ACSS2 Gene (Protein Coding)

Acyl-CoA Synthetase Short Chain Family Member 2

GC20P034873
GIFtS:
45
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... See more...

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
  • Acetyl-Coenzyme A Synthetase, Cytoplasmic 3 4
  • Acetyl-CoA Synthetase 1 3 4
  • Acyl-Activating Enzyme 3 4
  • Propionate--CoA Ligase 3 4
  • EC 6.2.1.1 4 52
  • AceCS1 3 4
  • ACAS2 3 4
  • ACS 3 4
  • Acyl-CoA Synthetase Short-Chain Family Member 2 4
  • 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 6.2.1.17 4
  • EC 6.2.1 52
  • ACECS 3
  • AceCS 4
  • 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 Orofacial Cleft 1 and Cleft Lip. Among its related pathways are Cytochrome P450 - arranged by substrate type and Mitochondrial LC-Fatty Acid Beta-Oxidation. Gene Ontology (GO) annotations related to this gene include AMP binding and acetate-CoA ligase activity. An important paralog of this gene is ACSS1.

UniProtKB/Swiss-Prot Summary for ACSS2 Gene

  • Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:10843999, PubMed:28003429). Acetate is the preferred substrate (PubMed:10843999, PubMed:28003429). Can also utilize propionate with a much lower affinity (By similarity).

Gene Wiki entry for ACSS2 Gene

Additional gene information for ACSS2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACSS2 Gene

Genomics for ACSS2 Gene

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
GH20J034872 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +2.4 2355 7.4 EP300 FOXK2 HNRNPK ZNF217 CTCF NRF1 POLR2G SP1 NCOR1 PHF8 ACSS2 GGT7 PIGU MAP1LC3A PROCR NCOA6 piR-43103-031
GH20J034476 Enhancer 0.9 FANTOM5 Ensembl 4.6 -395.7 -395746 1.6 CTCF SKI CBFB KAT7 TFDP1 RAD21 SAP130 MBD1 SMARCA5 SIN3A ENSG00000277558 FDX1P1 piR-31432-407 piR-43583-333 piR-32677-289 piR-45471-370 piR-31162-296 piR-36393-313 piR-50308-391 piR-43099-363
GH20J034903 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 1.7 +34.3 34254 5.6 JUND FOS ZNF639 EP300 REST MXI1 OSR2 BCL11A NR2F2 FOXA2 NCOA6 PIGU MIR499A EDEM2 MMP24 MMP24OS TRPC4AP ACSS2 TP53INP2 piR-59804-013
GH20J033997 Enhancer 0.3 dbSUPER 4.2 -874.1 -874147 1.6 NR3C1 ACSS2 RALY RALY-AS1 piR-41406-042
GH20J034890 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.4 +19.1 19054 5.2 PHB2 FOS AFF1 USF2 MYC EP300 CTBP1 RBM25 LEF1 NCOR1 CPNE1 RBM39 RBM12 PIGU NCOA6 TRPC4AP RPL36P4 ERGIC3 RALY MAP1LC3A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACSS2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACSS2

Top Transcription factor binding sites by QIAGEN in the ACSS2 gene promoter:
  • AP-1
  • ATF6
  • c-Ets-1
  • c-Fos
  • C/EBPalpha
  • Lmo2

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)
Size:
55,821 bases
Orientation:
Plus strand

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:

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  • 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

  • Reversibly acetylated at Lys-661 (By similarity). The acetyl-CoA synthase activity is inhibited by acetylation and activated by deacetylation mediated by the deacetylases SIRT1 and SIRT3 (By similarity).
  • Ubiquitination at Lys418
  • Modification sites at PhosphoSitePlus

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

Blocks:
  • AMP-binding signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACSS2 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-activating enzyme (ACSA_HUMAN)
  • cDNA FLJ40707 fis, clone THYMU2026835, highly similar to Acetyl-coenzyme A synthetase, cytoplasmic (EC 6.2.1.1) (B3KUV2_HUMAN)
  • cDNA FLJ53719, highly similar to Acetyl-coenzyme A synthetase, cytoplasmic (EC6.2.1.1) (B4DEH9_HUMAN)
  • Acyl-CoA synthetase short-chain family member 2, isoform CRA_c (E1P5P8_HUMAN)
  • ACSS2 protein (Q4G0E8_HUMAN)

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

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  2. CRISPR
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  6. Cell Line

Molecular function for ACSS2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:10843999, PubMed:28003429). Acetate is the preferred substrate (PubMed:10843999, PubMed:28003429). Can also utilize propionate with a much lower affinity (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetate + ATP + CoA = acetyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:23176, ChEBI:CHEBI:30089, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:456215; EC=6.2.1.1; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:23177; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + propanoate = AMP + diphosphate + propanoyl-CoA; Xref=Rhea:RHEA:20373, ChEBI:CHEBI:17272, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57392, ChEBI:CHEBI:456215; EC=6.2.1.17; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:20374; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by acetylation at Lys-661 and activated by deacetylation mediated by the deacetylases SIRT1 and SIRT3.

Enzyme Numbers (IUBMB) for ACSS2 Gene

Phenotypes From GWAS Catalog 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 IC,IEA 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

CRISPR Products

miRNA for ACSS2 Gene

miRTarBase miRNAs that target ACSS2

Clone Products

No data available for 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, cytosol.

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
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 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 IC,IEA 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:0008610 lipid biosynthetic process IMP 10843999
GO:0019413 acetate biosynthetic process IEA --
GO:0019427 acetyl-CoA biosynthetic process from acetate IEA --
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

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(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
Ethanol Approved Pharma 3220
Sodium acetate Approved, Investigational Pharma Enzyme, substrate 0
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2480
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3311

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
 72-89-9
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
 14000-31-8
Acetyl adenylate
  • 5'-O-[Acetoxy(hydroxy)phosphoryl]adenosine
  • 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
  • 5'-Adenylic acid propanoic acid anhydride
  • 5'-Adenylic acid propionic acid anhydride
  • 5'-O-[Hydroxy(propionyloxy)phosphoryl]adenosine
  • Propanoyl-adenosine monophosphate
  • Propionyl-adenosine monophosphate
genes like me logo Genes that share compounds with ACSS2: view

Transcripts for ACSS2 Gene

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

mRNA/cDNA for ACSS2 Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for ACSS2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for ACSS2 Gene
mRNA expression by GTEx for ACSS2 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for ACSS2 Gene



Protein tissue co-expression partners for ACSS2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Kidney(2.9)
  • Muscle(2.8)
  • 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 31 30
  • 99.77 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ACSS2 31 30
  • 91.46 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ACSS2 31 30
  • 91.16 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Acss2 17 31 30
  • 90.58 (n)
rat
(Rattus norvegicus)
 Mammalia Acss2 30
  • 90.58 (n)
oppossum
(Monodelphis domestica)
 Mammalia ACSS2 31
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ACSS2 31 30
  • 74.55 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ACSS2 31
  • 78 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia acss2 30
  • 71.15 (n)
zebrafish
(Danio rerio)
 Actinopterygii acss2 31
  • 74 (a)
 OneToOne
Dr.14648 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006569 30
  • 63.73 (n)
fruit fly
(Drosophila melanogaster)
 Insecta AcCoAS 31 30
  • 62.96 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea acs-19 31 30
  • 55.67 (n)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ACS1 31
  • 42 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons ACS 30
  • 58.24 (n)
soybean
(Glycine max)
 eudicotyledons Gma.1473 30
rice
(Oryza sativa)
 Liliopsida Os02g0525900 30
  • 59.66 (n)
Os.8565 30
wheat
(Triticum aestivum)
 Liliopsida Ta.16490 30
barley
(Hordeum vulgare)
 Liliopsida Hv.487 30
corn
(Zea mays)
 Liliopsida Zm.3669 30
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.2696 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACSS2: view image

Paralogs for ACSS2 Gene

Paralogs for ACSS2 Gene

(7) SIMAP similar genes for ACSS2 Gene using alignment to 15 proteins:

  • ACSA_HUMAN
  • B4DEH9_HUMAN
  • C9IYL0_HUMAN
  • C9J7L5_HUMAN
  • C9JXD9_HUMAN
  • C9JY31_HUMAN
  • E7EWU3_HUMAN
  • F8WBQ7_HUMAN
  • F8WC73_HUMAN
  • F8WCJ4_HUMAN
  • F8WDJ9_HUMAN
  • H0UIA1_HUMAN
  • Q4G0E8_HUMAN
  • Q6DKJ3_HUMAN
  • Q96FY7_HUMAN
genes like me logo Genes that share paralogs with ACSS2: view

Variants for ACSS2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACSS2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
738688 Likely Benign: not provided 34,921,411(+) G/C SYNONYMOUS_VARIANT
738865 Benign: not provided 34,926,136(+) A/G SYNONYMOUS_VARIANT
780604 Benign: not provided 34,919,498(+) T/A MISSENSE_VARIANT
781546 Benign: not provided 34,876,769(+) C/A MISSENSE_VARIANT,INTRON_VARIANT
rs59088485 Pathogenic: Nonsyndromic cleft lip palate 34,921,805(+) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ACSS2 Gene

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

(5) MalaCards diseases for ACSS2 Gene - From: ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
orofacial cleft 1
  • ofc1
cleft lip
  • cheiloschisis
cystoisosporiasis
  • infection by isospora belli and isospora hominis
locked-in syndrome
  • locked in syndrome
cardiomyopathy, infantile histiocytoid
  • cardiomyopathy, infantile xanthomatous
- 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 23 54
  2. Molecular cloning of rat acss3 and characterization of mammalian propionyl-CoA synthetase in the liver mitochondrial matrix. (PMID: 28003429) Yoshimura Y … Yamashita H (Journal of biochemistry 2017) 3 4 54
  3. 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 41 54
  4. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 41 54
  5. 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 23 54

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