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Aliases for TECRL Gene

Aliases for TECRL Gene

  • Trans-2,3-Enoyl-CoA Reductase Like 2 3 5
  • Steroid 5-Alpha-Reductase 2-Like 2 Protein 3 4
  • Glycoprotein, Synaptic 2-Like 2 3
  • SRD5A2L2 3 4
  • Steroid 5 Alpha-Reductase 2-Like 2 3
  • Trans-2,3-Enoyl-CoA Reductase-Like 3
  • EC 1.3.1.- 4
  • GPSN2L 3
  • CPVT3 3
  • TERL 3

External Ids for TECRL Gene

Previous GeneCards Identifiers for TECRL Gene

  • GC04M064827
  • GC04M065143
  • GC04M061053

Summaries for TECRL Gene

Entrez Gene Summary for TECRL Gene

  • 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]

GeneCards Summary for TECRL Gene

TECRL (Trans-2,3-Enoyl-CoA Reductase Like) is a Protein Coding gene. Diseases associated with TECRL include Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 and Catecholaminergic Polymorphic Ventricular Tachycardia. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include oxidoreductase activity, acting on the CH-CH group of donors. An important paralog of this gene is TECR.

Additional gene information for TECRL Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TECRL Gene

Genomics for TECRL Gene

Genomic Location for TECRL Gene

Chromosome:
4
Start:
64,275,257 bp from pter
End:
64,409,494 bp from pter
Size:
134,238 bases
Orientation:
Minus strand

Genomic View for TECRL Gene

Genes around TECRL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TECRL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TECRL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TECRL Gene

No data available for Regulatory Elements for TECRL Gene

Proteins for TECRL Gene

  • Protein details for TECRL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5HYJ1-TECRL_HUMAN
    Recommended name:
    Trans-2,3-enoyl-CoA reductase-like
    Protein Accession:
    Q5HYJ1

    Protein attributes for TECRL Gene

    Size:
    363 amino acids
    Molecular mass:
    42009 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TECRL Gene

Post-translational modifications for TECRL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TECRL Gene

Domains & Families for TECRL Gene

Gene Families for TECRL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TECRL Gene

Suggested Antigen Peptide Sequences for TECRL Gene

Graphical View of Domain Structure for InterPro Entry

Q5HYJ1

UniProtKB/Swiss-Prot:

TECRL_HUMAN :
  • Belongs to the steroid 5-alpha reductase family.
Family:
  • Belongs to the steroid 5-alpha reductase family.
genes like me logo Genes that share domains with TECRL: view

Function for TECRL Gene

Enzyme Numbers (IUBMB) for TECRL Gene

Phenotypes From GWAS Catalog for TECRL Gene

Gene Ontology (GO) - Molecular Function for TECRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IBA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
genes like me logo Genes that share ontologies with TECRL: view

Phenotypes for TECRL Gene

GenomeRNAi human phenotypes for TECRL:
genes like me logo Genes that share phenotypes with TECRL: view

Human Phenotype Ontology for TECRL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TECRL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Animal Models , Transcription Factor Targets and HOMER Transcription for TECRL Gene

Localization for TECRL Gene

Subcellular locations from UniProtKB/Swiss-Prot for TECRL Gene

Membrane; Multi-pass membrane protein. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TECRL gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 3
cytosol 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TECRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 27861123
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TECRL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TECRL Gene

Pathways & Interactions for TECRL Gene

genes like me logo Genes that share pathways with TECRL: view

Interacting Proteins for TECRL Gene

Gene Ontology (GO) - Biological Process for TECRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0042761 very long-chain fatty acid biosynthetic process IBA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with TECRL: view

No data available for SIGNOR curated interactions for TECRL Gene

Drugs & Compounds for TECRL Gene

No Compound Related Data Available

Transcripts for TECRL Gene

mRNA/cDNA for TECRL Gene

Unigene Clusters for TECRL Gene

Trans-2,3-enoyl-CoA reductase-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TECRL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TECRL Gene

No ASD Table

Relevant External Links for TECRL Gene

GeneLoc Exon Structure for
TECRL
ECgene alternative splicing isoforms for
TECRL

Expression for TECRL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TECRL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TECRL Gene

This gene is overexpressed in Heart - Left Ventricle (x32.1) and Heart - Atrial Appendage (x17.9).

Protein differential expression in normal tissues from HIPED for TECRL Gene

This gene is overexpressed in Heart (63.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TECRL Gene



Protein tissue co-expression partners for TECRL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TECRL Gene:

TECRL

SOURCE GeneReport for Unigene cluster for TECRL Gene:

Hs.227752

mRNA Expression by UniProt/SwissProt for TECRL Gene:

Q5HYJ1-TECRL_HUMAN
Tissue specificity: Predominantly expressed in the heart and skeletal muscle.

Evidence on tissue expression from TISSUES for TECRL Gene

  • Heart(4.5)
  • Muscle(2.7)
genes like me logo Genes that share expression patterns with TECRL: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TECRL Gene

Orthologs for TECRL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TECRL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TECRL 33 34
  • 99.63 (n)
cow
(Bos Taurus)
Mammalia TECRL 33 34
  • 90.27 (n)
dog
(Canis familiaris)
Mammalia TECRL 33 34
  • 88.71 (n)
rat
(Rattus norvegicus)
Mammalia Tecrl 33
  • 85.04 (n)
mouse
(Mus musculus)
Mammalia Tecrl 33 16 34
  • 84.49 (n)
oppossum
(Monodelphis domestica)
Mammalia TECRL 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TECRL 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves TECRL 33 34
  • 73.66 (n)
lizard
(Anolis carolinensis)
Reptilia TECRL 34
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tecrl2 34
  • 42 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Sc2 34
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea art-1 34
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TSC13 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7956 34
  • 46 (a)
OneToMany
Species where no ortholog for TECRL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TECRL Gene

ENSEMBL:
Gene Tree for TECRL (if available)
TreeFam:
Gene Tree for TECRL (if available)

Paralogs for TECRL Gene

Paralogs for TECRL Gene

(2) SIMAP similar genes for TECRL Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TECRL: view

Variants for TECRL Gene

Sequence variations from dbSNP and Humsavar for TECRL Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs773204795 Pathogenic, Ventricular tachycardia, catecholaminergic polymorphic, 3 (CPVT3) [MIM:614021] 64,309,896(+) GGTAT(C/T)GGATG nc-transcript-variant, reference, missense
rs1057517699 Pathogenic 64,328,511(-) ATGTG(A/G)TAAGA intron-variant, splice-donor-variant
rs10000515 -- 64,398,932(+) acttt(A/G/T)ctata intron-variant
rs10000773 -- 64,281,260(+) CTCAT(A/T)AAATG intron-variant
rs1000078263 -- 64,378,002(+) AATTT(G/T)TCACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TECRL Gene

Variant ID Type Subtype PubMed ID
esv1348338 CNV insertion 17803354
esv2727728 CNV deletion 23290073
esv3563977 CNV deletion 23714750
esv3600760 CNV loss 21293372
esv3600761 CNV gain 21293372
esv3600764 CNV loss 21293372
nsv1012062 CNV loss 25217958
nsv1117387 CNV tandem duplication 24896259
nsv1150706 CNV deletion 26484159
nsv291771 CNV deletion 16902084
nsv292154 CNV deletion 16902084
nsv461389 CNV gain 19166990
nsv507171 OTHER sequence alteration 20534489
nsv509904 OTHER sequence alteration 20534489
nsv594372 CNV loss 21841781
nsv594411 CNV gain 21841781
nsv594472 CNV gain 21841781
nsv594473 CNV loss 21841781
nsv998669 CNV loss 25217958

Variation tolerance for TECRL Gene

Residual Variation Intolerance Score: 58.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.09; 61.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TECRL Gene

Human Gene Mutation Database (HGMD)
TECRL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TECRL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TECRL Gene

Disorders for TECRL Gene

MalaCards: The human disease database

(3) MalaCards diseases for TECRL Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ventricular tachycardia, catecholaminergic polymorphic, 3
  • catecholaminergic polymorphic ventricular tachycardia 3
catecholaminergic polymorphic ventricular tachycardia
  • ventricular tachycardia, catecholaminergic polymorphic, 1
cardiac arrest
  • cardiopulmonary arrest
- elite association - COSMIC cancer census association via MalaCards
Search TECRL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TECRL_HUMAN
  • Ventricular tachycardia, catecholaminergic polymorphic, 3 (CPVT3) [MIM:614021]: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. CPVT3 is an autosomal recessive disorder with onset at early age and associated with sudden death in childhood. Patients manifest QT prolongation on adrenergic stimulation. {ECO:0000269 PubMed:27861123}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TECRL

Genetic Association Database (GAD)
TECRL
Human Genome Epidemiology (HuGE) Navigator
TECRL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TECRL
genes like me logo Genes that share disorders with TECRL: view

No data available for Genatlas for TECRL Gene

Publications for TECRL Gene

  1. TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. (PMID: 27861123) Devalla HD … Passier R (EMBO molecular medicine 2016) 2 3 4 60
  2. Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. (PMID: 22446961) Lee YC … Wu JY (Nature genetics 2012) 3 45 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  5. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas. (PMID: 25787250) Cromer MK … Lifton RP (Proceedings of the National Academy of Sciences of the United States of America 2015) 4 60

Products for TECRL Gene

Sources for TECRL Gene

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