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ACSM2A acyl-CoA synthetase medium chain family member 2A [ Homo sapiens (human) ]

Gene ID: 123876, updated on 23-Nov-2021

Summary

Official Symbol
ACSM2Aprovided by HGNC
Official Full Name
acyl-CoA synthetase medium chain family member 2Aprovided by HGNC
Primary source
HGNC:HGNC:32017
See related
Ensembl:ENSG00000183747 MIM:614358
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACSM2; A-923A4.1
Summary
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]
Expression
Restricted expression toward kidney (RPKM 83.2) See more
Orthologs
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Genomic context

See ACSM2A in Genome Data Viewer
Location:
16p12.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (20451504..20487669)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20462843..20498991)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene acyl-CoA synthetase medium chain family member 5 Neighboring gene uncharacterized LOC105371119 Neighboring gene acyl-CoA synthetase medium chain family member 2B Neighboring gene uncharacterized LOC105371120

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34659, MGC150530

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables benzoate-CoA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables butyrate-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
PubMed 
enables fatty-acyl-CoA synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in acyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in glucose homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in medium-chain fatty-acyl-CoA metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in triglyceride homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
acyl-coenzyme A synthetase ACSM2A, mitochondrial
Names
acyl-CoA synthetase medium-chain family member 2
benzoate--CoA ligase
butyrate--CoA ligase 2A
butyryl-coenzyme A synthetase 2A
middle-chain acyl-CoA synthetase 2A
NP_001295098.1
NP_001295101.1
NP_001295883.1
XP_016878412.1
XP_016878413.1
XP_016878414.1
XP_016878415.1

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.

Genomic

  1. NG_054721.1 RefSeqGene

    Range
    5061..41209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308169.2NP_001295098.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' UTR and coding region which results in the use of a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC137056, AI075158, AK298359, DC361518
    Consensus CDS
    CCDS76838.1
    UniProtKB/TrEMBL
    B7Z530, F5GWL3
    Related
    ENSP00000392169.2, ENST00000417235.6
    Conserved Domains (2) summary
    COG0365
    Location:2486
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:1489
    AFD_class_I; Adenylate forming domain, Class I superfamily
  2. NM_001308172.2NP_001295101.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_001295101.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 encode the same isoform (1)
    Source sequence(s)
    AC137056, AI075158, BC125176
    Consensus CDS
    CCDS32401.1
    UniProtKB/Swiss-Prot
    Q08AH3
    Related
    ENSP00000459451.1, ENST00000573854.6
    Conserved Domains (1) summary
    cl17068
    Location:40568
    AFD_class_I; Adenylate forming domain, Class I superfamily
  3. NM_001308954.2NP_001295883.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_001295883.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    AC137056, AI075158, AK096039
    Consensus CDS
    CCDS32401.1
    UniProtKB/Swiss-Prot
    Q08AH3
    Related
    ENSP00000460349.1, ENST00000575690.5
    Conserved Domains (1) summary
    cl17068
    Location:40568
    AFD_class_I; Adenylate forming domain, Class I superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    20451504..20487669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022925.1XP_016878414.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X3

    Related
    ENST00000575558.5
  2. XM_017022923.1XP_016878412.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q08AH3
    Related
    ENSP00000219054.6, ENST00000219054.10
    Conserved Domains (1) summary
    cl17068
    Location:40568
    AFD_class_I; Adenylate forming domain, Class I superfamily
  3. XM_017022924.2XP_016878413.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X2

  4. XM_017022926.2XP_016878415.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X4

RNA

  1. XR_001751834.2 RNA Sequence

  2. XR_001751833.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001010845.2: Suppressed sequence

    Description
    NM_001010845.2: This RefSeq was removed because currently there is insufficient support for the transcript.
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