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

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 4q13.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (64276298..64409460, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (67713307..67846464, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (65142016..65275178, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes.
Title: TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Catecholaminergic polymorphic ventricular tachycardia 3 MedGen: C3151463 OMIM: 614021 GeneReviews: Catecholaminergic Polymorphic Ventricular Tachycardia	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed
Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help

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)

Go to the top of the page Help

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

NG_053152.1 RefSeqGene

Range

5060..136808

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

64276298..64409460 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q6IN47