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ACSM2B acyl-CoA synthetase medium chain family member 2B [ Homo sapiens (human) ]

Gene ID: 348158, updated on 27-Nov-2024

Summary

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Official Symbol
ACSM2Bprovided by HGNC
Official Full Name
acyl-CoA synthetase medium chain family member 2Bprovided by HGNC
Primary source
HGNC:HGNC:30931
See related
Ensembl:ENSG00000066813 MIM:614359; AllianceGenome:HGNC:30931
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HXMA; ACSM2; HYST1046
Summary
Enables benzoate-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward kidney (RPKM 155.6) See more
Orthologs
all
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Genomic context

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See ACSM2B in Genome Data Viewer
Location:
16p12.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20536226..20576367, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20467090..20507346, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20547548..20587689, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371119 Neighboring gene acyl-CoA synthetase medium chain family member 2A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:20503203-20503703 Neighboring gene uncharacterized LOC105371120 Neighboring gene acyl-coenzyme A synthetase ACSM5, mitochondrial-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Characterization of triacsin C inhibition of short-, medium-, and long-chain fatty acid: CoA ligases of human liver. Vessey DA, et al. J Biochem Mol Toxicol, 2004. PMID 15122652
  2. Isolation, sequencing, and expression of a cDNA for the HXM-A form of xenobiotic/medium-chain fatty acid:CoA ligase from human liver mitochondria. Vessey DA, et al. J Biochem Mol Toxicol, 2003. PMID 12616642
  3. Characterization of the reaction mechanism for the XL-I form of bovine liver xenobiotic/medium-chain fatty acid:CoA ligase. Vessey DA, et al. Biochem J, 2001 Jul 1. PMID 11415461, Free PMC Article
  4. Isolation from bovine liver mitochondria and characterization of three distinct carboxylic acid: CoA ligases with activity toward xenobiotics. Vessey DA, et al. J Biochem Toxicol, 1995 Dec. PMID 8934636
  5. Interaction of salicylate and ibuprofen with the carboxylic acid: CoA ligases from bovine liver mitochondria. Vessey DA, et al. J Biochem Toxicol, 1996. PMID 8884467

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This study assessed the naturally observed sequence diversity and protein expression variation of ACSM2A and ACSM2B. The allelic variation, haplotype diversity, Tajima's D values, and phylogenetic analyses indicated that ACSM2A and ACSM2B are highly conserved.The protein expression analyses showed that ACSM2A is the predominant transcript in liver.
    Title: Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.
  3. results suggest an involvement of the medium-chain acyl-CoA synthetase 2 (MACS2) Leu513Ser polymorphism in the development of the metabolic syndrome in Caucasian population
    Title: 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.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic determinants influencing human serum metabolome among African Americans.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables CoA-ligase activity TAS
Traceable Author Statement
more info
  
enables benzoate-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables decanoate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables fatty acid ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables fatty-acyl-CoA synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in acyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in xenobiotic metabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
acyl-coenzyme A synthetase ACSM2B, mitochondrial
Names
acyl-CoA synthetase medium-chain family member 2
benzoate--CoA ligase
butyrate--CoA ligase 2B
butyryl-coenzyme A synthetase 2B
middle-chain acyl-CoA synthetase 2B
xenobiotic/medium-chain fatty acid-CoA ligase HXM-A
xenobiotic/medium-chain fatty acid:CoA ligase
NP_001098539.1
NP_001397831.1
NP_872423.3
XP_016878694.1
XP_047290012.1
XP_054236212.1
XP_054236213.1
XP_054236214.1
XP_054236215.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001105069.2 → NP_001098539.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_001098539.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC141053, AC141273
    Consensus CDS
    CCDS10586.1
    UniProtKB/Swiss-Prot
    Q68CK6, Q86YT1
    UniProtKB/TrEMBL
    A8K051
    Related
    ENSP00000327453.6, ENST00000329697.10
    Conserved Domains (1) summary
    cl17068
    Location:40 → 568
    AFD_class_I; Adenylate forming domain, Class I superfamily

  2. NM_001410902.1 → NP_001397831.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC141053, AC141273
    Consensus CDS
    CCDS92120.1
    UniProtKB/TrEMBL
    H3BTX9
    Related
    ENSP00000457377.1, ENST00000565322.5

  3. NM_182617.4 → NP_872423.3  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_872423.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AC141053, AC141273
    Consensus CDS
    CCDS10586.1
    UniProtKB/Swiss-Prot
    Q68CK6, Q86YT1
    UniProtKB/TrEMBL
    A8K051
    Related
    ENSP00000456378.1, ENST00000567001.5
    Conserved Domains (1) summary
    cl17068
    Location:40 → 568
    AFD_class_I; Adenylate forming domain, Class I superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    20536226..20576367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434056.1 → XP_047290012.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X2

  2. XM_017023205.3 → XP_016878694.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X1

RNA

  1. XR_001751899.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    20467090..20507346 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380237.1 → XP_054236212.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X3

  2. XM_054380240.1 → XP_054236215.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X4

  3. XM_054380238.1 → XP_054236213.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X1

  4. XM_054380239.1 → XP_054236214.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X1

RNA

  1. XR_008489084.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q68CK6.2 GenPept UniProtKB/Swiss-Prot:Q68CK6

Gene LinkOut

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