phosphoryl]adenosine (see all 5)13015-87-7--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Propinol adenylatePropionyladenylate ----
    Propionic acidAdofeed (see all 23)79-09-4--
    Propionyl-CoAPropionyl-CoA (see all 8)317-66-8--

    2 DrugBank Compounds for ACSS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine monophosphate5'-Adenosine monophosphate (see all 15)61-19-8targetproduct of17303131 17497934 17350930 16981708
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17139284 17016423 12493915 14704009

    10/23 Novoseek chemical compound relationships for ACSS2 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetyl-coa 92.2 96 10859180 (5), 12722651 (4), 20232292 (4), 10681568 (4) (see all 49)
    acyl-coa 79.1 11 20105319 (1), 1684180 (1), 1455165 (1), 18375835 (1) (see all 10)
    pyruvate 59.6 4 11171136 (1), 10859180 (1), 14665385 (1)
    propionate 54 3 12618394 (1), 12700259 (1)
    fatty acid 53 5 1684180 (1), 10859180 (1), 18375835 (1), 10843999 (1) (see all 5)
    atp 51.5 7 12493915 (1), 12627952 (1), 11007993 (1), 1390767 (1) (see all 7)
    pyrophosphate 50.9 2 8854380 (1), 8954523 (1)
    nad+ 47.9 1 15023335 (1)
    lysine 42.5 3 12493915 (1), 15019790 (1)
    acetaldehyde 40.5 3 12722651 (2), 11171136 (1)

    Search CenterWatch for drugs/clinical trials and news about ACSS2 / ACSA 

    (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 ACSS2 gene (4 alternative transcripts): 
    NM_001076552.2  NM_001242393.1  NM_018677.3  NM_139274.1  

    Unigene Cluster for ACSS2:

    Acyl-CoA synthetase short-chain family member 2
    Hs.517034  [show with all ESTs]
    Unigene Representative Sequence: NM_001076552
    18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000490046 ENST00000481971 ENST00000497927 ENST00000488172 ENST00000481284(uc002xbc.2)
    ENST00000475459 ENST00000461051 ENST00000360596(uc010zum.1 uc010gey.2 uc002xbd.2 uc002xbe.2)
    ENST00000484354 ENST00000480274 ENST00000477932 ENST00000473239 ENST00000493805
    ENST00000473172 ENST00000480978 ENST00000467019 ENST00000253382 ENST00000476922


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    Additional cDNA sequence: 

    AF263614.1 AK000162.1 AK000188.1 AK022608.1 AK025990.1 AK092281.1 AK098026.1 AK293634.1 
    AL359946.1 BC010141.2 BC012172.1 BC073846.1 BC098422.1 CR749716.1 

    24/28 DOTS entries (see all 28):

    DT.117903  DT.92435403  DT.95144125  DT.100027348  DT.100027349  DT.100823046  DT.92435401  DT.120806401 
    DT.120806345  DT.100674175  DT.100823050  DT.120806369  DT.91727585  DT.100669576  DT.100823049  DT.120806362 
    DT.120806376  DT.120806398  DT.120806443  DT.87078860  DT.92435405  DT.92435406  DT.92435409  DT.95148030 

    24/270 AceView cDNA sequences (see all 270):

    BM824237 BQ882289 BG698738 BE048767 BQ029603 AA887195 BI768876 NM_018677 
    BM675504 BE876193 BM127598 BM929821 AI480383 CA423861 AI674262 AA557550 
    CB306420 BI909907 BM984830 BM985095 BE646099 BC073846 BU069804 AW630319 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ACSS2 (see all 12)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a ·
    SP1:                                      -     -                             -                                               -                             -   
    SP2:        -     -     -     -           -     -                             -                       -                       -                             -   
    SP3:                                      -     -                             -                       -                       -                             -   
    SP4:                                      -     -     -     -     -     -     -     -     -     -     -                       -                             -   
    SP5:                                      -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23a · 23b · 23c
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                    -                           


    ECgene alternative splicing isoforms for ACSS2

    (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

    ACSS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACTTGCCCT

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

    About this image
    See ACSS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACSS2

    SOURCE GeneReport for Unigene cluster: Hs.517034
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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 last universal common ancestor (LUCA).

    Orthologs for ACSS2 gene from 9/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ACSS21 acyl-CoA synthetase short-chain family member 2 74.78(n)
    79.79(a)
      419158  XM_417342.3  XP_417342.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACSS26
    --
    77(a)
    1 ↔ 1
    4(135305085-135362501)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW641033.12   -- 76.66(n)    AW641033.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.146482 Transcribed sequence with weak similarity to protein more 78.75(n)    BI897382.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta AcCoAS1 Acetyl Coenzyme A synthase 62.91(n)
    64.18(a)
      40348  NM_168894.2  NP_730611.1 
    worm
    (Caenorhabditis elegans)
    Secernentea acs-191 Protein ACS-19 55.47(n)
    53.99(a)
      175500  NM_001026035.2  NP_001021206.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACS1 acetyl-CoA synthetase 58.29(n)
    59.84(a)
      833655  NM_001036897.2  NP_001031974.2 
    rice
    (Oryza sativa)
    Liliopsida Os.85652 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.58(n)    AK066073.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria acs6
    prpE6
    propionate--CoA ligase
    51(a)
    37(a)
    1 ↔ many
    possible ortholog
    Chromosome(4283436-4285394)
    Chromosome(351930-353816)


    ENSEMBL Gene Tree for ACSS2 (if available)
    TreeFam Gene Tree for ACSS2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACSS2 gene
    C10orf1292  ACSM52  ACSM32  ACSM2A2  ACSM12  ACSM42  ACSS32  ACSM2B2  
    ACSF22  ACSS12  
    8 SIMAP similar genes for ACSS2 using alignment to 16 protein entries:     ACSA_HUMAN (see all proteins):
    DKFZp762G026    FAM175A    FLJ00013    DKFZp666B209    ACSS3    DKFZp666G0810
    ACSS1    A-923A4.2

    ACSS2 for paralogs           About GeneDecksing



    (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

    10/922 NCBI SNPs in ACSS2 are shown (see all 922    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs456067441,2
    C,F,--30241258(+) GCCTCA/GGAATC 3 -- us2k1 ut512Minor allele frequency- G:0.04NA EU 710
    rs61207491,2
    C,F,H--30241372(+) GAGGAG/AGGTCC 3 -- us2k1 int16Minor allele frequency- A:0.02NS NA 900
    rs757698821,2
    C,--30241453(+) GGTGGG/TGGGGG 3 -- us2k1 int10--------
    rs81157331,2
    C,F,--30242252(+) GGGACC/ATGGAG 3 -- us2k1 int11Minor allele frequency- A:0.06WA 118
    rs789584081,2
    C,F,--30242604(+) GACGGC/TGTCAC 3 -- us2k1 int11Minor allele frequency- T:0.07NA 120
    rs22950951,2
    H--30242656(+) CCTTAT/CAGTAT 3 -- int1 us2k14Minor allele frequency- C:0.00NS EA 418
    rs1115692761,2
    C--30244126(+) ATAGAT/CANNNN 3 -- int11Minor allele frequency- C:0.00CSA 1
    rs747735201,2
    C,F,--30244473(+) CCAAGG/TAGTCA 3 -- int11Minor allele frequency- T:0.03WA 118
    rs752485751,2
    --30244962(+) AGCAGC/GCTCCT 3 -- int11Minor allele frequency- G:0.01WA 118
    rs65791981,2
    C,A,--30245372(+) gacctA/Cgtgat 3 -- int10--------

    HapMap Linkage Disequilibrium report for ACSS2 (33459949 - 33515769 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for ACSS2
         2 CNVs: 5134 102958
         3 Indels: 34373 12179 12180

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    (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

    ACSS2 for disorders           About GeneDecksing

    OMIM gene information: 605832    OMIM disorders: --

    11 diseases for ACSS2:    About MalaCards
    cholesterol    alcoholic hepatitis    hypercalcemia    alcoholism
    hepatocellular carcinoma    ischemia    hepatitis    tuberculosis
    immunodeficiency    carcinoma    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: ACSS2 (5 documents)

    Export disorders for ACSS2 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 ACSS2 gene, integrated from 9 sources (see all 91):
    (articles sorted by number of sources associating them with ACSS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins. (PubMed id 10843999)1, 2, 3, 9 Luong A.... Goldstein J.L. (2000)
    2. 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)
    3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    4. Biochemical and crystallographic analysis of substrate binding and conformational changes in acetyl-CoA synthetase. (PubMed id 17497934)7, 9 Reger A.S....Gulick A.M. (2007)
    5. The importance of acetyl coenzyme A synthetase for 11 C-acetate uptake and cell survival in hepatocellular carcinoma. (PubMed id 19617323)1, 9 Yun M....Lee J.D. (2009)
    6. Sir2-dependent activation of acetyl-CoA synthetase by deacetylation of active lysine. (PubMed id 12493915)7, 9 Starai V.J....Escalante-Semerena J.C. (2002)
    7. Reversible lysine acetylation controls the activity of the mitochondrial enzyme acetyl-CoA synthetase 2. (PubMed id 16788062)1, 9 Schwer B.... Verdin E. (2006)
    8. Enhanced biological phosphorus removal from wastewater by biomass with different phosphorus contents, Part II: Anaerobic adenosine triphosphate utilization and acetate uptake rates. (PubMed id 14704009)7, 9 Schuler A.J. and Jenkins D. (2003)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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      Query String
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      (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: 55902 HGNC: 15814 AceView: ACAS2 Ensembl:ENSG00000131069 euGenes: HUgn55902
    ECgene: ACSS2 Kegg: 55902 H-InvDB: ACSS2

    (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 ACSS2 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 ACSS2 gene:
    Search GeneIP for patents involving ACSS2

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



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