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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 level... See more...
Aliases for ACSM2A Gene
Aliases for ACSM2A Gene
- Acyl-CoA Synthetase Medium Chain Family Member 2A 2 3 5
- Acyl-CoA Synthetase Medium-Chain Family Member 2 2 3
- Acyl-Coenzyme A Synthetase ACSM2A, Mitochondrial 3 4
- Middle-Chain Acyl-CoA Synthetase 2A 3 4
- Butyryl-Coenzyme A Synthetase 2A 3 4
- Butyrate--CoA Ligase 2A 3 4
- Benzoate--CoA Ligase 3 4
- EC 6.2.1.2 4 51
External Ids for ACSM2A Gene
- HGNC: 32017
- Entrez Gene: 123876
- Ensembl: ENSG00000183747
- OMIM: 614358
- UniProtKB: Q08AH3
Previous HGNC Symbols for ACSM2A Gene
- ACSM2
Previous GeneCards Identifiers for ACSM2A Gene
- GC16P020372
- GC16P018999
Summaries for ACSM2A Gene
-
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]
GeneCards Summary for ACSM2A Gene
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.
UniProtKB/Swiss-Prot Summary for ACSM2A Gene
-
Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. benzoate (By similarity).
Additional gene information for ACSM2A Gene
- HGNC(32017)
- Entrez Gene(123876)
- Ensembl(ENSG00000183747)
- OMIM(614358)
- UniProtKB(Q08AH3)
- Open Targets Platform(ENSG00000183747)
- Search for ACSM2A at DataMed
- Search for ACSM2A at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACSM2A Gene
Genomics for ACSM2A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ACSM2A 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ACSM2A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACSM2A
- Top Transcription factor binding sites by QIAGEN in the ACSM2A gene promoter:
-
- AML1a
- ATF-2
- STAT1
- STAT1alpha
- STAT1beta
- STAT2
- STAT3
- STAT4
- STAT5A
- STAT5B
Genomic Locations for ACSM2A Gene
Genomic Locations for ACSM2A Gene
- chr16:20,451,461-20,487,669
- (GRCh38/hg38)
- Size:
- 36,209 bases
- Orientation:
- Plus strand
- chr16:20,462,783-20,498,991
- (GRCh37/hg19)
- Size:
- 36,209 bases
- Orientation:
- Plus strand
Genomic View for ACSM2A Gene
Genes around ACSM2A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p12.3 by HGNC
- 16p12.3 by Entrez Gene
- 16p12.3 by Ensembl
ACSM2A 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 ACSM2A Gene
Proteins for ACSM2A Gene
-
Protein details for ACSM2A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q08AH3-ACS2A_HUMAN
- Recommended name:
- Acyl-coenzyme A synthetase ACSM2A, mitochondrial
- Protein Accession:
- Q08AH3
- B3KTT9
- O75202
Protein attributes for ACSM2A Gene
- Size:
- 577 amino acids
- Molecular mass:
- 64223 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Monomer.
- SequenceCaution:
-
- Sequence=AAC23497.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for ACSM2A Gene
Selected DME Specific Peptides for ACSM2A Gene
- Q08AH3:
-
- SGYRIGP
- TAPYKYPRK
- GNVLPPG
- DILYRLQ
- ETAVISSPDP
- RGEVVKAF
- APYKYPR
Post-translational modifications for ACSM2A Gene
Other Protein References for ACSM2A Gene
Antibody Products
- Creative Diagnostics Anti-ACSM2A (aa 195-434) polyclonal antibody
- Creative Biolabs Rabbit Anti-ACSM2A Recombinant Antibody (CBYC-A242)
-
Custom Antibody ServicesOriGene Antibodies for ACSM2A
- Novus Biologicals Antibodies for ACSM2A
-
Abcam antibodies for ACSM2A
- Invitrogen Antibodies for ACSM2A (AFLGC-ACSM2A)
Protein Products
-
OriGene Purified Proteins for ACSM2A
- Search Origene for MassSpec and Protein Over-expression Lysates for ACSM2A
- Origene Custom Protein Services for ACSM2A
- Novus Biologicals proteins for ACSM2A
-
Abcam proteins for ACSM2A
Domains & Families for ACSM2A Gene
Gene Families for ACSM2A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for ACSM2A Gene
- InterPro:
- Blocks:
-
- AMP-binding signature
- ProtoNet:
Suggested Antigen Peptide Sequences for ACSM2A Gene
- GenScript: Design optimal peptide antigens:
-
- Middle-chain acyl-CoA synthetase 2A (ACS2A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q08AH3- Family:
-
- Belongs to the ATP-dependent AMP-binding enzyme family.
Function for ACSM2A Gene
Molecular function for ACSM2A Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (By similarity). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. benzoate (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a medium chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:48340, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:59558, ChEBI:CHEBI:90546, ChEBI:CHEBI:456215; EC=6.2.1.2; Evidence={ECO:0000250|UniProtKB:Q68CK6};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + benzoate + CoA = AMP + benzoyl-CoA + diphosphate; Xref=Rhea:RHEA:10132, ChEBI:CHEBI:16150, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57369, ChEBI:CHEBI:456215; EC=6.2.1.25; Evidence={ECO:0000250|UniProtKB:Q68CK6};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + CoA + hexanoate = AMP + diphosphate + hexanoyl-CoA; Xref=Rhea:RHEA:43740, ChEBI:CHEBI:17120, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:62620, ChEBI:CHEBI:456215; Evidence={ECO:0000250|UniProtKB:Q68CK6};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + butanoate + CoA = AMP + butanoyl-CoA + diphosphate; Xref=Rhea:RHEA:46172, ChEBI:CHEBI:17968, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57371, ChEBI:CHEBI:456215; Evidence={ECO:0000250|UniProtKB:Q68CK6};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + CoA + octanoate = AMP + diphosphate + octanoyl-CoA; Xref=Rhea:RHEA:33631, ChEBI:CHEBI:25646, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57386, ChEBI:CHEBI:456215; Evidence={ECO:0000250|UniProtKB:Q68CK6};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + CoA + decanoate = AMP + decanoyl-CoA + diphosphate; Xref=Rhea:RHEA:33627, ChEBI:CHEBI:27689, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:61430, ChEBI:CHEBI:456215; Evidence={ECO:0000250|UniProtKB:Q68CK6};.
Enzyme Numbers (IUBMB) for ACSM2A Gene
Phenotypes From GWAS Catalog for ACSM2A Gene
| 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 | -- |
Phenotypes for ACSM2A Gene
- MGI mutant phenotypes for ACSM2A:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ACSM2A:
Animal Models for ACSM2A Gene
- MGI Knock Outs for ACSM2A:
-
- Acsm2 Acsm2<tm1.1(KOMP)Vlcg>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACSM2A - Select products 50% OFF >
- * ACSM2A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ACSM2A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACSM2A
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACSM2A
miRNA for ACSM2A Gene
- miRTarBase miRNAs that target ACSM2A
-
- hsa-miR-18a-3p (MIRT040745)
- hsa-miR-3184-3p (MIRT607216)
- hsa-miR-6818-3p (MIRT607217)
- hsa-miR-6888-3p (MIRT607218)
- hsa-miR-6873-3p (MIRT607219)
- hsa-miR-593-3p (MIRT607220)
- hsa-miR-6895-3p (MIRT607221)
- hsa-miR-3120-5p (MIRT607222)
- hsa-miR-6817-3p (MIRT607223)
- hsa-miR-7110-3p (MIRT607224)
- hsa-miR-3615 (MIRT607225)
- hsa-miR-6812-3p (MIRT607226)
- hsa-miR-216b-5p (MIRT607227)
- hsa-miR-6807-5p (MIRT609218)
- hsa-miR-8055 (MIRT625066)
- hsa-miR-6844 (MIRT631004)
- hsa-miR-3191-5p (MIRT631005)
- hsa-miR-6758-3p (MIRT631006)
- hsa-miR-5571-5p (MIRT642458)
- hsa-miR-4742-3p (MIRT661230)
- hsa-let-7a-2-3p (MIRT783016)
- hsa-let-7g-3p (MIRT783034)
- hsa-miR-218-2-3p (MIRT784252)
- hsa-miR-374a-5p (MIRT785351)
- hsa-miR-374b-5p (MIRT785357)
- hsa-miR-4320 (MIRT785752)
- hsa-miR-4797-5p (MIRT786823)
- hsa-miR-526b-5p (MIRT787360)
- hsa-miR-6847-5p (MIRT789057)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACSM2A
- Browse OriGene Inhibitory RNA Products For ACSM2A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSM2A
Clone Products
- Applied Biological Materials (abm): Clones for ACSM2A - Select products 50% OFF >
- * ACSM2A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ACSM2A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACSM2A
Cell Line Products
-
Horizon Cell Lines for ACSM2A
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACSM2A Gene
Localization for ACSM2A Gene
Subcellular locations from UniProtKB/Swiss-Prot for ACSM2A Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | NAS | 19634011 |
| GO:0005759 | mitochondrial matrix | IBA | 21873635 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACSM2A Gene
Pathways & Interactions for ACSM2A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Amino Acid conjugation | ||
| 2 | Metabolism |
.40
|
|
| 3 | Cytochrome P450 - arranged by substrate type | ||
| 4 | Butanoate metabolism | ||
Pathways by source for ACSM2A Gene
6 Reactome pathways for ACSM2A Gene
2 KEGG pathways for ACSM2A Gene
Interacting Proteins for ACSM2A Gene
GPS-Prot Interaction Network for ACSM2A
| 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 |
No data available for SIGNOR curated interactions for ACSM2A Gene
Drugs & Compounds for ACSM2A Gene
| 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 |
|
Transcripts for ACSM2A Gene
mRNA/cDNA for ACSM2A Gene
- 4 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000574251 545 nts (view in UCSC)
- ENST00000570698 1910 nts (view in UCSC)
- ENST00000576361 556 nts (view in UCSC)
- ENST00000417235 1835 nts (view in UCSC)
- ENST00000575558 1527 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACSM2A - Select products 50% OFF >
- * ACSM2A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ACSM2A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACSM2A
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACSM2A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACSM2A
- Browse OriGene Inhibitory RNA Products For ACSM2A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSM2A
Clone Products
- Applied Biological Materials (abm): Clones for ACSM2A - Select products 50% OFF >
- * ACSM2A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ACSM2A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACSM2A
Relevant External Links for ACSM2A Gene
- GeneLoc Exon Structure for
- ACSM2A
Expression for ACSM2A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for ACSM2A Gene
This gene is overexpressed in Liver (x34.0) and Kidney - Cortex (x18.6).
This gene is overexpressed in Gallbladder (43.5), Liver (15.3), and Kidney (9.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACSM2A Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACSM2A
SOURCE GeneReport for Unigene cluster for ACSM2A Gene:
Hs.656497Evidence on tissue expression from TISSUES for ACSM2A Gene
- Liver(4.8)
- Kidney(4.7)
- Skin(2.3)
- Blood(2.1)
- Intestine(2)
Primer Products
-
OriGene qPCR primer pairs for ACSM2A
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSM2A Gene
Orthologs for ACSM2A Gene
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 |
- Species where no ortholog for ACSM2A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- 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)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Zebrafish (Danio rerio)
Evolution for ACSM2A Gene
- ENSEMBL:
- Gene Tree for ACSM2A (if available)
- TreeFam:
- Gene Tree for ACSM2A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ACSM2A: view image
Paralogs for ACSM2A Gene
Paralogs for ACSM2A Gene
(9) SIMAP similar genes for ACSM2A Gene using alignment to 7 proteins:
- ACS2A_HUMAN
- E7EPS5_HUMAN
- F5GWL3_HUMAN
- F5H4B8_HUMAN
- I3L2Y5_HUMAN
- I3L339_HUMAN
- I3L438_HUMAN
Variants for ACSM2A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACSM2A Gene
| 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 |
Residual Variation Intolerance Score:
96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.46;
88.66% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ACSM2A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ACSM2A
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSM2A Gene
Disorders for ACSM2A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alzheimer disease 8 |
|
|
| retinitis pigmentosa |
|
|
Search ACSM2A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ACSM2A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ACSM2A Gene
Publications for ACSM2A Gene
- Structural snapshots for the conformation-dependent catalysis by human medium-chain acyl-coenzyme A synthetase ACSM2A. (PMID: 19345228) Kochan G … Yue WW (Journal of molecular biology 2009) 2 3 4
- Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B. (PMID: 29948332) van der Sluis R (Molecular genetics and genomics : MGG 2018) 2 3
- Xenobiotic/medium chain fatty acid: CoA ligase - a critical review on its role in fatty acid metabolism and the detoxification of benzoic acid and aspirin. (PMID: 27351777) van der Sluis R … Erasmus E (Expert opinion on drug metabolism & toxicology 2016) 3 4
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
- The L513S polymorphism in medium-chain acyl-CoA synthetase 2 (MACS2) is associated with risk factors of the metabolic syndrome in a Caucasian study population. (PMID: 16521160) Lindner I … Döring F (Molecular nutrition & food research 2006) 3 4
ExternalLinks
Products for ACSM2A Gene
- Custom Antibody ServicesOriGene Antibodies for ACSM2A
- Browse OriGene ELISA Kits
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- antibodies-online: Show 9 available ACSM2A Antibodies ranked by validation data
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- antibodies-online: Search results for available ACSM2A related products ranked by validation data
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for ACSM2A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSM2A
Sources for ACSM2A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
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- (58) Novus Biologicals
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
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- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
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- (115) NCBI Bookshelf
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- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
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- (128) SNPedia
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- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
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- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
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- (159) GeneImprint
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- (164) LncBook
- (165) LNCipedia
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- (178) MirGeneDB