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Aliases for ACSM2A Gene

Aliases for ACSM2A Gene

  • Acyl-CoA Synthetase Medium-Chain Family Member 2A 2 3 4 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 61
  • ACSM2 3 4
  • Acyl-Coenzyme A Synthetase ACSM2A, Mitochondrial 3
  • Homolog Of Rat Kidney-Specific (KS) 3
  • A-923A4.1 3
  • EC 6.2.1 61
  • 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

GeneCards Summary for ACSM2A Gene

ACSM2A (Acyl-CoA Synthetase Medium-Chain Family Member 2A) is a Protein Coding gene. Among its related pathways are Amino Acid conjugation and Phase II conjugation. 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).

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

Genomics for ACSM2A Gene

Regulatory Elements for ACSM2A Gene

Enhancers for ACSM2A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ACSM2A on UCSC Golden Path with GeneCards custom track

Genomic Location for ACSM2A Gene

Chromosome:
16
Start:
20,451,461 bp from pter
End:
20,487,669 bp from pter
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:
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 StructureGene 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
    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

Selected DME Specific Peptides for ACSM2A Gene

Post-translational modifications for ACSM2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACSM2A Gene

Gene Families for ACSM2A Gene

Protein Domains for ACSM2A Gene

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

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

Gene Ontology (GO) - Molecular Function for ACSM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding IEA --
GO:0047760 butyrate-CoA ligase activity IDA 19345228
genes like me logo Genes that share ontologies with ACSM2A: view

Phenotypes for ACSM2A Gene

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

Animal Models for ACSM2A Gene

MGI Knock Outs for ACSM2A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Jensen Localization Image for ACSM2A Gene COMPARTMENTS Subcellular localization image for ACSM2A gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 1
peroxisome 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 IEA --
genes like me logo Genes that share ontologies with ACSM2A: view

Pathways & Interactions for ACSM2A Gene

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

Pathways by source for ACSM2A Gene

Interacting Proteins for ACSM2A Gene

Gene Ontology (GO) - Biological Process for ACSM2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process IEA --
GO:0036112 medium-chain fatty-acyl-CoA metabolic process IDA 19345228
GO:0042593 glucose homeostasis NAS 16521160
GO:0070328 triglyceride homeostasis NAS 16521160
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

(10) Drugs for ACSM2A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Manganese Approved Nutra 33
butyric acid Experimental Pharma Full agonist, Agonist 350
Heptanoic acid Experimental Pharma 0

(34) 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

Unigene Clusters for ACSM2A Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

mRNA expression in normal human tissues 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
genes like me logo Genes that share expression patterns with ACSM2A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia ACSM2B 34
  • 83.82 (n)
  • 81.07 (a)
ACSM2A 35
  • 80 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ACSM2A 34
  • 82.38 (n)
  • 79.03 (a)
-- 35
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Acsm2 34
  • 81.01 (n)
  • 76.31 (a)
Acsm2 16
Acsm2 35
  • 73 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ACSM2A 34
  • 99.13 (n)
  • 98.79 (a)
ACSM2A 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acsm2a 34
  • 81.88 (n)
  • 77.97 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11453 35
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-16 35
  • 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

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

Variants for ACSM2A Gene

Sequence variations from dbSNP and Humsavar for ACSM2A Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1133607 - 20,483,086(+) GGCCT(C/G/T)GCAGT nc-transcript-variant, reference, missense
rs1054977 - 20,486,625(+) AACGA(A/C/G)CCAAG nc-transcript-variant, reference, missense
rs4643305 - 20,475,678(+) ACTGC(A/C/G)TCACT nc-transcript-variant, reference, missense
VAR_058693 -
rs4586421 - 20,475,685(+) CACTG(C/G/T)AGGGG nc-transcript-variant, reference, missense

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)

Relevant External Links 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

Relevant External Links for ACSM2A

Genetic Association Database (GAD)
ACSM2A
Human Genome Epidemiology (HuGE) Navigator
ACSM2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACSM2A

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 S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  2. Structural snapshots for the conformation-dependent catalysis by human medium-chain acyl-coenzyme A synthetase ACSM2A. (PMID: 19345228) Kochan G. … Yue W.W. (J. Mol. Biol. 2009) 3 4 65
  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. … Doering F. (Mol. Nutr. Food Res. 2006) 3 4 65
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  5. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus B.J. … Adams M.D. (Genomics 1999) 3 4 65

Products for ACSM2A Gene

Sources for ACSM2A Gene

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