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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	253017
Gene name Gene Name - the full gene name approved by the HGNC.	Trans-2,3-enoyl-CoA reductase like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TECRL
Synonyms (NCBI Gene) Gene synonyms aliases	CPVT3, GPSN2L, SRD5A2L2, TERL
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CPVT3
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q13.1
Summary Summary of gene provided in NCBI Entrez 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

Show/Hide all(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

Show/Hide all(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
MIRT515770	hsa-miR-4643	HITS-CLIP	21572407
MIRT508968	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT544026	hsa-miR-586	HITS-CLIP	21572407
MIRT508967	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT508966	hsa-miR-567	HITS-CLIP	21572407
MIRT508965	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT515768	hsa-miR-3941	HITS-CLIP	21572407
MIRT515767	hsa-miR-466	HITS-CLIP	21572407
MIRT515766	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT508964	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515765	hsa-miR-448	HITS-CLIP	21572407
MIRT508963	hsa-miR-297	HITS-CLIP	21572407
MIRT508962	hsa-miR-5010-3p	HITS-CLIP	21572407
MIRT515773	hsa-miR-8485	PAR-CLIP	21572407
MIRT515774	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT515772	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT515771	hsa-miR-603	PAR-CLIP	21572407
MIRT515769	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT515770	hsa-miR-4643	PAR-CLIP	21572407
MIRT508968	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT544026	hsa-miR-586	PAR-CLIP	21572407
MIRT508967	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT508966	hsa-miR-567	PAR-CLIP	21572407
MIRT508965	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515768	hsa-miR-3941	PAR-CLIP	21572407
MIRT515767	hsa-miR-466	PAR-CLIP	21572407
MIRT515766	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT508964	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515765	hsa-miR-448	PAR-CLIP	21572407
MIRT508963	hsa-miR-297	PAR-CLIP	21572407
MIRT508962	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT508968	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT544026	hsa-miR-586	PAR-CLIP	21572407
MIRT508967	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT508966	hsa-miR-567	PAR-CLIP	21572407
MIRT508965	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515766	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT508964	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515765	hsa-miR-448	PAR-CLIP	21572407
MIRT508963	hsa-miR-297	PAR-CLIP	21572407
MIRT508962	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT515773	hsa-miR-8485	PAR-CLIP	23446348
MIRT515774	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT515772	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT515771	hsa-miR-603	PAR-CLIP	23446348
MIRT515769	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT515770	hsa-miR-4643	PAR-CLIP	23446348
MIRT508968	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508967	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT508966	hsa-miR-567	PAR-CLIP	23446348
MIRT508965	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT515768	hsa-miR-3941	PAR-CLIP	23446348
MIRT515767	hsa-miR-466	PAR-CLIP	23446348
MIRT515766	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT508964	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515765	hsa-miR-448	PAR-CLIP	23446348
MIRT508963	hsa-miR-297	PAR-CLIP	23446348
MIRT508962	hsa-miR-5010-3p	PAR-CLIP	23446348
MIRT508968	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508967	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT508966	hsa-miR-567	PAR-CLIP	23446348
MIRT508965	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT508964	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508963	hsa-miR-297	PAR-CLIP	23446348
MIRT508962	hsa-miR-5010-3p	PAR-CLIP	23446348
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
MIRT515770	hsa-miR-4643	HITS-CLIP	21572407
MIRT508968	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT544026	hsa-miR-586	HITS-CLIP	21572407
MIRT508967	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT508966	hsa-miR-567	HITS-CLIP	21572407
MIRT508965	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT515768	hsa-miR-3941	HITS-CLIP	21572407
MIRT515767	hsa-miR-466	HITS-CLIP	21572407
MIRT515766	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT508964	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515765	hsa-miR-448	HITS-CLIP	21572407
MIRT508963	hsa-miR-297	HITS-CLIP	21572407
MIRT508962	hsa-miR-5010-3p	HITS-CLIP	21572407
MIRT515773	hsa-miR-8485	PAR-CLIP	21572407
MIRT515774	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT515772	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT515771	hsa-miR-603	PAR-CLIP	21572407
MIRT515769	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT515770	hsa-miR-4643	PAR-CLIP	21572407
MIRT508968	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT544026	hsa-miR-586	PAR-CLIP	21572407
MIRT508967	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT508966	hsa-miR-567	PAR-CLIP	21572407
MIRT508965	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515768	hsa-miR-3941	PAR-CLIP	21572407
MIRT515767	hsa-miR-466	PAR-CLIP	21572407
MIRT515766	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT508964	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515765	hsa-miR-448	PAR-CLIP	21572407
MIRT508963	hsa-miR-297	PAR-CLIP	21572407
MIRT508962	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT508968	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT544026	hsa-miR-586	PAR-CLIP	21572407
MIRT508967	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT508966	hsa-miR-567	PAR-CLIP	21572407
MIRT508965	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT515766	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT508964	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515765	hsa-miR-448	PAR-CLIP	21572407
MIRT508963	hsa-miR-297	PAR-CLIP	21572407
MIRT508962	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT515773	hsa-miR-8485	PAR-CLIP	23446348
MIRT515774	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT515772	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT515771	hsa-miR-603	PAR-CLIP	23446348
MIRT515769	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT515770	hsa-miR-4643	PAR-CLIP	23446348
MIRT508968	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508967	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT508966	hsa-miR-567	PAR-CLIP	23446348
MIRT508965	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT515768	hsa-miR-3941	PAR-CLIP	23446348
MIRT515767	hsa-miR-466	PAR-CLIP	23446348
MIRT515766	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT508964	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515765	hsa-miR-448	PAR-CLIP	23446348
MIRT508963	hsa-miR-297	PAR-CLIP	23446348
MIRT508962	hsa-miR-5010-3p	PAR-CLIP	23446348
MIRT508968	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508967	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT508966	hsa-miR-567	PAR-CLIP	23446348
MIRT508965	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT508964	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508963	hsa-miR-297	PAR-CLIP	23446348
MIRT508962	hsa-miR-5010-3p	PAR-CLIP	23446348
MIRT1417787	hsa-miR-122	CLIP-seq
MIRT1417788	hsa-miR-1273g	CLIP-seq
MIRT1417789	hsa-miR-1287	CLIP-seq
MIRT1417790	hsa-miR-1343	CLIP-seq
MIRT1417791	hsa-miR-140-3p	CLIP-seq
MIRT1417792	hsa-miR-153	CLIP-seq
MIRT1417793	hsa-miR-2052	CLIP-seq
MIRT1417794	hsa-miR-2054	CLIP-seq
MIRT1417795	hsa-miR-302f	CLIP-seq
MIRT1417796	hsa-miR-3135b	CLIP-seq
MIRT1417797	hsa-miR-3168	CLIP-seq
MIRT1417798	hsa-miR-33a	CLIP-seq
MIRT1417799	hsa-miR-33b	CLIP-seq
MIRT1417800	hsa-miR-3652	CLIP-seq
MIRT1417801	hsa-miR-3664-5p	CLIP-seq
MIRT1417802	hsa-miR-3672	CLIP-seq
MIRT1417803	hsa-miR-374a	CLIP-seq
MIRT1417804	hsa-miR-374b	CLIP-seq
MIRT1417805	hsa-miR-412	CLIP-seq
MIRT1417806	hsa-miR-4289	CLIP-seq
MIRT1417807	hsa-miR-4312	CLIP-seq
MIRT1417808	hsa-miR-4326	CLIP-seq
MIRT1417809	hsa-miR-4430	CLIP-seq
MIRT1417810	hsa-miR-4446-5p	CLIP-seq
MIRT1417811	hsa-miR-4639-3p	CLIP-seq
MIRT1417812	hsa-miR-4652-3p	CLIP-seq
MIRT1417813	hsa-miR-4729	CLIP-seq
MIRT1417814	hsa-miR-515-3p	CLIP-seq
MIRT1417815	hsa-miR-519e	CLIP-seq
MIRT1417816	hsa-miR-630	CLIP-seq
MIRT2125408	hsa-miR-1267	CLIP-seq
MIRT1417788	hsa-miR-1273g	CLIP-seq
MIRT1417793	hsa-miR-2052	CLIP-seq
MIRT1417798	hsa-miR-33a	CLIP-seq
MIRT1417799	hsa-miR-33b	CLIP-seq
MIRT1417801	hsa-miR-3664-5p	CLIP-seq
MIRT1417802	hsa-miR-3672	CLIP-seq
MIRT1417805	hsa-miR-412	CLIP-seq
MIRT1417806	hsa-miR-4289	CLIP-seq
MIRT1417810	hsa-miR-4446-5p	CLIP-seq
MIRT1417811	hsa-miR-4639-3p	CLIP-seq
MIRT1417812	hsa-miR-4652-3p	CLIP-seq
MIRT2347703	hsa-miR-1227	CLIP-seq
MIRT2125408	hsa-miR-1267	CLIP-seq
MIRT1417788	hsa-miR-1273g	CLIP-seq
MIRT2347704	hsa-miR-135a	CLIP-seq
MIRT2347705	hsa-miR-135b	CLIP-seq
MIRT1417791	hsa-miR-140-3p	CLIP-seq
MIRT2347706	hsa-miR-143	CLIP-seq
MIRT1417792	hsa-miR-153	CLIP-seq
MIRT2347707	hsa-miR-193a-3p	CLIP-seq
MIRT2347708	hsa-miR-193b	CLIP-seq
MIRT1417793	hsa-miR-2052	CLIP-seq
MIRT1417798	hsa-miR-33a	CLIP-seq
MIRT1417799	hsa-miR-33b	CLIP-seq
MIRT2347709	hsa-miR-3622b-5p	CLIP-seq
MIRT2347710	hsa-miR-3682-3p	CLIP-seq
MIRT1417806	hsa-miR-4289	CLIP-seq
MIRT2347711	hsa-miR-4328	CLIP-seq
MIRT2347712	hsa-miR-455-5p	CLIP-seq
MIRT1417812	hsa-miR-4652-3p	CLIP-seq
MIRT2347713	hsa-miR-4715-3p	CLIP-seq
MIRT2347714	hsa-miR-4720-5p	CLIP-seq
MIRT2347715	hsa-miR-4770	CLIP-seq
MIRT2347716	hsa-miR-4799-3p	CLIP-seq
MIRT2347717	hsa-miR-604	CLIP-seq
MIRT1417816	hsa-miR-630	CLIP-seq
MIRT2347718	hsa-miR-647	CLIP-seq
MIRT2347719	hsa-miR-892b	CLIP-seq
MIRT1417787	hsa-miR-122	CLIP-seq
MIRT2395646	hsa-miR-1224-3p	CLIP-seq
MIRT2395647	hsa-miR-1226	CLIP-seq
MIRT2395648	hsa-miR-1260	CLIP-seq
MIRT2395649	hsa-miR-1260b	CLIP-seq
MIRT2395650	hsa-miR-1280	CLIP-seq
MIRT2395651	hsa-miR-181a	CLIP-seq
MIRT2395652	hsa-miR-181b	CLIP-seq
MIRT2395653	hsa-miR-181c	CLIP-seq
MIRT2395654	hsa-miR-181d	CLIP-seq
MIRT2395655	hsa-miR-188-3p	CLIP-seq
MIRT2395656	hsa-miR-299-5p	CLIP-seq
MIRT1417796	hsa-miR-3135b	CLIP-seq
MIRT2395657	hsa-miR-3156-3p	CLIP-seq
MIRT1417800	hsa-miR-3652	CLIP-seq
MIRT2395658	hsa-miR-4262	CLIP-seq
MIRT1417809	hsa-miR-4430	CLIP-seq
MIRT2395659	hsa-miR-4530	CLIP-seq
MIRT2395660	hsa-miR-634	CLIP-seq
MIRT1417788	hsa-miR-1273g	CLIP-seq
MIRT1417793	hsa-miR-2052	CLIP-seq
MIRT1417798	hsa-miR-33a	CLIP-seq
MIRT1417799	hsa-miR-33b	CLIP-seq
MIRT1417806	hsa-miR-4289	CLIP-seq
MIRT1417791	hsa-miR-140-3p	CLIP-seq

Show/Hide all(5)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IDA	27861123
GO:0016021	Component	Integral component of membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IBA	21873635
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IBA	21873635

MIM	HGNC	e!Ensembl
617242	27365	ENSG00000205678

Protein

UniProt ID

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

	Reactome
			Synthesis of very long-chain fatty acyl-CoAs

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Catecholaminergic polymorphic ventricular tachycardia	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder), Catecholaminergic polymorphic ventricular tachycardia	rs121918597, rs121918598, rs121918599, rs121918600, rs121918601, rs121918602, rs121918603, rs121918604, rs121918605, rs121434549, rs786205106, rs121434550, rs267607276, rs267607277, rs397507555 View all (105 more)	27861123
Long qt syndrome	Long QT Syndrome	rs121434386, rs120074177, rs104894252, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074183, rs120074184, rs120074185, rs120074186, rs17215500, rs120074188 View all (552 more)
Ventricular tachycardia	Tachycardia, Ventricular, Familial ventricular tachycardia, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3	rs137853228, rs397517025, rs199473373, rs727504432, rs1450434935, rs1592847299	27861123

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Catecholaminergic Polymorphic Ventricular Tachycardia	catecholaminergic polymorphic ventricular tachycardia 3, catecholaminergic polymorphic ventricular tachycardia	GenCC
Psoriasis	Psoriasis	GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
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

TECRL (trans-2,3-enoyl-CoA reductase like)