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This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate in the glycine conjugation pathway in the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene in the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event. [provided by RefSeq, May 2017]
ACSM2A (Acyl-CoA Synthetase Medium Chain Family Member 2A) is a Protein Coding gene. Diseases associated with ACSM2A include Alzheimer Disease 8 and Retinitis Pigmentosa. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include butyrate-CoA ligase activity. An important paralog of this gene is ACSM2B.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH16J020451 | Promoter/Enhancer | 0.5 | EPDnew dbSUPER | 600.7 | +0.1 | 96 | 0.1 | ACSM2A lnc-ACSM5-3 ACSM2B | ||
GH16J020408 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE | 0.3 | -41.3 | -41260 | 2.8 | HNRNPL GATAD2A REST RBFOX2 BRD4 SP1 CEBPA EED SOX13 TAF1 | ACSM5 piR-34822-119 piR-44560-001 ACSM2A | |
GH16J020424 | Enhancer | 0.9 | ENCODE | 0.3 | -26.8 | -26787 | 1.1 | GATAD2A REST TFE3 RCOR2 RXRB IRF2 SP1 PBX2 CEBPA KMT2B | ACSM5 piR-44560-001 ACSM2A | |
GH16J020426 | Enhancer | 0.8 | ENCODE | 0.4 | -24.8 | -24760 | 1.1 | GATAD2A ATF7 TFE3 RCOR2 RXRB IRF2 SP1 CEBPA FOXK2 SOX13 | ACSM5 PDILT piR-44560-001 ACSM2A | |
GH16J020439 | Enhancer | 0.6 | Ensembl ENCODE | 0.4 | -11.5 | -11520 | 1.9 | SP1 RAD21 HNF4A RXRA | ACSM5 ENSG00000262995 piR-44560-001 ACSM2A |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0003996 | acyl-CoA ligase activity | IBA | 21873635 |
GO:0004321 | fatty-acyl-CoA synthase activity | IBA | 21873635 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | NAS | 19634011 |
GO:0005759 | mitochondrial matrix | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Amino Acid conjugation | ||
2 | Metabolism |
.40
|
|
3 | Cytochrome P450 - arranged by substrate type | ||
4 | Butanoate metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0006633 | fatty acid biosynthetic process | IBA | 21873635 |
GO:0006637 | acyl-CoA metabolic process | IBA | 21873635 |
GO:0036112 | medium-chain fatty-acyl-CoA metabolic process | IDA | 19345228 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
Manganese | Approved | Nutra | 56 | |||
Butyric Acid | Experimental, Investigational | Pharma | Agonist, Full agonist | 25 | ||
Heptanoic acid | Experimental, Investigational | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
(2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
(2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
(2E)-Octenoyl-CoA |
|
10018-94-7 |
|
|||
(2E)-Tetradecenoyl-CoA |
|
38795-33-4 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ACSM2A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACSM2B 30 |
|
||
ACSM2A 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | ACSM2A 30 |
|
||
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Acsm2a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Acsm2 30 17 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG11453 31 |
|
ManyToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | acs-16 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs142460751 | Benign: Abnormality of neuronal migration | 20,460,186(+) | C/G | NONSENSE,INTRON_VARIANT | |
rs755234990 | Benign: Abnormality of neuronal migration | 20,480,826(+) | C/T | MISSENSE_VARIANT | |
rs1054977 | - | p.Ala561Thr | |||
rs1133607 | - | p.Ser513Leu | |||
rs4586421 | - | p.Val337Gly |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2796n100 | CNV | loss | 25217958 |
dgv346n27 | CNV | loss | 19166990 |
dgv48n17 | CNV | loss | 16327808 |
dgv4942n54 | CNV | gain | 21841781 |
dgv4943n54 | CNV | loss | 21841781 |
esv26098 | CNV | loss | 19812545 |
esv2675909 | CNV | deletion | 23128226 |
esv2758635 | CNV | loss | 17122850 |
esv3638138 | CNV | gain | 21293372 |
esv3638141 | CNV | loss | 21293372 |
nsv1046952 | CNV | loss | 25217958 |
nsv1047399 | CNV | gain | 25217958 |
nsv1051811 | CNV | loss | 25217958 |
nsv1079028 | OTHER | inversion | 25765185 |
nsv1125307 | OTHER | inversion | 24896259 |
nsv1146894 | CNV | duplication | 26484159 |
nsv1760 | CNV | deletion | 18451855 |
nsv436835 | CNV | insertion | 17901297 |
nsv437805 | CNV | loss | 16327808 |
nsv516604 | CNV | loss | 19592680 |
nsv525413 | CNV | loss | 19592680 |
nsv7279 | OTHER | inversion | 18451855 |
nsv827582 | CNV | gain | 20364138 |
nsv9389 | CNV | loss | 18304495 |
nsv984287 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alzheimer disease 8 |
|
|
retinitis pigmentosa |
|
|