Free for academic non-profit institutions. Other users need a Commercial license

ACSM2A Gene(Protein Coding)

Acyl-CoA Synthetase Medium Chain Family Member 2A

GCID:
GC16P020463
GIFtS:
44
Genes Participants
UDN Logo

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
  • Middle-Chain Acyl-CoA Synthetase 2A 3 4
  • Butyryl-Coenzyme A Synthetase 2A 3 4
  • Butyrate--CoA Ligase 2A 3 4
  • EC 6.2.1.2 4 56
  • ACSM2 3 4
  • Acyl-CoA Synthetase Medium-Chain Family Member 2A 4
  • Acyl-Coenzyme A Synthetase ACSM2A, Mitochondrial 3
  • A-923A4.1 3
  • EC 6.2.1 56
  • MACS2 4

External Ids for ACSM2A Gene

Previous HGNC Symbols for ACSM2A Gene

  • ACSM2

Previous GeneCards Identifiers for ACSM2A Gene

  • GC16P020372
  • GC16P018999

Summaries for ACSM2A Gene

Entrez Gene Summary 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. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include butyrate-CoA ligase activity. An important paralog of this gene is ACSM2B.

UniProtKB/Swiss-Prot for ACSM2A Gene

  • Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).

Additional gene information for ACSM2A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSM2A Gene

Genomics for ACSM2A Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ACSM2A Gene

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
GH16I020451 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.8 +0.1 96 0.1 ACSM2A ENSG00000280306
GH16I020484 Enhancer 0.6 ENCODE 0.3 +33.5 33475 0.6 GATAD2A TFAP4 HLF TAL1 CBFA2T3 ZNF644 TEAD3 NFIL3 ATF4 CEBPA ACSM1 ENSG00000280306 ACSM2A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACSM2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACSM2A gene promoter:

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)

Genomic View for ACSM2A Gene

Genes around ACSM2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSM2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSM2A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ACSM2A Gene

Proteins for ACSM2A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ACSM2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08AH3-ACS2A_HUMAN
    Recommended name:
    Acyl-coenzyme A synthetase ACSM2A, mitochondrial
    Protein Accession:
    Q08AH3
    Secondary Accessions:
    • B3KTT9
    • O75202

    Protein attributes for ACSM2A Gene

    Size:
    577 amino acids
    Molecular mass:
    64223 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAC23497.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ACSM2A Gene

neXtProt entry for ACSM2A Gene

Protein Expression for ACSM2A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ACSM2A Gene

Q08AH3:
  • SGYRIGP
  • TAPYKYPRK
  • GNVLPPG
  • DILYRLQ
  • ETAVISSPDP
  • RGEVVKAF
  • APYKYPR

Post-translational modifications for ACSM2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACSM2A Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
ProtoNet:

Suggested Antigen Peptide Sequences for ACSM2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q08AH3

UniProtKB/Swiss-Prot:

ACS2A_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 ACSM2A: view

Function for ACSM2A Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ACSM2A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.
UniProtKB/Swiss-Prot Function:
Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).

Enzyme Numbers (IUBMB) for ACSM2A Gene

Phenotypes From GWAS Catalog for ACSM2A Gene

Gene Ontology (GO) - Molecular Function for ACSM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003996 acyl-CoA ligase activity IBA --
GO:0004321 fatty-acyl-CoA synthase activity IBA --
GO:0005524 ATP binding IEA --
GO:0015645 fatty acid ligase activity IBA --
genes like me logo Genes that share ontologies with ACSM2A: view
genes like me logo Genes that share phenotypes with ACSM2A: view

Animal Models for ACSM2A Gene

MGI Knock Outs for ACSM2A:

Animal Model Products

Clone Products

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 matrix.

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 ACSM2A gene
Compartment Confidence
mitochondrion 5
nucleus 2
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ACSM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 19634011
GO:0005759 mitochondrial matrix IBA --
genes like me logo Genes that share ontologies with ACSM2A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACSM2A Gene

Pathways & Interactions for ACSM2A Gene

genes like me logo Genes that share pathways with ACSM2A: view

Pathways by source for ACSM2A Gene

1 PharmGKB pathway for ACSM2A Gene
2 KEGG pathways for ACSM2A Gene

Interacting Proteins for ACSM2A Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000219054%0d%0a9606.ENSP00000242592%0d%0a9606.ENSP00000355050%0d%0a9606.ENSP00000326813%0d%0a9606.ENSP00000231887%0d%0a9606.ENSP00000370023%0d%0a
Selected Interacting proteins: ENSP00000219054 Q08AH3-ACS2A_HUMAN for ACSM2A Gene via STRING IID

Gene Ontology (GO) - Biological Process for ACSM2A Gene

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 --
GO:0008152 metabolic process IEA --
GO:0036112 medium-chain fatty-acyl-CoA metabolic process IDA 19345228
genes like me logo Genes that share ontologies with ACSM2A: view

No data available for SIGNOR curated interactions for ACSM2A Gene

Drugs & Compounds for ACSM2A Gene

Products:

  1. Drug

(11) Drugs for ACSM2A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Magnesium Approved Nutra 0
Manganese Approved Nutra 37
Butyric Acid Experimental, Investigational Pharma Full agonist, Agonist 408
Heptanoic acid Experimental, Investigational Pharma 0

(33) Additional Compounds for ACSM2A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
 10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
 1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
 4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
 10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
 38795-33-4
genes like me logo Genes that share compounds with ACSM2A: view

Transcripts for ACSM2A Gene

Products:

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

mRNA/cDNA for ACSM2A Gene

(8) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(132) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACSM2A Gene

Acyl-CoA synthetase medium-chain family member 2A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACSM2A Gene

No ASD Table

Relevant External Links for ACSM2A Gene

GeneLoc Exon Structure for
ACSM2A
ECgene alternative splicing isoforms for
ACSM2A

Expression for ACSM2A Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACSM2A Gene

mRNA expression in normal human tissues for ACSM2A Gene
mRNA expression by GTEx for ACSM2A GenemRNA expression by BioGPS for ACSM2A Gene

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).

Protein differential expression in normal tissues from HIPED for ACSM2A Gene

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, PaxDb, MaxQB, and MOPED for ACSM2A Gene



Protein tissue co-expression partners for ACSM2A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACSM2A Gene:

ACSM2A

SOURCE GeneReport for Unigene cluster for ACSM2A Gene:

Hs.656497

Evidence on tissue expression from TISSUES for ACSM2A Gene

  • Liver(4.6)
  • Kidney(4.5)
genes like me logo Genes that share expression patterns with ACSM2A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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.

Orthologs for ACSM2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ACSM2A 33 34
  • 99.13 (n)
cow
(Bos Taurus)
 Mammalia ACSM2B 33
  • 83.82 (n)
ACSM2A 34
  • 80 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia ACSM2A 33
  • 82.38 (n)
-- 34
  • 79 (a)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Acsm2a 33
  • 81.88 (n)
mouse
(Mus musculus)
 Mammalia Acsm2 33 16 34
  • 81.01 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 73 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 61 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG11453 34
  • 19 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea acs-16 34
  • 17 (a)
 OneToMany
Species where no ortholog for ACSM2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ACSM2A Gene

Paralogs for ACSM2A Gene

(9) SIMAP similar genes for ACSM2A Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ACSM2A: view

Variants for ACSM2A Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ACSM2A Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs142460751 benign, Abnormality of neuronal migration 20,460,186(+) C/G/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs755234990 benign, Abnormality of neuronal migration 20,480,826(+) C/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000014458 -- 20,459,963(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000169865 -- 20,485,615(+) AAAAA/A genic_downstream_transcript_variant, intron_variant
rs1000328189 -- 20,457,357(+) A/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ACSM2A Gene

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

Variation tolerance for ACSM2A Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSM2A Gene

Disorders for ACSM2A Gene

Additional Disease Information for ACSM2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ACSM2A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACSM2A Gene

Publications for ACSM2A Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  2. 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) 3 4 58
  3. 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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus BJ … Adams MD (Genomics 1999) 3 4 58

Products for ACSM2A Gene

Sources for ACSM2A Gene

Content
Loading form....