Gene Gene information from NCBI Gene database.
Entrez ID 253017
Gene name Trans-2,3-enoyl-CoA reductase like
Gene symbol TECRL
Synonyms (NCBI Gene)
CPVT3GPSN2LSRD5A2L2TERL
Chromosome 4
Chromosome location 4q13.1
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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs773204795 C>T Pathogenic, likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs958406908 T>C,G Pathogenic Intron variant, genic downstream transcript variant
rs1057517699 C>T Pathogenic Splice donor variant, intron variant
miRNA miRNA information provided by mirtarbase database.
234
miRTarBase ID miRNA Experiments Reference
MIRT515773 hsa-miR-8485 HITS-CLIP 21572407
MIRT515774 hsa-miR-329-3p HITS-CLIP 21572407
MIRT515772 hsa-miR-362-3p HITS-CLIP 21572407
MIRT515771 hsa-miR-603 HITS-CLIP 21572407
MIRT515769 hsa-miR-4789-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA 27861123
GO:0005783 Component Endoplasmic reticulum IEA
GO:0006629 Process Lipid metabolic process IEA
GO:0006665 Process Sphingolipid metabolic process IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617242 27365 ENSG00000205678
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5HYJ1
Protein name Trans-2,3-enoyl-CoA reductase-like (EC 1.3.1.-) (Steroid 5-alpha-reductase 2-like 2 protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02544 Steroid_dh 210 363 3-oxo-5-alpha-steroid 4-dehydrogenase Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in the heart and skeletal muscle. {ECO:0000269|PubMed:27861123}.
Sequence
MFKRHKSLASERKRALLSQRATRFILKDDMRNFHFLSKLVLSAGPLRPTPAVKHSKTTHF
EIEIFDAQTRKQICILDKVTQSSTIHDVKQKFHKACPKWYPSRVGLQLECGGPFLKDYIT
IQSIAASSIVTLYATDLGQQVSWTTVFLAEYTGPLLIYLLFYLRIPCIYDGKESARRLRH
PVVHLACFCHCIHYIRYLLETLFVHKVSAGHTPLKNLIMSCAFYWGFTSWIAYYINHPLY
TPPSFGNRQITVSAINFLICEAGNHFINVMLSHPNHTGNNACFPSPNYNPFTWMFFLVSC
PNYTYEIGSWISFTVMTQTLPVGIFTLLMSIQMSLWAQKKHKIYLRKFNSYIHRKSAMIP
FIL
Sequence length 363
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of very long-chain fatty acyl-CoAs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
214
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiovascular phenotype Likely pathogenic; Pathogenic rs369606261, rs2476098813, rs539578837, rs2476067663, rs200472348, rs764174354, rs2476017155, rs767096918, rs2475860796, rs377068257, rs2476098889, rs1402891925, rs763631876, rs773204795 RCV002386520
RCV002333624
RCV002353445
RCV002353693
RCV002369261
RCV002421295
RCV002380356
RCV002381132
RCV002422103
RCV002419763
RCV004521022
RCV004521023
RCV004521030
RCV005627864
Catecholaminergic polymorphic ventricular tachycardia 3 Likely pathogenic; Pathogenic rs2109973501, rs539578837, rs200472348, rs2475720206, rs1171171393, rs1057517699, rs773204795, rs958406908 RCV001580151
RCV005370208
RCV004594641
RCV003148528
RCV004595260
RCV000412582
RCV000412644
RCV001005048
TECRL-related disorder Likely pathogenic; Pathogenic rs539578837 RCV003403799
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmias Cardiac Associate 27861123, 33367594
Death Sudden Associate 33367594
Death Sudden Cardiac Associate 27784710, 27861123
Heart Arrest Associate 27861123
Long QT Syndrome Associate 27861123, 33367594
Polymorphic catecholergic ventricular tachycardia Associate 27861123, 33367594, 34557911, 35679758
Tachycardia Ventricular Associate 27861123
Urinary Bladder Neoplasms Associate 38071230