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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]
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 Glucose metabolism and Signaling events mediated by HDAC Class III. Gene Ontology (GO) annotations related to this gene include AMP binding and acetate-CoA ligase activity. An important paralog of this gene is ACSS1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
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 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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | ethanol degradation II | ||
2 | Cytochrome P450 - arranged by substrate type | ||
3 | Metabolism |
.40
|
|
4 | Glucose / Energy Metabolism | ||
5 | Carbon metabolism |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Adenosine monophosphate | Approved, Investigational | Nutra | Target, product of | 0 | ||
Ethanol | Approved | Pharma | 3266 | |||
Bempedoic acid | Approved, Investigational | Pharma | Enzyme, substrate | 0 | ||
Sodium acetate | Approved, Investigational | Pharma | Enzyme, substrate | 0 | ||
Carboplatin | Approved | Pharma | Antitumor agent that forms platinum-DNA adducts., Platinum | 2588 |
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 |
|
|
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ACSS2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ACSS2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACSS2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Acss2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Acss2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ACSS2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ACSS2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ACSS2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | acss2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | acss2 31 |
|
OneToOne | |
Dr.14648 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006569 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | AcCoAS 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | acs-19 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ACS1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ACS 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.1473 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0525900 30 |
|
||
Os.8565 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.487 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.16490 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.3669 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2696 31 |
|
OneToOne |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
orofacial cleft 1 |
|
|
cleft lip |
|
|
cardiomyopathy, infantile histiocytoid |
|
|
fetal akinesia deformation sequence 1 |
|
|