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.	1717
Gene name Gene Name - the full gene name approved by the HGNC.	7-dehydrocholesterol reductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DHCR7
Synonyms (NCBI Gene) Gene synonyms aliases	SLOS
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q13.4
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic re

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SNP ID	Visualize variation	Clinical significance	Consequence
rs949177	A>C,G,T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs11555217	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, stop gained, coding sequence variant
rs28938174	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs61757582	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs72954276	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs74909468	G>A	Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs80338853	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338855	G>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs80338856	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338857	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338858	G>A,C	Likely-benign, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs80338859	C>A	Pathogenic	Missense variant, coding sequence variant
rs80338860	G>A	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs80338862	C>G,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs80338863	C>G,T	Pathogenic	Splice acceptor variant
rs80338864	C>G,T	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs104886033	T>C,G	Pathogenic, pathogenic-likely-pathogenic	Missense variant, initiator codon variant
rs104886035	G>A	Pathogenic	Missense variant, coding sequence variant
rs104886039	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs104886040	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs104886041	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs104894212	C>A	Pathogenic	Missense variant, coding sequence variant
rs104894213	C>T	Pathogenic	Coding sequence variant, stop gained
rs121909764	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909765	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121909766	T>C	Pathogenic	Coding sequence variant, missense variant
rs121909767	C>T	Likely-pathogenic	Initiator codon variant, missense variant
rs121909768	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912195	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs138659167	C>A,G	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, splice acceptor variant, missense variant
rs139721775	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant, missense variant, 3 prime UTR variant
rs140648594	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs140791666	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, 3 prime UTR variant
rs142808899	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs143312232	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs144562471	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, 3 prime UTR variant
rs145084285	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs145284180	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147038941	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147424205	G>A	Benign-likely-benign, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs147850435	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, synonymous variant, coding sequence variant
rs148468879	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Stop gained, synonymous variant, coding sequence variant
rs149974099	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150603941	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs184297154	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs200334114	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201270451	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs369654651	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371302153	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs372886043	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs373306653	A>G	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs398123607	C>T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs535561852	G>A	Likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs557097410	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, 3 prime UTR variant, coding sequence variant
rs565893436	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs567600444	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs745498103	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs745595242	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs746482788	TACCTGCAGGAGTCACGGCCCCCTCCTGGATGC>-	Pathogenic, likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs747827699	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs749076525	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs750345068	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs751604696	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs753960624	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs755941916	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs756564881	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs759720450	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs760428437	C>T	Pathogenic, pathogenic-likely-pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs766495775	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs769639753	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs770819693	T>A	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs773134475	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs774187452	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs774291653	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs775034584	A>G,T	Likely-pathogenic	3 prime UTR variant, terminator codon variant, stop lost
rs775575609	T>C	Likely-pathogenic	Splice acceptor variant
rs777425801	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs777517985	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs779709646	C>A,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs779896782	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs781026169	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs781687341	C>A,G,T	Pathogenic-likely-pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant
rs786200926	T>A,C	Pathogenic, uncertain-significance	Intron variant
rs886041354	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886042362	G>-	Uncertain-significance, likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1032242817	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1046560765	A>G	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1057516375	G>T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1057516493	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1057516517	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516610	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant, synonymous variant
rs1057516618	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516783	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516920	A>T	Likely-pathogenic	Splice donor variant
rs1057516973	C>A	Likely-pathogenic	Splice donor variant
rs1057516977	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517070	A>C	Likely-pathogenic	Splice donor variant
rs1057517210	C>T	Likely-pathogenic	Splice acceptor variant
rs1057517307	C>T	Likely-pathogenic	Splice acceptor variant
rs1085307925	T>C	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1085307926	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1173707321	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs1318653026	->GT	Pathogenic	Coding sequence variant, frameshift variant
rs1331331095	A>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs1393186135	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1451108193	C>G	Likely-pathogenic	Splice acceptor variant
rs1469918162	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1471145742	C>A,G	Likely-pathogenic	Splice donor variant
rs1555145605	G>T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1555145646	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555145859	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555145862	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555145867	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1555145874	G>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1555145877	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555146023	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555146618	T>C	Likely-pathogenic	Splice acceptor variant
rs1565586067	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1591107040	GC>CA	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs1591107062	CTC>G	Likely-pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant
rs1591107421	C>T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1591109892	C>T	Pathogenic	Coding sequence variant, stop gained
rs1591111319	->A	Pathogenic	Splice donor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016653	hsa-miR-425-5p	Sequencing	20371350
MIRT016982	hsa-miR-335-5p	Microarray	18185580
MIRT025254	hsa-miR-34a-5p	Proteomics	21566225
MIRT052760	hsa-miR-1260b	CLASH	23622248
MIRT543741	hsa-miR-451b	PAR-CLIP	21572407
MIRT543740	hsa-miR-6853-5p	PAR-CLIP	21572407
MIRT543739	hsa-miR-7-5p	PAR-CLIP	21572407
MIRT543738	hsa-miR-4747-5p	PAR-CLIP	21572407
MIRT543737	hsa-miR-5196-5p	PAR-CLIP	21572407
MIRT543736	hsa-miR-1268a	PAR-CLIP	21572407
MIRT543735	hsa-miR-1268b	PAR-CLIP	21572407
MIRT543734	hsa-miR-4766-3p	PAR-CLIP	21572407
MIRT543733	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT543732	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT440822	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440822	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT543741	hsa-miR-451b	PAR-CLIP	21572407
MIRT543740	hsa-miR-6853-5p	PAR-CLIP	21572407
MIRT543739	hsa-miR-7-5p	PAR-CLIP	21572407
MIRT543738	hsa-miR-4747-5p	PAR-CLIP	21572407
MIRT543737	hsa-miR-5196-5p	PAR-CLIP	21572407
MIRT543736	hsa-miR-1268a	PAR-CLIP	21572407
MIRT543735	hsa-miR-1268b	PAR-CLIP	21572407
MIRT543734	hsa-miR-4766-3p	PAR-CLIP	21572407
MIRT543733	hsa-miR-7156-3p	PAR-CLIP	21572407
MIRT543732	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT934498	hsa-miR-1287	CLIP-seq
MIRT934499	hsa-miR-145	CLIP-seq
MIRT934500	hsa-miR-302a	CLIP-seq
MIRT934501	hsa-miR-302b	CLIP-seq
MIRT934502	hsa-miR-302c	CLIP-seq
MIRT934503	hsa-miR-302d	CLIP-seq
MIRT934504	hsa-miR-302e	CLIP-seq
MIRT934505	hsa-miR-3135b	CLIP-seq
MIRT934506	hsa-miR-34a	CLIP-seq
MIRT934507	hsa-miR-34c-5p	CLIP-seq
MIRT934508	hsa-miR-372	CLIP-seq
MIRT934509	hsa-miR-373	CLIP-seq
MIRT934510	hsa-miR-374c	CLIP-seq
MIRT934511	hsa-miR-378g	CLIP-seq
MIRT934512	hsa-miR-3925-3p	CLIP-seq
MIRT934513	hsa-miR-4434	CLIP-seq
MIRT934514	hsa-miR-4437	CLIP-seq
MIRT934515	hsa-miR-4480	CLIP-seq
MIRT934516	hsa-miR-449a	CLIP-seq
MIRT934517	hsa-miR-449b	CLIP-seq
MIRT934518	hsa-miR-4516	CLIP-seq
MIRT934519	hsa-miR-4531	CLIP-seq
MIRT934520	hsa-miR-4638-3p	CLIP-seq
MIRT934521	hsa-miR-4674	CLIP-seq
MIRT934522	hsa-miR-4722-3p	CLIP-seq
MIRT934523	hsa-miR-4731-5p	CLIP-seq
MIRT934524	hsa-miR-4786-5p	CLIP-seq
MIRT934525	hsa-miR-512-3p	CLIP-seq
MIRT934526	hsa-miR-515-5p	CLIP-seq
MIRT934527	hsa-miR-520a-3p	CLIP-seq
MIRT934528	hsa-miR-520b	CLIP-seq
MIRT934529	hsa-miR-520c-3p	CLIP-seq
MIRT934530	hsa-miR-520d-3p	CLIP-seq
MIRT934531	hsa-miR-520e	CLIP-seq
MIRT934532	hsa-miR-548al	CLIP-seq
MIRT934533	hsa-miR-552	CLIP-seq
MIRT934534	hsa-miR-655	CLIP-seq
MIRT934535	hsa-miR-720	CLIP-seq
MIRT934536	hsa-miR-766	CLIP-seq
MIRT934537	hsa-miR-769-5p	CLIP-seq
MIRT934538	hsa-miR-1178	CLIP-seq
MIRT934539	hsa-miR-1204	CLIP-seq
MIRT934540	hsa-miR-1226	CLIP-seq
MIRT934541	hsa-miR-1243	CLIP-seq
MIRT934542	hsa-miR-1245b-3p	CLIP-seq
MIRT934543	hsa-miR-1255a	CLIP-seq
MIRT934544	hsa-miR-1255b	CLIP-seq
MIRT934545	hsa-miR-125a-5p	CLIP-seq
MIRT934546	hsa-miR-125b	CLIP-seq
MIRT934547	hsa-miR-1266	CLIP-seq
MIRT934548	hsa-miR-1268	CLIP-seq
MIRT934498	hsa-miR-1287	CLIP-seq
MIRT934549	hsa-miR-134	CLIP-seq
MIRT934550	hsa-miR-142-5p	CLIP-seq
MIRT934499	hsa-miR-145	CLIP-seq
MIRT934551	hsa-miR-1976	CLIP-seq
MIRT934552	hsa-miR-199a-5p	CLIP-seq
MIRT934553	hsa-miR-199b-5p	CLIP-seq
MIRT934500	hsa-miR-302a	CLIP-seq
MIRT934501	hsa-miR-302b	CLIP-seq
MIRT934502	hsa-miR-302c	CLIP-seq
MIRT934503	hsa-miR-302d	CLIP-seq
MIRT934504	hsa-miR-302e	CLIP-seq
MIRT934554	hsa-miR-3118	CLIP-seq
MIRT934555	hsa-miR-3128	CLIP-seq
MIRT934556	hsa-miR-3130-3p	CLIP-seq
MIRT934505	hsa-miR-3135b	CLIP-seq
MIRT934557	hsa-miR-3168	CLIP-seq
MIRT934558	hsa-miR-3173-3p	CLIP-seq
MIRT934559	hsa-miR-3178	CLIP-seq
MIRT934560	hsa-miR-331-5p	CLIP-seq
MIRT934561	hsa-miR-340	CLIP-seq
MIRT934506	hsa-miR-34a	CLIP-seq
MIRT934507	hsa-miR-34c-5p	CLIP-seq
MIRT934562	hsa-miR-3647-3p	CLIP-seq
MIRT934563	hsa-miR-3654	CLIP-seq
MIRT934564	hsa-miR-3669	CLIP-seq
MIRT934565	hsa-miR-3689a-3p	CLIP-seq
MIRT934566	hsa-miR-3689c	CLIP-seq
MIRT934567	hsa-miR-3689d	CLIP-seq
MIRT934568	hsa-miR-370	CLIP-seq
MIRT934508	hsa-miR-372	CLIP-seq
MIRT934509	hsa-miR-373	CLIP-seq
MIRT934511	hsa-miR-378g	CLIP-seq
MIRT934569	hsa-miR-3915	CLIP-seq
MIRT934570	hsa-miR-3923	CLIP-seq
MIRT934512	hsa-miR-3925-3p	CLIP-seq
MIRT934571	hsa-miR-3928	CLIP-seq
MIRT934572	hsa-miR-4265	CLIP-seq
MIRT934573	hsa-miR-4270	CLIP-seq
MIRT934574	hsa-miR-4271	CLIP-seq
MIRT934575	hsa-miR-4280	CLIP-seq
MIRT934576	hsa-miR-4296	CLIP-seq
MIRT934577	hsa-miR-4302	CLIP-seq
MIRT934578	hsa-miR-4319	CLIP-seq
MIRT934579	hsa-miR-4322	CLIP-seq
MIRT934580	hsa-miR-4417	CLIP-seq
MIRT934581	hsa-miR-4436b-3p	CLIP-seq
MIRT934514	hsa-miR-4437	CLIP-seq
MIRT934582	hsa-miR-4441	CLIP-seq
MIRT934515	hsa-miR-4480	CLIP-seq
MIRT934516	hsa-miR-449a	CLIP-seq
MIRT934517	hsa-miR-449b	CLIP-seq
MIRT934583	hsa-miR-4518	CLIP-seq
MIRT934520	hsa-miR-4638-3p	CLIP-seq
MIRT934584	hsa-miR-4648	CLIP-seq
MIRT934585	hsa-miR-4654	CLIP-seq
MIRT934586	hsa-miR-4670-3p	CLIP-seq
MIRT934521	hsa-miR-4674	CLIP-seq
MIRT934587	hsa-miR-4680-5p	CLIP-seq
MIRT934588	hsa-miR-4707-5p	CLIP-seq
MIRT934522	hsa-miR-4722-3p	CLIP-seq
MIRT934589	hsa-miR-4725-3p	CLIP-seq
MIRT934590	hsa-miR-4728-5p	CLIP-seq
MIRT934591	hsa-miR-4731-3p	CLIP-seq
MIRT934523	hsa-miR-4731-5p	CLIP-seq
MIRT934592	hsa-miR-4733-3p	CLIP-seq
MIRT934593	hsa-miR-4759	CLIP-seq
MIRT934594	hsa-miR-4761-3p	CLIP-seq
MIRT934595	hsa-miR-4769-5p	CLIP-seq
MIRT934596	hsa-miR-4793-3p	CLIP-seq
MIRT934597	hsa-miR-4800-3p	CLIP-seq
MIRT934598	hsa-miR-4801	CLIP-seq
MIRT934525	hsa-miR-512-3p	CLIP-seq
MIRT934599	hsa-miR-513a-5p	CLIP-seq
MIRT934527	hsa-miR-520a-3p	CLIP-seq
MIRT934528	hsa-miR-520b	CLIP-seq
MIRT934529	hsa-miR-520c-3p	CLIP-seq
MIRT934530	hsa-miR-520d-3p	CLIP-seq
MIRT934531	hsa-miR-520e	CLIP-seq
MIRT934600	hsa-miR-541	CLIP-seq
MIRT934601	hsa-miR-544b	CLIP-seq
MIRT934532	hsa-miR-548al	CLIP-seq
MIRT934602	hsa-miR-548m	CLIP-seq
MIRT934603	hsa-miR-618	CLIP-seq
MIRT934604	hsa-miR-628-3p	CLIP-seq
MIRT934605	hsa-miR-654-5p	CLIP-seq
MIRT934606	hsa-miR-661	CLIP-seq
MIRT934607	hsa-miR-7	CLIP-seq
MIRT934608	hsa-miR-759	CLIP-seq
MIRT934536	hsa-miR-766	CLIP-seq
MIRT934609	hsa-miR-767-3p	CLIP-seq
MIRT934610	hsa-miR-889	CLIP-seq
MIRT934558	hsa-miR-3173-3p	CLIP-seq
MIRT934567	hsa-miR-3689d	CLIP-seq
MIRT934541	hsa-miR-1243	CLIP-seq
MIRT934542	hsa-miR-1245b-3p	CLIP-seq
MIRT934499	hsa-miR-145	CLIP-seq
MIRT1976703	hsa-miR-204	CLIP-seq
MIRT1976704	hsa-miR-211	CLIP-seq
MIRT934500	hsa-miR-302a	CLIP-seq
MIRT934501	hsa-miR-302b	CLIP-seq
MIRT934502	hsa-miR-302c	CLIP-seq
MIRT934503	hsa-miR-302d	CLIP-seq
MIRT934504	hsa-miR-302e	CLIP-seq
MIRT934560	hsa-miR-331-5p	CLIP-seq
MIRT934563	hsa-miR-3654	CLIP-seq
MIRT934564	hsa-miR-3669	CLIP-seq
MIRT934508	hsa-miR-372	CLIP-seq
MIRT934509	hsa-miR-373	CLIP-seq
MIRT934511	hsa-miR-378g	CLIP-seq
MIRT934512	hsa-miR-3925-3p	CLIP-seq
MIRT1976705	hsa-miR-3938	CLIP-seq
MIRT934514	hsa-miR-4437	CLIP-seq
MIRT934515	hsa-miR-4480	CLIP-seq
MIRT1976706	hsa-miR-4493	CLIP-seq
MIRT1976707	hsa-miR-4635	CLIP-seq
MIRT934520	hsa-miR-4638-3p	CLIP-seq
MIRT934521	hsa-miR-4674	CLIP-seq
MIRT934522	hsa-miR-4722-3p	CLIP-seq
MIRT934523	hsa-miR-4731-5p	CLIP-seq
MIRT1976708	hsa-miR-4755-5p	CLIP-seq
MIRT1976709	hsa-miR-4758-3p	CLIP-seq
MIRT1976710	hsa-miR-4780	CLIP-seq
MIRT934525	hsa-miR-512-3p	CLIP-seq
MIRT934527	hsa-miR-520a-3p	CLIP-seq
MIRT934528	hsa-miR-520b	CLIP-seq
MIRT934529	hsa-miR-520c-3p	CLIP-seq
MIRT934530	hsa-miR-520d-3p	CLIP-seq
MIRT934531	hsa-miR-520e	CLIP-seq
MIRT1976711	hsa-miR-623	CLIP-seq
MIRT934536	hsa-miR-766	CLIP-seq
MIRT2212016	hsa-miR-2467-5p	CLIP-seq
MIRT2212017	hsa-miR-3188	CLIP-seq
MIRT2212018	hsa-miR-3975	CLIP-seq
MIRT2212019	hsa-miR-4268	CLIP-seq
MIRT2212020	hsa-miR-4444	CLIP-seq
MIRT2212021	hsa-miR-4668-3p	CLIP-seq
MIRT2212022	hsa-miR-485-5p	CLIP-seq
MIRT2212023	hsa-miR-571	CLIP-seq
MIRT934558	hsa-miR-3173-3p	CLIP-seq
MIRT934567	hsa-miR-3689d	CLIP-seq
MIRT934538	hsa-miR-1178	CLIP-seq
MIRT934539	hsa-miR-1204	CLIP-seq
MIRT2515785	hsa-miR-1224-3p	CLIP-seq
MIRT934540	hsa-miR-1226	CLIP-seq
MIRT934543	hsa-miR-1255a	CLIP-seq
MIRT934544	hsa-miR-1255b	CLIP-seq
MIRT934545	hsa-miR-125a-5p	CLIP-seq
MIRT934546	hsa-miR-125b	CLIP-seq
MIRT934548	hsa-miR-1268	CLIP-seq
MIRT934551	hsa-miR-1976	CLIP-seq
MIRT934552	hsa-miR-199a-5p	CLIP-seq
MIRT934553	hsa-miR-199b-5p	CLIP-seq
MIRT934556	hsa-miR-3130-3p	CLIP-seq
MIRT934505	hsa-miR-3135b	CLIP-seq
MIRT2515786	hsa-miR-3156-3p	CLIP-seq
MIRT934557	hsa-miR-3168	CLIP-seq
MIRT934559	hsa-miR-3178	CLIP-seq
MIRT934562	hsa-miR-3647-3p	CLIP-seq
MIRT934565	hsa-miR-3689a-3p	CLIP-seq
MIRT934566	hsa-miR-3689c	CLIP-seq
MIRT934568	hsa-miR-370	CLIP-seq
MIRT934510	hsa-miR-374c	CLIP-seq
MIRT934511	hsa-miR-378g	CLIP-seq
MIRT934570	hsa-miR-3923	CLIP-seq
MIRT934572	hsa-miR-4265	CLIP-seq
MIRT934575	hsa-miR-4280	CLIP-seq
MIRT934576	hsa-miR-4296	CLIP-seq
MIRT2515787	hsa-miR-4301	CLIP-seq
MIRT934577	hsa-miR-4302	CLIP-seq
MIRT934578	hsa-miR-4319	CLIP-seq
MIRT934579	hsa-miR-4322	CLIP-seq
MIRT934580	hsa-miR-4417	CLIP-seq
MIRT934513	hsa-miR-4434	CLIP-seq
MIRT934581	hsa-miR-4436b-3p	CLIP-seq
MIRT934514	hsa-miR-4437	CLIP-seq
MIRT934518	hsa-miR-4516	CLIP-seq
MIRT934519	hsa-miR-4531	CLIP-seq
MIRT934584	hsa-miR-4648	CLIP-seq
MIRT934585	hsa-miR-4654	CLIP-seq
MIRT934586	hsa-miR-4670-3p	CLIP-seq
MIRT934521	hsa-miR-4674	CLIP-seq
MIRT934588	hsa-miR-4707-5p	CLIP-seq
MIRT934590	hsa-miR-4728-5p	CLIP-seq
MIRT934591	hsa-miR-4731-3p	CLIP-seq
MIRT934592	hsa-miR-4733-3p	CLIP-seq
MIRT934593	hsa-miR-4759	CLIP-seq
MIRT934594	hsa-miR-4761-3p	CLIP-seq
MIRT934595	hsa-miR-4769-5p	CLIP-seq
MIRT934524	hsa-miR-4786-5p	CLIP-seq
MIRT934596	hsa-miR-4793-3p	CLIP-seq
MIRT934598	hsa-miR-4801	CLIP-seq
MIRT934599	hsa-miR-513a-5p	CLIP-seq
MIRT934526	hsa-miR-515-5p	CLIP-seq
MIRT934600	hsa-miR-541	CLIP-seq
MIRT934601	hsa-miR-544b	CLIP-seq
MIRT934602	hsa-miR-548m	CLIP-seq
MIRT934533	hsa-miR-552	CLIP-seq
MIRT934604	hsa-miR-628-3p	CLIP-seq
MIRT934605	hsa-miR-654-5p	CLIP-seq
MIRT934534	hsa-miR-655	CLIP-seq
MIRT934606	hsa-miR-661	CLIP-seq
MIRT934607	hsa-miR-7	CLIP-seq
MIRT934535	hsa-miR-720	CLIP-seq
MIRT934608	hsa-miR-759	CLIP-seq
MIRT934609	hsa-miR-767-3p	CLIP-seq
MIRT934537	hsa-miR-769-5p	CLIP-seq
MIRT934538	hsa-miR-1178	CLIP-seq
MIRT934539	hsa-miR-1204	CLIP-seq
MIRT934540	hsa-miR-1226	CLIP-seq
MIRT934543	hsa-miR-1255a	CLIP-seq
MIRT934544	hsa-miR-1255b	CLIP-seq
MIRT934545	hsa-miR-125a-5p	CLIP-seq
MIRT934546	hsa-miR-125b	CLIP-seq
MIRT934548	hsa-miR-1268	CLIP-seq
MIRT934551	hsa-miR-1976	CLIP-seq
MIRT934552	hsa-miR-199a-5p	CLIP-seq
MIRT934553	hsa-miR-199b-5p	CLIP-seq
MIRT934556	hsa-miR-3130-3p	CLIP-seq
MIRT934505	hsa-miR-3135b	CLIP-seq
MIRT2515786	hsa-miR-3156-3p	CLIP-seq
MIRT934557	hsa-miR-3168	CLIP-seq
MIRT934558	hsa-miR-3173-3p	CLIP-seq
MIRT934559	hsa-miR-3178	CLIP-seq
MIRT934562	hsa-miR-3647-3p	CLIP-seq
MIRT934565	hsa-miR-3689a-3p	CLIP-seq
MIRT934566	hsa-miR-3689c	CLIP-seq
MIRT934567	hsa-miR-3689d	CLIP-seq
MIRT934568	hsa-miR-370	CLIP-seq
MIRT934510	hsa-miR-374c	CLIP-seq
MIRT934511	hsa-miR-378g	CLIP-seq
MIRT934572	hsa-miR-4265	CLIP-seq
MIRT934575	hsa-miR-4280	CLIP-seq
MIRT934576	hsa-miR-4296	CLIP-seq
MIRT2515787	hsa-miR-4301	CLIP-seq
MIRT934577	hsa-miR-4302	CLIP-seq
MIRT934578	hsa-miR-4319	CLIP-seq
MIRT934579	hsa-miR-4322	CLIP-seq
MIRT934580	hsa-miR-4417	CLIP-seq
MIRT934513	hsa-miR-4434	CLIP-seq
MIRT934581	hsa-miR-4436b-3p	CLIP-seq
MIRT934514	hsa-miR-4437	CLIP-seq
MIRT934518	hsa-miR-4516	CLIP-seq
MIRT934519	hsa-miR-4531	CLIP-seq
MIRT934584	hsa-miR-4648	CLIP-seq
MIRT934585	hsa-miR-4654	CLIP-seq
MIRT934586	hsa-miR-4670-3p	CLIP-seq
MIRT934521	hsa-miR-4674	CLIP-seq
MIRT934588	hsa-miR-4707-5p	CLIP-seq
MIRT934590	hsa-miR-4728-5p	CLIP-seq
MIRT934591	hsa-miR-4731-3p	CLIP-seq
MIRT934592	hsa-miR-4733-3p	CLIP-seq
MIRT934593	hsa-miR-4759	CLIP-seq
MIRT934594	hsa-miR-4761-3p	CLIP-seq
MIRT934595	hsa-miR-4769-5p	CLIP-seq
MIRT934524	hsa-miR-4786-5p	CLIP-seq
MIRT934596	hsa-miR-4793-3p	CLIP-seq
MIRT934598	hsa-miR-4801	CLIP-seq
MIRT934599	hsa-miR-513a-5p	CLIP-seq
MIRT934526	hsa-miR-515-5p	CLIP-seq
MIRT934600	hsa-miR-541	CLIP-seq
MIRT934601	hsa-miR-544b	CLIP-seq
MIRT934533	hsa-miR-552	CLIP-seq
MIRT934605	hsa-miR-654-5p	CLIP-seq
MIRT934534	hsa-miR-655	CLIP-seq
MIRT934606	hsa-miR-661	CLIP-seq
MIRT934607	hsa-miR-7	CLIP-seq
MIRT934535	hsa-miR-720	CLIP-seq
MIRT934608	hsa-miR-759	CLIP-seq
MIRT934609	hsa-miR-767-3p	CLIP-seq
MIRT934537	hsa-miR-769-5p	CLIP-seq

Show/Hide all(32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25637936, 32694168
GO:0005640	Component	Nuclear outer membrane	IDA	9878250
GO:0005783	Component	Endoplasmic reticulum	IDA	9878250
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IBA
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IMP	9465114
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016628	Function	Oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0033489	Process	Cholesterol biosynthetic process via desmosterol	TAS
GO:0033490	Process	Cholesterol biosynthetic process via lathosterol	IMP	38297129, 38297130
GO:0033490	Process	Cholesterol biosynthetic process via lathosterol	TAS
GO:0033963	Function	Cholesterol-5,6-oxide hydrolase activity	IEA
GO:0033963	Function	Cholesterol-5,6-oxide hydrolase activity	IMP	20615952
GO:0047598	Function	7-dehydrocholesterol reductase activity	EXP	9465114
GO:0047598	Function	7-dehydrocholesterol reductase activity	IBA
GO:0047598	Function	7-dehydrocholesterol reductase activity	IDA	9465114
GO:0047598	Function	7-dehydrocholesterol reductase activity	IEA
GO:0047598	Function	7-dehydrocholesterol reductase activity	IMP	38297129, 38297130
GO:0050661	Function	NADP binding	ISS
GO:0160020	Process	Positive regulation of ferroptosis	IMP	38297129, 38297130

MIM	HGNC	e!Ensembl
602858	2860	ENSG00000172893

Protein

UniProt ID

Q9UBM7

Protein name

7-dehydrocholesterol reductase (7-DHC reductase) (EC 1.3.1.21) (Cholesterol-5,6-epoxide hydrolase subunit DHCR7) (EC 3.3.2.11) (Delta7-sterol reductase) (Sterol Delta(7)-reductase) (Sterol reductase SR-2)

Protein function

Oxidoreductase that catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core (PubMed:25637936, Pu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01222	ERG4_ERG24	40 → 475	Ergosterol biosynthesis ERG4/ERG24 family	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Most abundant in adrenal gland, liver, testis, and brain. {ECO:0000269|PubMed:9465114, ECO:0000269|PubMed:9878250}.

Sequence

MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMA
CDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHK
FLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPL
LWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD
HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDL
FRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL
ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF

Sequence length

475

Interactions

View interactions

	KEGG		Reactome
	Steroid biosynthesis Metabolic pathways		Activation of gene expression by SREBF (SREBP) Cholesterol biosynthesis via desmosterol Cholesterol biosynthesis via lathosterol

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Microcephaly	microcephaly	rs80338860	N/A
Smith-Lemli-Opitz Syndrome	smith-lemli-opitz syndrome	rs1057516610, rs80338860, rs769639753, rs1393186135, rs777425801, rs80338855, rs1318653026, rs121912195, rs750345068, rs1057516375, rs774187452, rs1032242817, rs781687341, rs80338856, rs1591109892 View all (83 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Bullous Pemphigoid	Bullous pemphigoid	N/A	N/A	GWAS
Hepatoblastoma	hepatoblastoma	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abdominal Injuries	Associate	14556255
Abortion Spontaneous	Associate	32055014
Adenoma Islet Cell	Associate	23979957
Agenesis of Corpus Callosum	Associate	33270637
Arthritis Rheumatoid	Associate	23636220, 28706201, 30796319
Bone Diseases Metabolic	Associate	30150596
Breast Neoplasms	Associate	30947698, 38526324
Capillary Malformation Arteriovenous Malformation	Associate	15965973
Carcinoma Hepatocellular	Associate	23734184, 29514927, 37891677
Death	Associate	32055014
Developmental Disabilities	Associate	31088393
Diabetes Mellitus Type 1	Associate	21441443, 32764491, 37170809
Feeding and Eating Disorders	Associate	14556255
Heart Murmurs	Associate	34187381
Helicobacter Infections	Associate	36710342
Hepatitis C	Associate	28415985
Hereditary leiomyomatosis and renal cell cancer	Associate	24890271
Hereditary renal agenesis	Associate	31840946
HIV Infections	Associate	23736144, 30139224
Hyperbilirubinemia Neonatal	Associate	37259065
Hyperlipidemias	Associate	39278776
Infant Newborn Diseases	Associate	20052364
Insulin Resistance	Associate	26416604
Intellectual Disability	Associate	31088393
Irritable Bowel Syndrome	Associate	33011346
Isotretinoin embryopathy like syndrome	Associate	30087204
Jaundice	Associate	14556255
Kidney Diseases	Associate	38297130
Liver Cirrhosis	Associate	28415985, 30139224
Lymphatic Metastasis	Stimulate	36164611, 38211648
Macular Degeneration	Associate	28651595
Metabolic Diseases	Associate	31637888
Microcephaly	Associate	14556255
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	31637888
Neoplasm Metastasis	Associate	26959888
Neoplasms	Associate	25406188, 26959888, 29315215, 38297130, 38526324
Neoplastic Syndromes Hereditary	Associate	30947698
Neurodegenerative Diseases	Associate	30623748
Osteoporosis	Associate	30150596
Panic Disorder	Associate	36750547
Polycythemia Vera	Associate	33836803
Ptosis Hereditary Congenital 2	Associate	14556255
Rickets	Associate	24073854
Sitosterolemia	Associate	39278776
Skin Diseases	Associate	28706201
Smith Lemli Opitz Syndrome	Associate	10677299, 11352988, 14556255, 15286151, 15965973, 18442819, 20052364, 20635399, 21724437, 22226660, 22391996, 22929031, 23918729, 26969503, 26976653 View all (14 more)
Stomach Neoplasms	Associate	36710342
Syndactyly type 3	Associate	14556255
Thyroid Neoplasms	Associate	31357732
Trisomy 13 Syndrome	Associate	15965973
Uterine Cervical Neoplasms	Associate	36164611
Uterine Cervical Neoplasms	Stimulate	38211648
Vitamin D Deficiency	Associate	21441443, 23219444, 23837623, 26149120, 28706201, 34675344, 34852423, 35256680, 37259065
Weight Loss	Associate	26416604

DHCR7 (7-dehydrocholesterol reductase)