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

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; AllianceGenome:HGNC:32017
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: all
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Genomic context

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 (20451521..20487669)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (20382562..20418674)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (20462843..20498991)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Results report the first crystal structure of a medium-chain acyl-CoA synthetase ACSM2A, in a series of substrate/product/cofactor complexes central to the catalytic mechanism.
Title: Structural snapshots for the conformation-dependent catalysis by human medium-chain acyl-coenzyme A synthetase ACSM2A.

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
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93768 (e-PCR)
- UniSTS:90379

D1S1425 (e-PCR)
- UniSTS:149621

SHGC-61386 (e-PCR)
- UniSTS:42894

RH70323 (e-PCR)
- UniSTS:6316

SHGC-145832 (e-PCR)
- UniSTS:174824

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 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 medium-chain fatty acid-CoA ligase activity	IDA Inferred from Direct Assay 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
involved_in fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
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
located_in mitochondrion	HTP 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

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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

EC 6.2.1.2

EC 6.2.1.25

NP_001295101.1

EC 6.2.1.2

EC 6.2.1.25

NP_001295883.1

EC 6.2.1.2

EC 6.2.1.25

XP_016878412.1

EC 6.2.1.2

EC 6.2.1.25

XP_016878413.1

EC 6.2.1.2

EC 6.2.1.25

XP_016878414.1

EC 6.2.1.2

EC 6.2.1.25

XP_016878415.1

EC 6.2.1.2

EC 6.2.1.25

XP_047289547.1

EC 6.2.1.2

EC 6.2.1.25

XP_047289548.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235528.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235529.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235530.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235531.1

EC 6.2.1.2

EC 6.2.1.25

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

NG_054721.1 RefSeqGene

Range

5061..41209

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001308169.2 → NP_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:2 → 486

Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

cl17068
Location:1 → 489

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_001308172.2 → NP_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

B3KTT9, O75202, Q08AH3

UniProtKB/TrEMBL

A8K051

Related

ENSP00000459451.1, ENST00000573854.6

Conserved Domains (1) summary

cl17068
Location:40 → 568

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_001308954.2 → NP_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

B3KTT9, O75202, Q08AH3

UniProtKB/TrEMBL

A8K051

Related

ENSP00000460349.1, ENST00000575690.5

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

20451521..20487669

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022923.2 → XP_016878412.1 acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X1

UniProtKB/Swiss-Prot

B3KTT9, O75202, Q08AH3

UniProtKB/TrEMBL

A8K051

Conserved Domains (1) summary

cl17068
Location:40 → 568

AFD_class_I; Adenylate forming domain, Class I superfamily
XM_047433591.1 → XP_047289547.1 acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X1

UniProtKB/Swiss-Prot

B3KTT9, O75202, Q08AH3

Related

ENSP00000219054.6, ENST00000219054.10
XM_017022925.2 → XP_016878414.1 acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X3

UniProtKB/TrEMBL

B7Z8R0

Related

ENST00000575558.5
XM_017022924.3 → XP_016878413.1 acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X2
XM_047433592.1 → XP_047289548.1 acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X5
XM_017022926.3 → XP_016878415.1 acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X4

UniProtKB/TrEMBL

B3KP75

RNA

XR_001751833.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

20382562..20418674

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379553.1 → XP_054235528.1 acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X1
XM_054379554.1 → XP_054235529.1 acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X1
XM_054379555.1 → XP_054235530.1 acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X2
XM_054379556.1 → XP_054235531.1 acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X4

RNA

XR_008489053.1 RNA Sequence
XR_008489052.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001010845.2: Suppressed sequence

Description

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