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    TECRL trans-2,3-enoyl-CoA reductase like [ Homo sapiens (human) ]

    Gene ID: 253017, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TECRLprovided by HGNC
    Official Full Name
    trans-2,3-enoyl-CoA reductase likeprovided by HGNC
    Primary source
    HGNC:HGNC:27365
    See related
    Ensembl:ENSG00000205678 MIM:617242; AllianceGenome:HGNC:27365
    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
    TERL; CPVT3; GPSN2L; SRD5A2L2
    Summary
    The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3. [provided by RefSeq, Apr 2017]
    Expression
    Restricted expression toward heart (RPKM 117.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See TECRL in Genome Data Viewer
    Location:
    4q13.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (64276298..64409460, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (67713307..67846464, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (65142016..65275178, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377254 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:64849662-64850253 Neighboring gene NANOG hESC enhancer GRCh37_chr4:65022490-65023001 Neighboring gene uncharacterized LOC124900851 Neighboring gene RNA, U6 small nuclear 191, pseudogene Neighboring gene DPP3 pseudogene 1 Neighboring gene MT-CO3 pseudogene 27

    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. Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms. Moscu-Gregor A, et al. J Cardiovasc Electrophysiol, 2020 Jun. PMID 32173957
    2. A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family. Xie L, et al. Eur J Med Genet, 2019 Jul. PMID 30790670
    3. TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes. Hou C, et al. Commun Biol, 2022 May 16. PMID 35577932, Free PMC Article
    4. TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. Devalla HD, et al. EMBO Mol Med, 2016 Dec. PMID 27861123, Free PMC Article
    5. Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. Lee YC, et al. Nat Genet, 2012 Mar 25. PMID 22446961

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes.
      Title: TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes.
    2. Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.
      Title: Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.
    3. A compound heterozygosity in the Tecrl gene (Arg196Gln and c.918+3T > G splice site mutation) was identified in a patient with catecholaminergic polymorphic ventricular tachycardia.
      Title: A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.
    4. In summary, the authors report that mutations in TECRL are associated with inherited arrhythmias characterized by clinical features of both long QT syndrome and catecholaminergic polymorphic ventricular tachycardia.
      Title: TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
    EBI GWAS Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog
    Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC62104

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxidoreductase activity, acting on the CH-CH group of donors IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in very long-chain fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    trans-2,3-enoyl-CoA reductase-like
    Names
    glycoprotein, synaptic 2-like
    steroid 5 alpha-reductase 2-like 2
    steroid 5-alpha-reductase 2-like 2 protein

    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_053152.1 RefSeqGene

      Range
      5060..136808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001010874.5 → NP_001010874.2  trans-2,3-enoyl-CoA reductase-like isoform 1

      See identical proteins and their annotated locations for NP_001010874.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC023156, AL833108, BX647590
      Consensus CDS
      CCDS33990.1
      UniProtKB/Swiss-Prot
      Q5HYJ1
      Related
      ENSP00000370607.3, ENST00000381210.8
      Conserved Domains (2) summary
      cl00155
      Location:62 → 137
      UBQ; Ubiquitin-like proteins
      cl21511
      Location:212 → 363
      PEMT; Phospholipid methyltransferase

    2. NM_001363796.1 → NP_001350725.1  trans-2,3-enoyl-CoA reductase-like isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC023110, AC023156
      Consensus CDS
      CCDS87229.1
      UniProtKB/TrEMBL
      E9PD39
      Related
      ENSP00000426043.1, ENST00000507440.5
      Conserved Domains (1) summary
      PLN02560
      Location:79 → 322
      PLN02560; enoyl-CoA reductase

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      64276298..64409460 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453961.2 → XP_024309729.1  trans-2,3-enoyl-CoA reductase-like isoform X4

      Conserved Domains (1) summary
      PLN02560
      Location:79 → 307
      PLN02560; enoyl-CoA reductase

    2. XM_005265664.4 → XP_005265721.1  trans-2,3-enoyl-CoA reductase-like isoform X2

      Conserved Domains (2) summary
      PLN02560
      Location:79 → 307
      PLN02560; enoyl-CoA reductase
      cl00155
      Location:62 → 137
      UBQ; Ubiquitin-like proteins

    3. XM_024453962.2 → XP_024309730.1  trans-2,3-enoyl-CoA reductase-like isoform X5

      Conserved Domains (1) summary
      PLN02560
      Location:79 → 292
      PLN02560; enoyl-CoA reductase

    4. XM_005265662.6 → XP_005265719.1  trans-2,3-enoyl-CoA reductase-like isoform X1

      Conserved Domains (2) summary
      cl00155
      Location:62 → 122
      UBQ; Ubiquitin-like proteins
      cl21511
      Location:197 → 348
      PEMT; Phospholipid methyltransferase

    5. XM_005265665.5 → XP_005265722.1  trans-2,3-enoyl-CoA reductase-like isoform X3

      Conserved Domains (2) summary
      PLN02560
      Location:79 → 307
      PLN02560; enoyl-CoA reductase
      cl00155
      Location:62 → 137
      UBQ; Ubiquitin-like proteins

    6. XM_017007959.3 → XP_016863448.1  trans-2,3-enoyl-CoA reductase-like isoform X6

      UniProtKB/TrEMBL
      Q6IN47

    RNA

    1. XR_001741192.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      67713307..67846464 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349510.1 → XP_054205485.1  trans-2,3-enoyl-CoA reductase-like isoform X4

    2. XM_054349508.1 → XP_054205483.1  trans-2,3-enoyl-CoA reductase-like isoform X2

    3. XM_054349511.1 → XP_054205486.1  trans-2,3-enoyl-CoA reductase-like isoform X5

    4. XM_054349507.1 → XP_054205482.1  trans-2,3-enoyl-CoA reductase-like isoform X1

    5. XM_054349509.1 → XP_054205484.1  trans-2,3-enoyl-CoA reductase-like isoform X3

    6. XM_054349512.1 → XP_054205487.1  trans-2,3-enoyl-CoA reductase-like isoform X6

      UniProtKB/TrEMBL
      Q6IN47

    RNA

    1. XR_008486960.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5HYJ1.1 GenPept UniProtKB/Swiss-Prot:Q5HYJ1

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