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

Gene ID: 253017, updated on 2-Nov-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
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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 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)

Genotypes

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

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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