Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9524
Gene name	Trans-2,3-enoyl-CoA reductase
Gene symbol	TECR
Synonyms (NCBI Gene)	GPSN2MRT14SC2TER
Chromosome	19
Chromosome location	19p13.12
Summary	This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This prote

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SNP ID	Visualize variation	Clinical significance	Consequence
rs199469705	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016309	hsa-miR-193b-3p	Proteomics	21512034
MIRT040058	hsa-miR-615-3p	CLASH	23622248
MIRT040058	hsa-miR-615-3p	CLASH	23622248
MIRT037695	hsa-miR-744-5p	CLASH	23622248
MIRT1417785	hsa-miR-3937	CLIP-seq
MIRT1417786	hsa-miR-486-3p	CLIP-seq
MIRT2125403	hsa-miR-3184	CLIP-seq
MIRT2125404	hsa-miR-423-5p	CLIP-seq
MIRT2125405	hsa-miR-4656	CLIP-seq
MIRT2125406	hsa-miR-4663	CLIP-seq
MIRT2125407	hsa-miR-4715-3p	CLIP-seq
MIRT2347688	hsa-miR-1287	CLIP-seq
MIRT2347689	hsa-miR-185	CLIP-seq
MIRT2347690	hsa-miR-296-5p	CLIP-seq
MIRT2347691	hsa-miR-3135b	CLIP-seq
MIRT2347692	hsa-miR-361-3p	CLIP-seq
MIRT2347693	hsa-miR-4265	CLIP-seq
MIRT2347694	hsa-miR-4286	CLIP-seq
MIRT2347695	hsa-miR-4296	CLIP-seq
MIRT2347696	hsa-miR-4306	CLIP-seq
MIRT2347697	hsa-miR-4322	CLIP-seq
MIRT2347698	hsa-miR-4417	CLIP-seq
MIRT2347699	hsa-miR-4497	CLIP-seq
MIRT2347700	hsa-miR-4644	CLIP-seq
MIRT2347701	hsa-miR-4758-3p	CLIP-seq
MIRT2347702	hsa-miR-483-3p	CLIP-seq
MIRT2640570	hsa-miR-1909	CLIP-seq
MIRT2640571	hsa-miR-214	CLIP-seq
MIRT2125403	hsa-miR-3184	CLIP-seq
MIRT2640572	hsa-miR-339-3p	CLIP-seq
MIRT2640573	hsa-miR-3619-5p	CLIP-seq
MIRT2125404	hsa-miR-423-5p	CLIP-seq
MIRT2640574	hsa-miR-4291	CLIP-seq
MIRT2125405	hsa-miR-4656	CLIP-seq
MIRT2125406	hsa-miR-4663	CLIP-seq
MIRT2125407	hsa-miR-4715-3p	CLIP-seq
MIRT2640575	hsa-miR-4792	CLIP-seq
MIRT2640576	hsa-miR-761	CLIP-seq
MIRT2640577	hsa-miR-922	CLIP-seq
MIRT2640570	hsa-miR-1909	CLIP-seq
MIRT2640571	hsa-miR-214	CLIP-seq
MIRT2125403	hsa-miR-3184	CLIP-seq
MIRT2640572	hsa-miR-339-3p	CLIP-seq
MIRT2640573	hsa-miR-3619-5p	CLIP-seq
MIRT2125404	hsa-miR-423-5p	CLIP-seq
MIRT2640574	hsa-miR-4291	CLIP-seq
MIRT2125405	hsa-miR-4656	CLIP-seq
MIRT2125406	hsa-miR-4663	CLIP-seq
MIRT2125407	hsa-miR-4715-3p	CLIP-seq
MIRT2640575	hsa-miR-4792	CLIP-seq
MIRT2640576	hsa-miR-761	CLIP-seq
MIRT2640577	hsa-miR-922	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 30021884, 32296183, 38422897
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	24220030
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12482854
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IBA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IMP	25049234
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0017099	Function	Very-long-chain fatty acyl-CoA dehydrogenase activity	TAS
GO:0030497	Process	Fatty acid elongation	IDA	12482854
GO:0035338	Process	Long-chain fatty-acyl-CoA biosynthetic process	TAS
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IBA
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IDA	12482854
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IMP	24220030
GO:0102758	Function	Very-long-chain enoyl-CoA reductase activity	IBA
GO:0102758	Function	Very-long-chain enoyl-CoA reductase activity	IDA	12482854
GO:0102758	Function	Very-long-chain enoyl-CoA reductase activity	IEA
GO:0102758	Function	Very-long-chain enoyl-CoA reductase activity	IMP	24220030

MIM	HGNC	e!Ensembl
610057	4551	ENSG00000099797

Q9NZ01

Protein name

Very-long-chain enoyl-CoA reductase (EC 1.3.1.93) (Synaptic glycoprotein SC2) (Trans-2,3-enoyl-CoA reductase) (TER)

Protein function

Involved in both the production of very long-chain fatty acids for sphingolipid synthesis and the degradation of the sphingosine moiety in sphingolipids through the sphingosine 1-phosphate metabolic pathway (PubMed:25049234). Catalyzes the last

PDB

2DZJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02544	Steroid_dh	154 → 308	3-oxo-5-alpha-steroid 4-dehydrogenase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in most tissues tested. Highly expressed in skeletal muscle. {ECO:0000269|PubMed:12482854}.

Sequence

MKHYEVEILDAKTREKLCFLDKVEPHATIAEIKNLFTKTHPQWYPARQSLRLDPKGKSLK
DEDVLQKLPVGTTATLYFRDLGAQISWVTVFLTEYAGPLFIYLLFYFRVPFIYGHKYDFT
SSRHTVVHLACICHSFHYIKRLLETLFVHRFSHGTMPLRNIFKNCTYYWGFAAWMAYYIN
HPLYTPPTYGAQQVKLALAIFVICQLGNFSIHMALRDLRPAGSKTRKIPYPTKNPFTWLF
LLVSCPNYTYEVGSWIGFAIMTQCLPVALFSLVGFTQMTIWAKGKHRSYLKEFRDYPPLR
MPIIPFLL

Sequence length

308

Interactions

View interactions

	KEGG		Reactome
	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism		Synthesis of very long-chain fatty acyl-CoAs

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 14	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal recessive 14	Uncertain significance; Benign; Likely benign; no classifications from unflagged records	ClinVar ClinVar, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TECR-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35779418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	17381549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30457394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	2521249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	31246487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21212097, 22419660, 24220030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	21212097, 22419660	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	21212097, 24220030		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14	Mental retardation	UNIPROT_DG	21212097, 24220030		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35779418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	40016701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	1645569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TECR (trans-2,3-enoyl-CoA reductase)