Free for academic non-profit institutions. Other users need a Commercial license

ACSS2 Gene(Protein Coding)

Acyl-CoA Synthetase Short Chain Family Member 2

GCID:
GC20P034873
GIFtS:
51
Genes Participants
UDN Logo

Aliases for ACSS2 Gene

Aliases for ACSS2 Gene

  • Acyl-CoA Synthetase Short Chain Family Member 2 2 3 5
  • Acetyl-Coenzyme A Synthetase 2 (ADP Forming) 2 3
  • Acyl-Activating Enzyme 3 4
  • EC 6.2.1.1 4 56
  • ACECS 3 4
  • ACAS2 3 4
  • ACS 3 4
  • Acyl-CoA Synthetase Short-Chain Family Member 2 4
  • Acetyl-Coenzyme A Synthetase, Cytoplasmic 3
  • Cytoplasmic Acetyl-Coenzyme A Synthetase 3
  • Acetyl-CoA Synthetase 4
  • Acetate--CoA Ligase 4
  • Acetate Thiokinase 3
  • Acetate-CoA Ligase 3
  • DJ1161H23.1 3
  • EC 6.2.1 56
  • ACSA 3

External Ids for ACSS2 Gene

Previous HGNC Symbols for ACSS2 Gene

  • ACAS2

Previous GeneCards Identifiers for ACSS2 Gene

  • GC20P032927
  • GC20P033459
  • GC20P030241

Summaries for ACSS2 Gene

Entrez Gene Summary for ACSS2 Gene

  • 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]

GeneCards Summary for ACSS2 Gene

ACSS2 (Acyl-CoA Synthetase Short Chain Family Member 2) is a Protein Coding gene. Diseases associated with ACSS2 include Cystoisosporiasis. Among its related pathways are ethanol degradation II and Metabolism. Gene Ontology (GO) annotations related to this gene include AMP binding and acetate-CoA ligase activity. An important paralog of this gene is ACSS3.

UniProtKB/Swiss-Prot for ACSS2 Gene

  • Activates acetate so that it can be used for lipid synthesis or for energy generation.

Gene Wiki entry for ACSS2 Gene

Additional gene information for ACSS2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSS2 Gene

Genomics for ACSS2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ACSS2 Gene

Promoters and enhancers for ACSS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH20I034874 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +3.7 3680 3.6 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ACSS2 MAP1LC3A PIGU PROCR NCOA6 GGT7 GC20P034874 GC20P034899
GH20I034872 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.7 671 1.4 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 SLC30A9 ZNF207 ACSS2 GGT7 GC20P034874 PIGU NCOA6
GH20I034476 Enhancer 0.7 FANTOM5 4.6 -395.5 -395509 0.3 SMARCA5 CTCF MXI1 SAP130 FOXA3 MXD4 ZNF48 RAD21 SKI ZGPAT ENSG00000277558 FDX1P1 DYNLRB1 ACSS2 GC20M034509 ITCH
GH20I034903 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 1.7 +32.1 32071 0.8 TEAD4 TAL1 BATF ATF7 ETV6 IKZF2 SMARCE1 RXRA CBFA2T3 JUNB PIGU MIR499A EDEM2 MMP24OS ACSS2 TP53INP2 GC20P034899 MYH7B
GH20I033997 Enhancer 0.2 dbSUPER 4.2 -874.1 -874147 1.6 ACSS2 RALY RALY-AS1 ENSG00000228386
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACSS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACSS2 gene promoter:

Genomic Locations for ACSS2 Gene

Genomic Locations for ACSS2 Gene
chr20:34,872,146-34,927,966
(GRCh38/hg38)
Size:
55,821 bases
Orientation:
Plus strand
chr20:33,459,949-33,515,769
(GRCh37/hg19)

Genomic View for ACSS2 Gene

Genes around ACSS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSS2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ACSS2 Gene

Proteins for ACSS2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ACSS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR19-ACSA_HUMAN
    Recommended name:
    Acetyl-coenzyme A synthetase, cytoplasmic
    Protein Accession:
    Q9NR19
    Secondary Accessions:
    • A6NE90
    • Q5QPH2
    • Q5QPH3
    • Q8N238
    • Q96EL0
    • Q9NQP7
    • Q9UJ15

    Protein attributes for ACSS2 Gene

    Size:
    701 amino acids
    Molecular mass:
    78580 Da
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for ACSS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACSS2 Gene

Protein Expression for ACSS2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ACSS2 Gene

Q9NR19:
  • LFILYTSGSTG
  • YGPLANG
  • MLACARIGA
  • FEGIPTYP
  • VAEAAVV
  • IYMPMIPE
  • DGYYWITGR
  • VGEPINP
  • YTAPTAIR
  • LYTSGSTGKPKGV
  • LYTSGSTG
  • WYHRVVG
  • WQTETGG
  • AEAAVVG
  • SGKIMRR
  • WCTADIGW
  • AMLACAR
  • TFKYVFD

Post-translational modifications for ACSS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACSS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACSS2 Gene

Gene Families for ACSS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ACSS2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACSS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NR19

UniProtKB/Swiss-Prot:

ACSA_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with ACSS2: view

Function for ACSS2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ACSS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + acetate + CoA = AMP + diphosphate + acetyl-CoA.
UniProtKB/Swiss-Prot Function:
Activates acetate so that it can be used for lipid synthesis or for energy generation.

Enzyme Numbers (IUBMB) for ACSS2 Gene

Gene Ontology (GO) - Molecular Function for ACSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003987 acetate-CoA ligase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016208 AMP binding IEA,IC 10843999
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with ACSS2: view
genes like me logo Genes that share phenotypes with ACSS2: view

Animal Model Products

miRNA for ACSS2 Gene

miRTarBase miRNAs that target ACSS2

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACSS2 Gene

Localization for ACSS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSS2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACSS2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
peroxisome 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IC 10843999
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with ACSS2: view

Pathways & Interactions for ACSS2 Gene

genes like me logo Genes that share pathways with ACSS2: view

Gene Ontology (GO) - Biological Process for ACSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006069 ethanol oxidation TAS --
GO:0006085 acetyl-CoA biosynthetic process IEA --
GO:0007005 mitochondrion organization TAS --
GO:0008152 metabolic process IEA --
GO:0008610 lipid biosynthetic process IMP 10843999
genes like me logo Genes that share ontologies with ACSS2: view

No data available for SIGNOR curated interactions for ACSS2 Gene

Drugs & Compounds for ACSS2 Gene

Products:

  1. Drug

(22) Drugs for ACSS2 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra Target, product of 0
Sodium acetate Approved Pharma Enzyme, substrate 0
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2141
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2040

(15) Additional Compounds for ACSS2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
 72-89-9
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
Acetyl adenylate
  • 5'-O-[Acetoxy(hydroxy)phosphoryl]adenosine
  • Acetyl adenylate
  • Acetyl AMP
  • Acetyladenylate
  • [[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphoryl] acetate
 13015-87-7
Propinol adenylate
  • Propionyladenylate
genes like me logo Genes that share compounds with ACSS2: view

Transcripts for ACSS2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ACSS2 Gene

(14) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(270) Selected AceView cDNA sequences:
(24) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACSS2 Gene

Acyl-CoA synthetase short-chain family member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACSS2 Gene

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: - - - - - - - - - - - - - - - - - - - -
SP6: -
SP7: -
SP8:
SP9:
SP10: - - - - - -
SP11:
SP12:

ExUns: 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23a · 23b · 23c
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ACSS2 Gene

GeneLoc Exon Structure for
ACSS2
ECgene alternative splicing isoforms for
ACSS2

Expression for ACSS2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACSS2 Gene

mRNA expression in normal human tissues for ACSS2 Gene
mRNA expression by BioGPS for ACSS2 GenemRNA expression by GTEx for ACSS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACSS2 Gene

This gene is overexpressed in Urine (7.6), Stomach (7.5), Milk (7.4), and Nasopharynx (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACSS2 Gene



Protein tissue co-expression partners for ACSS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACSS2 Gene:

ACSS2

SOURCE GeneReport for Unigene cluster for ACSS2 Gene:

Hs.517034

Evidence on tissue expression from TISSUES for ACSS2 Gene

  • Liver(4.5)
  • Nervous system(4.4)
  • Blood(4.3)
  • Skin(4.3)
  • Intestine(3.1)
  • Muscle(2.8)
  • Kidney(2.7)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with ACSS2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSS2 Gene

Orthologs for ACSS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACSS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ACSS2 33 34
  • 99.77 (n)
dog
(Canis familiaris)
 Mammalia ACSS2 33 34
  • 91.46 (n)
cow
(Bos Taurus)
 Mammalia ACSS2 33 34
  • 91.16 (n)
mouse
(Mus musculus)
 Mammalia Acss2 33 16 34
  • 90.58 (n)
rat
(Rattus norvegicus)
 Mammalia Acss2 33
  • 90.58 (n)
oppossum
(Monodelphis domestica)
 Mammalia ACSS2 34
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ACSS2 33 34
  • 74.55 (n)
lizard
(Anolis carolinensis)
 Reptilia ACSS2 34
  • 78 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia acss2 33
  • 71.15 (n)
zebrafish
(Danio rerio)
 Actinopterygii acss2 34
  • 74 (a)
 OneToOne
Dr.14648 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006569 33
  • 63.73 (n)
fruit fly
(Drosophila melanogaster)
 Insecta AcCoAS 33 34
  • 62.96 (n)
worm
(Caenorhabditis elegans)
 Secernentea acs-19 33 34
  • 55.67 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ACS1 34
  • 42 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons ACS 33
  • 58.24 (n)
soybean
(Glycine max)
 eudicotyledons Gma.1473 33
rice
(Oryza sativa)
 Liliopsida Os02g0525900 33
  • 59.66 (n)
Os.8565 33
barley
(Hordeum vulgare)
 Liliopsida Hv.487 33
wheat
(Triticum aestivum)
 Liliopsida Ta.16490 33
corn
(Zea mays)
 Liliopsida Zm.3669 33
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.2696 34
  • 65 (a)
 OneToOne
Species where no ortholog for ACSS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ACSS2 Gene

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

Paralogs for ACSS2 Gene

Variants for ACSS2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ACSS2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs886056638 uncertain-significance, Glutathione synthetase deficiency 34,928,437(+) T/A downstream_transcript_variant
rs886056639 uncertain-significance, Glutathione synthetase deficiency 34,928,438(+) C/A downstream_transcript_variant
rs1000069485 -- 34,909,720(+) T/C intron_variant
rs1000092710 -- 34,902,377(+) G/A intron_variant
rs1000147213 -- 34,895,960(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ACSS2 Gene

Variant ID Type Subtype PubMed ID
dgv95n6 CNV deletion 16902084
esv2520076 CNV deletion 19546169
esv2671024 CNV deletion 23128226
esv2722357 CNV deletion 23290073
esv2743305 CNV deletion 23290073
esv3353956 CNV insertion 20981092
esv3557024 CNV deletion 23714750
nsv1055447 CNV loss 25217958
nsv1071692 CNV deletion 25765185
nsv1152938 CNV deletion 26484159
nsv478716 CNV novel sequence insertion 20440878
nsv833962 CNV loss 17160897
nsv956232 CNV deletion 24416366

Variation tolerance for ACSS2 Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.95; 67.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACSS2 Gene

Human Gene Mutation Database (HGMD)
ACSS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSS2 Gene

Disorders for ACSS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACSS2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
cystoisosporiasis
  • infection by isospora belli and isospora hominis
- elite association - COSMIC cancer census association via MalaCards
Search ACSS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACSS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACSS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACSS2 Gene

Publications for ACSS2 Gene

  1. Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins. (PMID: 10843999) Luong A … Goldstein JL (The Journal of biological chemistry 2000) 2 3 4 22 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 44 58
  4. The importance of acetyl coenzyme A synthetase for 11C-acetate uptake and cell survival in hepatocellular carcinoma. (PMID: 19617323) Yun M … Lee JD (Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2009) 3 22 58
  5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 44 58

Products for ACSS2 Gene

Sources for ACSS2 Gene

Content
Loading form....