ENSG00000205678
Homo sapiens | |
Features
| Gene ID: | ENSG00000205678 | | | | | Biological name : | TECRL | | | | | Synonyms : | Q5HYJ1 / TECRL / trans-2,3-enoyl-CoA reductase like | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 4 | | Strand: | -1 | | Band: | q13.1 | | Gene start: | 64275257 | | Gene end: | 64409468 | | | | | Corresponding Affymetrix probe sets: | 241961_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000423975
Ensembl peptide - ENSP00000426043
Ensembl peptide - ENSP00000370607
Ensembl peptide - ENSP00000422497
NCBI entrez gene - 253017
See in Manteia.
OMIM - 617242
RefSeq - XM_017007960
RefSeq - XM_005265662
RefSeq - XM_005265663
RefSeq - XM_005265664
RefSeq - XM_005265665
RefSeq - XM_017007959
RefSeq - NM_001010874
RefSeq Peptide - NP_001010874
swissprot - E9PD39
swissprot - H0Y9F0
swissprot - D6RBZ3
swissprot - Q5HYJ1
Ensembl - ENSG00000205678
| | | | | Related genetic diseases (OMIM): | 614021 - Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR001104 | 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001279 | Syncope | "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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| | HP:0001645 | Sudden cardiac death | |
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| | HP:0001699 | Sudden death | |
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| | HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| | HP:0004756 | Ventricular tachycardia | |
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Interacting proteins (from Reactome)
No match
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