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Aliases for ACSM2B Gene

Aliases for ACSM2B Gene

  • Acyl-CoA Synthetase Medium-Chain Family Member 2B 2 3 4 5
  • Xenobiotic/Medium-Chain Fatty Acid-CoA Ligase HXM-A 3 4
  • Acyl-CoA Synthetase Medium-Chain Family Member 2 2 3
  • Middle-Chain Acyl-CoA Synthetase 2B 3 4
  • Butyryl-Coenzyme A Synthetase 2B 3 4
  • Butyrate--CoA Ligase 2B 3 4
  • EC 6.2.1.2 4 63
  • ACSM2 3 4
  • Xenobiotic/Medium Chain Fatty Acid:CoA Ligase 2
  • Xenobiotic/Medium-Chain Fatty Acid:CoA Ligase 3
  • HYST1046 3
  • EC 6.2.1 63
  • HXMA 3

External Ids for ACSM2B Gene

Previous HGNC Symbols for ACSM2B Gene

  • ACSM2

Previous GeneCards Identifiers for ACSM2B Gene

  • GC16M020457
  • GC16M019084

Summaries for ACSM2B Gene

GeneCards Summary for ACSM2B Gene

ACSM2B (Acyl-CoA Synthetase Medium-Chain Family Member 2B) 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 ACSM6.

UniProtKB/Swiss-Prot for ACSM2B 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).

Gene Wiki entry for ACSM2B Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSM2B Gene

Genomics for ACSM2B Gene

Regulatory Elements for ACSM2B Gene

Enhancers for ACSM2B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACSM2B on UCSC Golden Path with GeneCards custom track

Promoters for ACSM2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACSM2B on UCSC Golden Path with GeneCards custom track

Genomic Location for ACSM2B Gene

Chromosome:
16
Start:
20,536,226 bp from pter
End:
20,576,427 bp from pter
Size:
40,202 bases
Orientation:
Minus strand

Genomic View for ACSM2B Gene

Genes around ACSM2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSM2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSM2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSM2B Gene

Proteins for ACSM2B Gene

  • Protein details for ACSM2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68CK6-ACS2B_HUMAN
    Recommended name:
    Acyl-coenzyme A synthetase ACSM2B, mitochondrial
    Protein Accession:
    Q68CK6
    Secondary Accessions:
    • Q86YT1

    Protein attributes for ACSM2B Gene

    Size:
    577 amino acids
    Molecular mass:
    64271 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Monomer.

neXtProt entry for ACSM2B Gene

Proteomics data for ACSM2B Gene at MOPED

Selected DME Specific Peptides for ACSM2B Gene

Post-translational modifications for ACSM2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACSM2B Gene

Gene Families for ACSM2B Gene

Protein Domains for ACSM2B Gene

Suggested Antigen Peptide Sequences for ACSM2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q68CK6

UniProtKB/Swiss-Prot:

ACS2B_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 ACSM2B: view

Function for ACSM2B Gene

Molecular function for ACSM2B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by monovalent cations, such as potassium, rubidium or ammonium.
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).

Enzyme Numbers (IUBMB) for ACSM2B Gene

Phenotypes for ACSM2B Gene

GenomeRNAi human phenotypes for ACSM2B:
genes like me logo Genes that share phenotypes with ACSM2B: view

Animal Model Products

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACSM2B Gene

Localization for ACSM2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSM2B Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACSM2B Gene COMPARTMENTS Subcellular localization image for ACSM2B gene
Compartment Confidence
mitochondrion 5
cytosol 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for ACSM2B Gene

Pathways & Interactions for ACSM2B Gene

genes like me logo Genes that share pathways with ACSM2B: view

Interacting Proteins for ACSM2B Gene

Gene Ontology (GO) - Biological Process for ACSM2B Gene

None

No data available for SIGNOR curated interactions for ACSM2B Gene

Drugs & Compounds for ACSM2B Gene

(12) Drugs for ACSM2B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
butyric acid Experimental Pharma Full agonist, Agonist 348
Diphosphate Experimental Pharma 0
Heptanoic acid Experimental Pharma 0

(33) Additional Compounds for ACSM2B 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 ACSM2B: view

Transcripts for ACSM2B Gene

Unigene Clusters for ACSM2B Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for ACSM2B Gene

No ASD Table

Relevant External Links for ACSM2B Gene

GeneLoc Exon Structure for
ACSM2B
ECgene alternative splicing isoforms for
ACSM2B

Expression for ACSM2B Gene

mRNA expression in normal human tissues for ACSM2B Gene

mRNA differential expression in normal tissues according to GTEx for ACSM2B Gene

This gene is overexpressed in Liver (x34.4) and Kidney - Cortex (x18.3).

Protein differential expression in normal tissues from HIPED for ACSM2B Gene

This gene is overexpressed in Gallbladder (37.5), Kidney (16.6), and Liver (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACSM2B Gene



SOURCE GeneReport for Unigene cluster for ACSM2B Gene Hs.298252

mRNA Expression by UniProt/SwissProt for ACSM2B Gene

Q68CK6-ACS2B_HUMAN
Tissue specificity: Detected in liver.
genes like me logo Genes that share expression patterns with ACSM2B: view

Protein tissue co-expression partners for ACSM2B Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ACSM2B Gene

Orthologs for ACSM2B Gene

This gene was present in the common ancestor of animals.

Orthologs for ACSM2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACSM2B 35
  • 98.73 (n)
  • 97.75 (a)
ACSM2B 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACSM2A 36
  • 80 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 78 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 60 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Acsm2 36
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4563 36
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-16 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
ManyToMany
Species with no ortholog for ACSM2B:
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ACSM2B Gene

ENSEMBL:
Gene Tree for ACSM2B (if available)
TreeFam:
Gene Tree for ACSM2B (if available)

Paralogs for ACSM2B Gene

Paralogs for ACSM2B Gene

genes like me logo Genes that share paralogs with ACSM2B: view

Variants for ACSM2B Gene

Sequence variations from dbSNP and Humsavar for ACSM2B Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs3934804 -- 20,576,344(+) CTGTC(A/G)GAAAG upstream-variant-2KB, utr-variant-5-prime
rs8062555 -- 20,554,965(+) ACCCC(C/G)AGGAC intron-variant
rs12934341 -- 20,543,070(+) ATTCC(A/G)GAAGT intron-variant
rs9746677 -- 20,541,687(+) ttttt(C/T)ttttt intron-variant
rs13331312 -- 20,570,963(+) ctctt(C/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACSM2B Gene

Variant ID Type Subtype PubMed ID
nsv436835 CNV Insertion 17901297
esv1311 CNV CNV 17122850
nsv7279 OTHER Inversion 18451855
dgv827e1 CNV Complex 17122850
dgv828e1 CNV Complex 17122850
nsv1760 CNV Loss 18451855
esv27489 CNV Loss 19812545
dgv829e1 CNV Complex 17122850
essv5757 CNV CNV 17122850
nsv905572 CNV Gain+Loss 21882294
nsv905573 CNV Loss 21882294
nsv833164 CNV Loss 17160897
nsv442394 CNV CNV 18776908
nsv905574 CNV Loss 21882294
nsv905575 CNV Gain 21882294
nsv521570 CNV Gain 19592680
esv2533542 CNV Loss 19546169
nsv103483 CNV Insertion 16902084
nsv507808 CNV Insertion 20534489

Variation tolerance for ACSM2B Gene

Residual Variation Intolerance Score: 96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACSM2B Gene

Human Gene Mutation Database (HGMD)
ACSM2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSM2B Gene

Disorders for ACSM2B Gene

Relevant External Links for ACSM2B

Genetic Association Database (GAD)
ACSM2B
Human Genome Epidemiology (HuGE) Navigator
ACSM2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACSM2B

No disorders were found for ACSM2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACSM2B Gene

Publications for ACSM2B Gene

  1. Isolation, sequencing, and expression of a cDNA for the HXM-A form of xenobiotic/medium-chain fatty acid:CoA ligase from human liver mitochondria. (PMID: 12616642) Vessey D.A. … Warren R.S. (J. Biochem. Mol. Toxicol. 2003) 2 3 4 67
  2. Comparative analyses of disease risk genes belonging to the acyl-CoA synthetase medium-chain (ACSM) family in human liver and cell lines. (PMID: 19634011) Boomgaarden I. … Doering F. (Biochem. Genet. 2009) 3 23
  3. Characterization of triacsin C inhibition of short-, medium-, and long-chain fatty acid: CoA ligases of human liver. (PMID: 15122652) Vessey D.A. … Warren R.S. (J. Biochem. Mol. Toxicol. 2004) 3 23
  4. Genetic determinants influencing human serum metabolome among African Americans. (PMID: 24625756) Yu B. … Boerwinkle E. (PLoS Genet. 2014) 3
  5. Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients. (PMID: 20679960) Hu M. … Tomlinson B. (Pharmacogenet. Genomics 2010) 3

Products for ACSM2B Gene

Sources for ACSM2B Gene

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