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
  • A-923A4.1 2 3
  • ACSM2 3 4
  • Acyl-CoA Synthetase Medium-Chain Family Member 2A 4
  • EC 6.2.1.25 4
  • MGC150530 2
  • EC 6.2.1 51
  • ACSM2A 5
  • 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. 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

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:
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;
    Cofactor:
    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

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

Post-translational modifications for ACSM2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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 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

Gene Ontology (GO) - Molecular Function 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 --
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:
  • Acsm2 Acsm2<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

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 3
extracellular 2
cytoskeleton 2
cytosol 2
plasma membrane 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

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 21873635
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

Interacting Proteins for ACSM2A Gene

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 21873635
GO:0006637 acyl-CoA metabolic process IBA 21873635
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

(11) Drugs for ACSM2A Gene - From: HMDB

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

(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
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
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-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • 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

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSM2A

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

No ASD Table

Relevant External Links for ACSM2A Gene

GeneLoc Exon Structure for
ACSM2A

Expression for ACSM2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

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, MaxQB, and MOPED for ACSM2A Gene



Protein tissue co-expression partners 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.656497

Evidence on tissue expression from TISSUES for ACSM2A Gene

  • Liver(4.8)
  • Kidney(4.7)
  • Skin(2.3)
  • Blood(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with ACSM2A: view

Primer 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.

Orthologs for ACSM2A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACSM2A 30 31
  • 99.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACSM2B 30
  • 83.82 (n)
ACSM2A 31
  • 80 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia ACSM2A 30
  • 82.38 (n)
-- 31
  • 79 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Acsm2a 30
  • 81.88 (n)
Mouse
(Mus musculus)
Mammalia Acsm2 30 17 31
  • 81.01 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 73 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 61 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG11453 31
  • 19 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea acs-16 31
  • 17 (a)
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
genes like me logo Genes that share paralogs with ACSM2A: view

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

Additional dbSNP identifiers (rs#s) for ACSM2A Gene

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

MalaCards: The human disease database

(2) MalaCards diseases for ACSM2A Gene - From: DISEASES

Disorder Aliases PubMed IDs
alzheimer disease 8
  • alzheimer disease, familial, 8
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

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

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

Publications for ACSM2A Gene

  1. 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
  2. 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
  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
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. 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

Products for ACSM2A Gene

Sources for ACSM2A Gene