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
- 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
External Ids for ACSS2 Gene
- HGNC: 15814
- Entrez Gene: 55902
- Ensembl: ENSG00000131069
- OMIM: 605832
- UniProtKB: Q9NR19
Previous HGNC Symbols for ACSS2 Gene
- ACAS2
Previous GeneCards Identifiers for ACSS2 Gene
- GC20P032927
- GC20P033459
- GC20P030241
Summaries 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 and Glutathione Synthetase Deficiency. Among its related pathways are Metabolism and ethanol degradation II. 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 for ACSS2 Gene
-
Activates acetate so that it can be used for lipid synthesis or for energy generation.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSS2 Gene
Genomics for ACSS2 Gene
GeneHancer (GH) Regulatory Elements for ACSS2 Gene
Promoters and enhancers for ACSS2 Gene
- 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:
Regulatory Element Products
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:
-
- 20q11.22 by Entrez Gene
- 20q11.22 by HGNC
- 20q11.22 by Ensembl
ACSS2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ACSS2 Gene
Proteins for ACSS2 Gene
-
Protein details for ACSS2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NR19-ACSA_HUMAN
- Recommended name:
- Acetyl-coenzyme A synthetase, cytoplasmic
- Protein Accession:
- Q9NR19
- A6NE90
- Q5QPH2
- Q5QPH3
- Q8N238
- Q96EL0
- Q9NQP7
- Q9UJ15
Protein attributes for ACSS2 Gene
- Size:
- 701 amino acids
- Molecular mass:
- 78580 Da
- Quaternary structure:
-
- Monomer.
Protein Expression for ACSS2 Gene
Post-translational modifications for ACSS2 Gene
Other Protein References for ACSS2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ACSS2
- Invitrogen Antibodies for ACSS2
- GeneTex ACSS2 Antibody for ACSS2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACSS2
Protein Products
-
OriGene Purified Proteins for ACSS2
- Search Origene for MassSpec and Protein Over-expression Lysates for ACSS2
- Origene Custom Protein Services for ACSS2
- antibodies-online: Search results for 5 available ACSS2 Proteins ranked by validation data
- Compare Top ACSS2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for ACSS2
Assay Products
- Novus Biologicals ELISA Kits for ACSS2
No data available for DME Specific Peptides for ACSS2 Gene
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:
- 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- Family:
-
- Belongs to the ATP-dependent AMP-binding enzyme family.
Function for ACSS2 Gene
Molecular function for ACSS2 Gene
- UniProtKB/Swiss-Prot Function:
- Activates acetate so that it can be used for lipid synthesis or for energy generation.
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + acetate + CoA = AMP + diphosphate + acetyl-CoA.
Enzyme Numbers (IUBMB) for ACSS2 Gene
Phenotypes From GWAS Catalog 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 | 10843999 |
| GO:0016874 | ligase activity | IEA | -- |
Phenotypes for ACSS2 Gene
- GenomeRNAi human phenotypes for ACSS2:
Animal Model Products
-
Taconic Biosciences Mouse Models for ACSS2
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACSS2
-
CRISPR Products
-
OriGene CRISPR knockouts for ACSS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACSS2
- genomics-online: gRNA clones - Search results for 122 available ACSS2 gene related products
- Overview of 122 available ACSS2 gene related products
-
Recommended
- Applied Biological Materials CRISPR for ACSS2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACSS2
- GenScript: Design CRISPR guide RNA sequences for ACSS2
miRNA for ACSS2 Gene
- miRTarBase miRNAs that target ACSS2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACSS2
- Browse OriGene Inhibitory RNA Products For ACSS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSS2
- genomics-online: shRNA clones - Search results for 122 available ACSS2 gene related products
- Overview of 122 available ACSS2 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for ACSS2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACSS2
- VectorBuilder custom plasmid, inducible vectors for ACSS2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACSS2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACSS2
- genomics-online: cdna clones - Search results for 122 available ACSS2 gene related products
- Overview of 122 available ACSS2 gene related products
-
Recommended
- orf clones - Search results for 122 available ACSS2 gene related products
- Overview of 122 available ACSS2 gene related products
-
Recommended
- Applied Biological Materials Clones for ACSS2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ACSS2
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 5 |
| peroxisome | 2 |
| plasma membrane | 1 |
- Cytosol (3)
- Vesicles (2)
- Nucleoplasm (1)
| 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 | -- |
Pathways & Interactions for ACSS2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | ethanol degradation II | ||
| 2 | Cytochrome P450 - arranged by substrate type | ||
| 3 | Metabolism |
.37
|
|
| 4 | Carbon metabolism | ||
| 5 | Glucose metabolism | ||
Pathways by source for ACSS2 Gene
8 BioSystems pathways for ACSS2 Gene
4 Reactome pathways for ACSS2 Gene
5 KEGG pathways for ACSS2 Gene
1 Cell Signaling Technology pathway for ACSS2 Gene
Interacting Proteins for ACSS2 Gene
GPS-Prot Interaction Network for ACSS2
| 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 |
No data available for SIGNOR curated interactions for ACSS2 Gene
Drugs & Compounds for ACSS2 Gene
| 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, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 | 2906 | ||
| Docetaxel | Approved, Investigational | Pharma | Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes | 2040 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| acetyl-coa |
|
72-89-9 | ||||
| pyrophosphate |
|
14000-31-8 | ||||
| Acetyl adenylate |
|
13015-87-7 |
|
|||
| Propinol adenylate |
|
|
Transcripts for ACSS2 Gene
mRNA/cDNA for ACSS2 Gene
- (270) Selected AceView cDNA sequences:
- (14) Additional mRNA sequences :
- (14) REFSEQ mRNAs :
- (24) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000253382 2925 bps (uc010gey.3)
- ENST00000360596 3065 bps (uc002xbd.3)
- ENST00000461051 403 bps (uc061wjy.1)
- ENST00000464399 358 bps (uc061wkh.1)
- ENST00000467019 504 bps (uc061wkf.1)
Unigene Clusters for ACSS2 Gene
- Acyl-CoA synthetase short-chain family member 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for ACSS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACSS2
- genomics-online: gRNA clones - Search results for 122 available ACSS2 gene related products
- Overview of 122 available ACSS2 gene related products
-
Recommended
- Applied Biological Materials CRISPR for ACSS2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACSS2
- GenScript: Design CRISPR guide RNA sequences for ACSS2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACSS2
- Browse OriGene Inhibitory RNA Products For ACSS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSS2
- genomics-online: shRNA clones - Search results for 122 available ACSS2 gene related products
- Overview of 122 available ACSS2 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for ACSS2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACSS2
- VectorBuilder custom plasmid, inducible vectors for ACSS2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACSS2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACSS2
- genomics-online: cdna clones - Search results for 122 available ACSS2 gene related products
- Overview of 122 available ACSS2 gene related products
-
Recommended
- orf clones - Search results for 122 available ACSS2 gene related products
- Overview of 122 available ACSS2 gene related products
-
Recommended
- Applied Biological Materials Clones for ACSS2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for ACSS2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Blood (Cardiovascular System)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
- Gut Tube (Gastrointestinal Tract)
- Intestine (Gastrointestinal Tract)
- NULL (Uncategorized)
-
Colon (Gastrointestinal Tract)
-
Kidney (Urinary System)
-
Stomach (Gastrointestinal Tract)
-
Adipose (Muscoskeletal System)
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
NURSA nuclear receptor signaling pathways regulating expression of ACSS2 Gene:
ACSS2SOURCE GeneReport for Unigene cluster for ACSS2 Gene:
Hs.517034Evidence 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)
Primer Products
-
OriGene qPCR primer pairs and template standards for ACSS2
-
OriGene qPCR primer pairs for ACSS2
- genomics-online: primer clones - Search results for 122 available ACSS2 gene related products
- Overview of 122 available ACSS2 gene related products
-
Recommended
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ACSS2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ACSS2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ACSS2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Acss2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Acss2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ACSS2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ACSS2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ACSS2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | acss2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | acss2 34 |
|
OneToOne | |
| Dr.14648 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006569 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | AcCoAS 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | acs-19 34 33 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ACS1 34 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | ACS 33 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.1473 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0525900 33 |
|
||
| Os.8565 33 |
|
||||
| corn (Zea mays) |
Liliopsida | Zm.3669 33 |
|
||
| barley (Hordeum vulgare) |
Liliopsida | Hv.487 33 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.16490 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2696 34 |
|
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
(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
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSS2 Gene
Disorders for ACSS2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cystoisosporiasis |
|
|
| glutathione synthetase deficiency |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for ACSS2 Gene
Publications for ACSS2 Gene
- 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
- 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
- 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
- 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
- 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
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- Taconic Biosciences Mouse Models for ACSS2
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- antibodies-online: Search results for 87 available ACSS2 Antibodies ranked by validation data
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- Quality Products:
- GeneTex ACSS2 Antibody for ACSS2
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- Santa Cruz Biotechnology (SCBT) Antibodies for ACSS2
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- Overview of 122 available ACSS2 gene related products
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Sources for ACSS2 Gene
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