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    ACSF2 acyl-CoA synthetase family member 2 [ Homo sapiens (human) ]

    Gene ID: 80221, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ACSF2provided by HGNC
    Official Full Name
    acyl-CoA synthetase family member 2provided by HGNC
    Primary source
    HGNC:HGNC:26101
    See related
    Ensembl:ENSG00000167107 MIM:610465; AllianceGenome:HGNC:26101
    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
    ACSMW; AVYV493
    Summary
    Enables medium-chain fatty acid-CoA ligase activity. Predicted to be involved in fatty acid metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in kidney (RPKM 73.1), thyroid (RPKM 24.6) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACSF2 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50426218..50474845)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51293210..51341845)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48503579..48552206)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48448134-48448295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12383 Neighboring gene mitochondrial ribosomal protein L27 Neighboring gene essential meiotic structure-specific endonuclease 1 Neighboring gene leucine rich repeat containing 59 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8697 Neighboring gene Sharpr-MPRA regulatory region 13074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48503111-48503655 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:48508611-48509306 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48545198-48546156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48546157-48547114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8699 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48557048-48557434 Neighboring gene chondroadherin Neighboring gene Sharpr-MPRA regulatory region 9450 Neighboring gene radical S-adenosyl methionine domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8701 Neighboring gene MYCBP associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8702

    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 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. Identification of novel PPARgamma target genes in primary human adipocytes. Perera RJ, et al. Gene, 2006 Mar 15. PMID 16380219
    2. ACSF2 and lysine lactylation contribute to renal tubule injury in diabetes. Chen J, et al. Diabetologia, 2024 Jul. PMID 38676722
    3. USP40 deubiquitinates HINT1 and stabilizes p53 in podocyte damage. Takahashi S, et al. Biochem Biophys Res Commun, 2022 Jul 23. PMID 35605301
    4. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. Watkins PA, et al. J Lipid Res, 2007 Dec. PMID 17762044
    5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ACSF2 and lysine lactylation contribute to renal tubule injury in diabetes.
      Title: ACSF2 and lysine lactylation contribute to renal tubule injury in diabetes.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • FLJ20920

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables long-chain fatty acid-CoA ligase activity TAS
    Traceable Author Statement
    more info
    		  
    enables medium-chain fatty acid-CoA ligase 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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acyl-CoA metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in long-chain fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    medium-chain acyl-CoA ligase ACSF2, mitochondrial
    Names
    PPARG binding, long chain fatty acid acyl Co-A ligase like
    acyl-CoA synthetase family member 2, mitochondrial
    NP_001275897.1
    NP_001275898.1
    NP_001275899.1
    NP_001275900.1
    NP_001275901.1
    NP_079425.3
    XP_006722173.1
    XP_011523596.1
    XP_054173377.1
    XP_054173378.1

    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_001288968.2 → NP_001275897.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_001275897.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK294205, AK300625
      Consensus CDS
      CCDS74103.1
      UniProtKB/TrEMBL
      B4DTB9
      Related
      ENSP00000401831.2, ENST00000427954.6
      Conserved Domains (1) summary
      PRK08315
      Location:82 → 640
      PRK08315; AMP-binding domain protein; Validated

    2. NM_001288969.2 → NP_001275898.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_001275898.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, and uses two alternate in-frame splice sites in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AK294205, AK295258, AK300625
      Consensus CDS
      CCDS74104.1
      UniProtKB/TrEMBL
      B4DTB9
      Related
      ENSP00000421884.1, ENST00000502667.5
      Conserved Domains (1) summary
      PRK08315
      Location:57 → 602
      PRK08315; AMP-binding domain protein; Validated

    3. NM_001288970.2 → NP_001275899.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two in-frame exons in the 5' and central coding regions, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
      Source sequence(s)
      AK294205, AK300145, AK300625
      Consensus CDS
      CCDS74105.1
      UniProtKB/TrEMBL
      B4DTB9, E9PF16
      Related
      ENSP00000425964.1, ENST00000504392.5
      Conserved Domains (1) summary
      PRK08315
      Location:57 → 572
      PRK08315; AMP-binding domain protein; Validated

    4. NM_001288971.2 → NP_001275900.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 5

      See identical proteins and their annotated locations for NP_001275900.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform.
      Source sequence(s)
      AK294205, AK300625
      UniProtKB/Swiss-Prot
      Q96CM8
      Conserved Domains (1) summary
      PRK08315
      Location:2 → 455
      PRK08315; AMP-binding domain protein; Validated

    5. NM_001288972.2 → NP_001275901.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 5

      See identical proteins and their annotated locations for NP_001275901.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform.
      Source sequence(s)
      AK308584, AY358660, DC296100
      UniProtKB/Swiss-Prot
      Q96CM8
      Conserved Domains (1) summary
      PRK08315
      Location:2 → 455
      PRK08315; AMP-binding domain protein; Validated

    6. NM_025149.6 → NP_079425.3  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_079425.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AK300625, AK308584, AY358660
      Consensus CDS
      CCDS11567.1
      UniProtKB/Swiss-Prot
      B4DFQ6, B4DHT5, B4DUF5, Q96CM8, Q9H7G2
      UniProtKB/TrEMBL
      B4DTB9
      Related
      ENSP00000300441.4, ENST00000300441.9
      Conserved Domains (1) summary
      PRK08315
      Location:57 → 615
      PRK08315; AMP-binding domain protein; Validated

    RNA

    1. NR_110232.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK308584, AK311109
      Related
      ENST00000506085.5

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50426218..50474845
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525294.3 → XP_011523596.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform X1

      UniProtKB/TrEMBL
      B4DTB9
      Conserved Domains (1) summary
      PRK08315
      Location:57 → 609
      PRK08315; AMP-binding domain protein; Validated

    2. XM_006722110.5 → XP_006722173.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform X2

      Conserved Domains (1) summary
      PRK08315
      Location:57 → 441
      PRK08315; AMP-binding domain protein; Validated

    RNA

    1. XR_007065473.1 RNA Sequence

    2. XR_007065474.1 RNA Sequence

    3. XR_934566.4 RNA Sequence

    4. XR_934563.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51293210..51341845
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317402.1 → XP_054173377.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform X1

    2. XM_054317403.1 → XP_054173378.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform X2

    RNA

    1. XR_008484943.1 RNA Sequence

    2. XR_008484945.1 RNA Sequence

    3. XR_008484946.1 RNA Sequence

    4. XR_008484944.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CM8.2 GenPept UniProtKB/Swiss-Prot:Q96CM8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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