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    HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 [ Homo sapiens (human) ]

    Gene ID: 3158, updated on 10-Dec-2024

    Summary

    Official Symbol
    HMGCS2provided by HGNC
    Official Full Name
    3-hydroxy-3-methylglutaryl-CoA synthase 2provided by HGNC
    Primary source
    HGNC:HGNC:5008
    See related
    Ensembl:ENSG00000134240 MIM:600234; AllianceGenome:HGNC:5008
    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
    Summary
    The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
    Expression
    Biased expression in liver (RPKM 471.6), colon (RPKM 127.8) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HMGCS2 in Genome Data Viewer
    Location:
    1p12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (119747996..119768932, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (119761239..119782165, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (120290619..120311555, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378937 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:120230232-120230835 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:120254349-120254878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1248 Neighboring gene phosphoglycerate dehydrogenase Neighboring gene Sharpr-MPRA regulatory region 1341 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:120323715-120323913 Neighboring gene regenerating family member 4 Neighboring gene MPRA-validated peak397 silencer Neighboring gene NBPF member 7, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 31
    Process Evidence Code Pubs
    involved_in acetyl-CoA metabolic process  
    involved_in acetyl-CoA metabolic process PubMed 
    involved_in adipose tissue development  
    involved_in cellular response to amino acid stimulus  
    involved_in cellular response to fatty acid  
    involved_in cellular response to glucocorticoid stimulus  
    involved_in cellular response to insulin stimulus  
    involved_in cellular response to lipopolysaccharide  
    involved_in cholesterol biosynthetic process  
    involved_in farnesyl diphosphate biosynthetic process, mevalonate pathway  
    involved_in ketone body biosynthetic process PubMed 
    involved_in ketone body biosynthetic process  
    involved_in kidney development  
    involved_in liver development  
    involved_in lung development  
    involved_in midgut development  
    involved_in multicellular organismal response to stress  
    involved_in response to cAMP  
    involved_in response to ethanol  
    involved_in response to glucagon  
    involved_in response to growth hormone  
    involved_in response to linoleic acid  
    involved_in response to metal ion  
    involved_in response to monosaccharide  
    involved_in response to nutrient  
    involved_in response to prostaglandin F  
    involved_in response to starvation  
    involved_in response to temperature stimulus  
    involved_in response to testosterone  
    involved_in response to triglyceride  
    involved_in response to xenobiotic stimulus  
    Items 1 - 25 of 31
    Component Evidence Code Pubs
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 
    is_active_in mitochondrion  
    located_in mitochondrion  

    General protein information

    Preferred Names
    hydroxymethylglutaryl-CoA synthase, mitochondrial
    Names
    3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
    3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)
    HMG-CoA synthase
    testicular tissue protein Li 88
    NP_001159579.1
    NP_005509.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_013348.1 RefSeqGene

      Range
      5001..25937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_447

    mRNA and Protein(s)

    1. NM_001166107.1 → NP_001159579.1  hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001159579.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1. This results in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AI215948, AK303777, BC044217, BP420631, BX104280
      Consensus CDS
      CCDS53353.1
      UniProtKB/Swiss-Prot
      P54868
      Related
      ENSP00000439495.2, ENST00000544913.2
      Conserved Domains (3) summary
      TIGR01833
      Location:50 → 464
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
      pfam08540
      Location:187 → 464
      HMG_CoA_synt_C; Hydroxymethylglutaryl-coenzyme A synthase C terminal
      cl09938
      Location:53 → 187
      cond_enzymes; Condensing enzymes; Family of enzymes that catalyze a (decarboxylating or non-decarboxylating) Claisen-like condensation reaction. Members are share strong structural similarity, and are involved in the synthesis and degradation of fatty acids, and the ...
    2. NM_005518.4 → NP_005509.1  hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_005509.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI215948, BC044217, BP420631, BX104280
      Consensus CDS
      CCDS905.1
      UniProtKB/Swiss-Prot
      B7Z8R3, D3Y5K6, P54868, Q5SZU2, Q6IBF4
      UniProtKB/TrEMBL
      A0A140VJL2
      Related
      ENSP00000358414.3, ENST00000369406.8
      Conserved Domains (1) summary
      TIGR01833
      Location:50 → 506
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      119747996..119768932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      119761239..119782165 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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