CYB5R3 (cytochrome b5 reductase 3)

Gene

• Entrez ID: 1727
• Gene name: Cytochrome b5 reductase 3
• Gene symbol: CYB5R3
• Synonyms (NCBI Gene): B5R, DIA1
• Chromosome: 22
• Chromosome location: 22q13.2
• Summary: This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cy

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61732609	G>A	Pathogenic	Stop gained, coding sequence variant
rs121965006	A>G	Pathogenic	Coding sequence variant, missense variant
rs121965007	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs121965008	A>G	Pathogenic	Coding sequence variant, missense variant
rs121965009	C>T	Pathogenic	Coding sequence variant, missense variant
rs121965010	G>A	Pathogenic	Coding sequence variant, stop gained
rs121965011	A>G	Pathogenic	Coding sequence variant, missense variant
rs121965012	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs121965013	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs121965014	G>A	Pathogenic	Coding sequence variant, stop gained
rs121965015	C>T	Pathogenic	Coding sequence variant, missense variant
rs121965016	C>T	Pathogenic	Coding sequence variant, missense variant
rs121965017	CTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs121965018	T>C	Pathogenic	Coding sequence variant, missense variant
rs144071404	C>T	Pathogenic	Coding sequence variant, missense variant
rs200872504	C>G,T	Likely-benign, pathogenic	Intron variant
rs530251354	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs772310694	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs777361441	G>C	Pathogenic	Missense variant, coding sequence variant
rs794728011	C>A	Pathogenic	Splice acceptor variant
rs794728012	TCA>-	Pathogenic	Inframe deletion, coding sequence variant
rs794728013	T>G	Pathogenic	Splice acceptor variant
rs1210302322	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1299251737	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1601938489	A>G	Pathogenic	Splice donor variant
rs1601943088	T>G	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027454	hsa-miR-98-5p	Microarray	19088304
MIRT049610	hsa-miR-92a-3p	CLASH	23622248
MIRT043904	hsa-miR-378a-3p	CLASH	23622248
MIRT042354	hsa-miR-484	CLASH	23622248
MIRT037551	hsa-miR-744-5p	CLASH	23622248
MIRT619432	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT619431	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT619430	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT619429	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT619428	hsa-miR-6071	HITS-CLIP	23824327
MIRT619427	hsa-miR-544a	HITS-CLIP	23824327
MIRT619426	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT619432	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT619431	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT619430	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT619429	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT619428	hsa-miR-6071	HITS-CLIP	23824327
MIRT619427	hsa-miR-544a	HITS-CLIP	23824327
MIRT619426	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT619432	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT619431	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT619430	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT619429	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT619428	hsa-miR-6071	HITS-CLIP	23824327
MIRT619427	hsa-miR-544a	HITS-CLIP	23824327
MIRT619426	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT440852	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440852	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT619432	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT619431	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT619430	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT619429	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT619428	hsa-miR-6071	HITS-CLIP	23824327
MIRT619427	hsa-miR-544a	HITS-CLIP	23824327
MIRT619426	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT619432	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT619431	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT619430	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT619429	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT619428	hsa-miR-6071	HITS-CLIP	23824327
MIRT619427	hsa-miR-544a	HITS-CLIP	23824327
MIRT619426	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT619432	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT619431	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT619430	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT619429	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT619428	hsa-miR-6071	HITS-CLIP	23824327
MIRT619427	hsa-miR-544a	HITS-CLIP	23824327
MIRT619426	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT919548	hsa-miR-1273	CLIP-seq
MIRT919549	hsa-miR-1827	CLIP-seq
MIRT919550	hsa-miR-1908	CLIP-seq
MIRT919551	hsa-miR-2114	CLIP-seq
MIRT919552	hsa-miR-3122	CLIP-seq
MIRT919553	hsa-miR-3677-5p	CLIP-seq
MIRT919554	hsa-miR-3689a-3p	CLIP-seq
MIRT919555	hsa-miR-3689c	CLIP-seq
MIRT919556	hsa-miR-3913-5p	CLIP-seq
MIRT919557	hsa-miR-3929	CLIP-seq
MIRT919558	hsa-miR-4252	CLIP-seq
MIRT919559	hsa-miR-4258	CLIP-seq
MIRT919560	hsa-miR-4327	CLIP-seq
MIRT919561	hsa-miR-4419b	CLIP-seq
MIRT919562	hsa-miR-4433	CLIP-seq
MIRT919563	hsa-miR-4459	CLIP-seq
MIRT919564	hsa-miR-4478	CLIP-seq
MIRT919565	hsa-miR-4486	CLIP-seq
MIRT919566	hsa-miR-4537	CLIP-seq
MIRT919567	hsa-miR-4649-3p	CLIP-seq
MIRT919568	hsa-miR-4649-5p	CLIP-seq
MIRT919569	hsa-miR-4683	CLIP-seq
MIRT919570	hsa-miR-4722-5p	CLIP-seq
MIRT919571	hsa-miR-4728-5p	CLIP-seq
MIRT919572	hsa-miR-4767	CLIP-seq
MIRT919573	hsa-miR-4768-3p	CLIP-seq
MIRT919574	hsa-miR-4786-5p	CLIP-seq
MIRT919575	hsa-miR-4793-3p	CLIP-seq
MIRT919576	hsa-miR-485-5p	CLIP-seq
MIRT919577	hsa-miR-508-5p	CLIP-seq
MIRT919578	hsa-miR-566	CLIP-seq
MIRT919579	hsa-miR-585	CLIP-seq
MIRT919580	hsa-miR-661	CLIP-seq
MIRT919581	hsa-miR-663	CLIP-seq
MIRT919582	hsa-miR-766	CLIP-seq
MIRT919583	hsa-miR-890	CLIP-seq
MIRT919584	hsa-miR-940	CLIP-seq
MIRT919549	hsa-miR-1827	CLIP-seq
MIRT919550	hsa-miR-1908	CLIP-seq
MIRT919551	hsa-miR-2114	CLIP-seq
MIRT919585	hsa-miR-296-5p	CLIP-seq
MIRT919586	hsa-miR-3179	CLIP-seq
MIRT919587	hsa-miR-3189-5p	CLIP-seq
MIRT919588	hsa-miR-3192	CLIP-seq
MIRT919589	hsa-miR-3194-5p	CLIP-seq
MIRT919590	hsa-miR-3613-3p	CLIP-seq
MIRT919553	hsa-miR-3677-5p	CLIP-seq
MIRT919554	hsa-miR-3689a-3p	CLIP-seq
MIRT919555	hsa-miR-3689c	CLIP-seq
MIRT919557	hsa-miR-3929	CLIP-seq
MIRT919591	hsa-miR-3943	CLIP-seq
MIRT919592	hsa-miR-4283	CLIP-seq
MIRT919593	hsa-miR-4313	CLIP-seq
MIRT919561	hsa-miR-4419b	CLIP-seq
MIRT919594	hsa-miR-4435	CLIP-seq
MIRT919595	hsa-miR-4471	CLIP-seq
MIRT919564	hsa-miR-4478	CLIP-seq
MIRT919567	hsa-miR-4649-3p	CLIP-seq
MIRT919596	hsa-miR-4684-5p	CLIP-seq
MIRT919597	hsa-miR-4685-5p	CLIP-seq
MIRT919570	hsa-miR-4722-5p	CLIP-seq
MIRT919571	hsa-miR-4728-5p	CLIP-seq
MIRT919572	hsa-miR-4767	CLIP-seq
MIRT919573	hsa-miR-4768-3p	CLIP-seq
MIRT919576	hsa-miR-485-5p	CLIP-seq
MIRT919598	hsa-miR-548c-3p	CLIP-seq
MIRT919578	hsa-miR-566	CLIP-seq
MIRT919579	hsa-miR-585	CLIP-seq
MIRT919581	hsa-miR-663	CLIP-seq
MIRT919583	hsa-miR-890	CLIP-seq
MIRT919584	hsa-miR-940	CLIP-seq
MIRT919599	hsa-miR-1183	CLIP-seq
MIRT919600	hsa-miR-1262	CLIP-seq
MIRT919601	hsa-miR-1287	CLIP-seq
MIRT919602	hsa-miR-1324	CLIP-seq
MIRT919603	hsa-miR-134	CLIP-seq
MIRT919549	hsa-miR-1827	CLIP-seq
MIRT919604	hsa-miR-190	CLIP-seq
MIRT919550	hsa-miR-1908	CLIP-seq
MIRT919605	hsa-miR-190b	CLIP-seq
MIRT919606	hsa-miR-1914	CLIP-seq
MIRT919607	hsa-miR-199a-5p	CLIP-seq
MIRT919608	hsa-miR-199b-5p	CLIP-seq
MIRT919551	hsa-miR-2114	CLIP-seq
MIRT919609	hsa-miR-24	CLIP-seq
MIRT919585	hsa-miR-296-5p	CLIP-seq
MIRT919610	hsa-miR-299-3p	CLIP-seq
MIRT919611	hsa-miR-3118	CLIP-seq
MIRT919612	hsa-miR-3126-5p	CLIP-seq
MIRT919613	hsa-miR-3135b	CLIP-seq
MIRT919614	hsa-miR-3150a-3p	CLIP-seq
MIRT919615	hsa-miR-3151	CLIP-seq
MIRT919616	hsa-miR-3173-3p	CLIP-seq
MIRT919617	hsa-miR-3175	CLIP-seq
MIRT919618	hsa-miR-3191	CLIP-seq
MIRT919619	hsa-miR-338-3p	CLIP-seq
MIRT919590	hsa-miR-3613-3p	CLIP-seq
MIRT919553	hsa-miR-3677-5p	CLIP-seq
MIRT919554	hsa-miR-3689a-3p	CLIP-seq
MIRT919555	hsa-miR-3689c	CLIP-seq
MIRT919620	hsa-miR-3689d	CLIP-seq
MIRT919557	hsa-miR-3929	CLIP-seq
MIRT919559	hsa-miR-4258	CLIP-seq
MIRT919621	hsa-miR-4284	CLIP-seq
MIRT919622	hsa-miR-4299	CLIP-seq
MIRT919623	hsa-miR-4302	CLIP-seq
MIRT919560	hsa-miR-4327	CLIP-seq
MIRT919624	hsa-miR-4419a	CLIP-seq
MIRT919561	hsa-miR-4419b	CLIP-seq
MIRT919625	hsa-miR-4420	CLIP-seq
MIRT919562	hsa-miR-4433	CLIP-seq
MIRT919594	hsa-miR-4435	CLIP-seq
MIRT919626	hsa-miR-4447	CLIP-seq
MIRT919627	hsa-miR-4456	CLIP-seq
MIRT919563	hsa-miR-4459	CLIP-seq
MIRT919628	hsa-miR-4472	CLIP-seq
MIRT919564	hsa-miR-4478	CLIP-seq
MIRT919629	hsa-miR-4484	CLIP-seq
MIRT919630	hsa-miR-4509	CLIP-seq
MIRT919631	hsa-miR-4510	CLIP-seq
MIRT919632	hsa-miR-4532	CLIP-seq
MIRT919633	hsa-miR-4533	CLIP-seq
MIRT919566	hsa-miR-4537	CLIP-seq
MIRT919567	hsa-miR-4649-3p	CLIP-seq
MIRT919569	hsa-miR-4683	CLIP-seq
MIRT919634	hsa-miR-4701-3p	CLIP-seq
MIRT919635	hsa-miR-4710	CLIP-seq
MIRT919570	hsa-miR-4722-5p	CLIP-seq
MIRT919571	hsa-miR-4728-5p	CLIP-seq
MIRT919636	hsa-miR-4731-5p	CLIP-seq
MIRT919637	hsa-miR-4744	CLIP-seq
MIRT919638	hsa-miR-4747-5p	CLIP-seq
MIRT919572	hsa-miR-4767	CLIP-seq
MIRT919573	hsa-miR-4768-3p	CLIP-seq
MIRT919639	hsa-miR-4779	CLIP-seq
MIRT919574	hsa-miR-4786-5p	CLIP-seq
MIRT919640	hsa-miR-4792	CLIP-seq
MIRT919576	hsa-miR-485-5p	CLIP-seq
MIRT919641	hsa-miR-491-5p	CLIP-seq
MIRT919642	hsa-miR-548an	CLIP-seq
MIRT919643	hsa-miR-548q	CLIP-seq
MIRT919578	hsa-miR-566	CLIP-seq
MIRT919579	hsa-miR-585	CLIP-seq
MIRT919644	hsa-miR-637	CLIP-seq
MIRT919645	hsa-miR-648	CLIP-seq
MIRT919646	hsa-miR-651	CLIP-seq
MIRT919581	hsa-miR-663	CLIP-seq
MIRT919583	hsa-miR-890	CLIP-seq
MIRT919647	hsa-miR-939	CLIP-seq
MIRT919584	hsa-miR-940	CLIP-seq
MIRT919602	hsa-miR-1324	CLIP-seq
MIRT919602	hsa-miR-1324	CLIP-seq
MIRT1547719	hsa-miR-4740-3p	CLIP-seq
MIRT1972599	hsa-miR-1184	CLIP-seq
MIRT1972600	hsa-miR-1197	CLIP-seq
MIRT1972601	hsa-miR-1204	CLIP-seq
MIRT1972602	hsa-miR-1236	CLIP-seq
MIRT1972603	hsa-miR-1301	CLIP-seq
MIRT1972604	hsa-miR-1587	CLIP-seq
MIRT919549	hsa-miR-1827	CLIP-seq
MIRT919550	hsa-miR-1908	CLIP-seq
MIRT919606	hsa-miR-1914	CLIP-seq
MIRT919607	hsa-miR-199a-5p	CLIP-seq
MIRT919608	hsa-miR-199b-5p	CLIP-seq
MIRT919551	hsa-miR-2114	CLIP-seq
MIRT919609	hsa-miR-24	CLIP-seq
MIRT919585	hsa-miR-296-5p	CLIP-seq
MIRT1972605	hsa-miR-3117-3p	CLIP-seq
MIRT1972606	hsa-miR-3125	CLIP-seq
MIRT919612	hsa-miR-3126-5p	CLIP-seq
MIRT1972607	hsa-miR-3136-3p	CLIP-seq
MIRT919616	hsa-miR-3173-3p	CLIP-seq
MIRT1972608	hsa-miR-3173-5p	CLIP-seq
MIRT919586	hsa-miR-3179	CLIP-seq
MIRT919618	hsa-miR-3191	CLIP-seq
MIRT919588	hsa-miR-3192	CLIP-seq
MIRT919619	hsa-miR-338-3p	CLIP-seq
MIRT919553	hsa-miR-3677-5p	CLIP-seq
MIRT919554	hsa-miR-3689a-3p	CLIP-seq
MIRT919555	hsa-miR-3689c	CLIP-seq
MIRT1972609	hsa-miR-3916	CLIP-seq
MIRT919557	hsa-miR-3929	CLIP-seq
MIRT1972610	hsa-miR-4267	CLIP-seq
MIRT919592	hsa-miR-4283	CLIP-seq
MIRT919623	hsa-miR-4302	CLIP-seq
MIRT1972611	hsa-miR-4314	CLIP-seq
MIRT919560	hsa-miR-4327	CLIP-seq
MIRT919624	hsa-miR-4419a	CLIP-seq
MIRT919561	hsa-miR-4419b	CLIP-seq
MIRT919562	hsa-miR-4433	CLIP-seq
MIRT919594	hsa-miR-4435	CLIP-seq
MIRT919563	hsa-miR-4459	CLIP-seq
MIRT919595	hsa-miR-4471	CLIP-seq
MIRT919564	hsa-miR-4478	CLIP-seq
MIRT1972612	hsa-miR-4492	CLIP-seq
MIRT1972613	hsa-miR-4498	CLIP-seq
MIRT919631	hsa-miR-4510	CLIP-seq
MIRT919632	hsa-miR-4532	CLIP-seq
MIRT919633	hsa-miR-4533	CLIP-seq
MIRT1972614	hsa-miR-4540	CLIP-seq
MIRT1972615	hsa-miR-4641	CLIP-seq
MIRT1972616	hsa-miR-4646-5p	CLIP-seq
MIRT919567	hsa-miR-4649-3p	CLIP-seq
MIRT1972617	hsa-miR-4656	CLIP-seq
MIRT1972618	hsa-miR-4660	CLIP-seq
MIRT1972619	hsa-miR-4666-5p	CLIP-seq
MIRT1972620	hsa-miR-4674	CLIP-seq
MIRT1972621	hsa-miR-4675	CLIP-seq
MIRT919569	hsa-miR-4683	CLIP-seq
MIRT919596	hsa-miR-4684-5p	CLIP-seq
MIRT919597	hsa-miR-4685-5p	CLIP-seq
MIRT919635	hsa-miR-4710	CLIP-seq
MIRT919570	hsa-miR-4722-5p	CLIP-seq
MIRT1972622	hsa-miR-4728-3p	CLIP-seq
MIRT919571	hsa-miR-4728-5p	CLIP-seq
MIRT919636	hsa-miR-4731-5p	CLIP-seq
MIRT1547719	hsa-miR-4740-3p	CLIP-seq
MIRT1972623	hsa-miR-4741	CLIP-seq
MIRT919638	hsa-miR-4747-5p	CLIP-seq
MIRT1972624	hsa-miR-4755-3p	CLIP-seq
MIRT919572	hsa-miR-4767	CLIP-seq
MIRT919573	hsa-miR-4768-3p	CLIP-seq
MIRT919639	hsa-miR-4779	CLIP-seq
MIRT919574	hsa-miR-4786-5p	CLIP-seq
MIRT919576	hsa-miR-485-5p	CLIP-seq
MIRT1972625	hsa-miR-5047	CLIP-seq
MIRT919579	hsa-miR-585	CLIP-seq
MIRT919644	hsa-miR-637	CLIP-seq
MIRT919645	hsa-miR-648	CLIP-seq
MIRT919646	hsa-miR-651	CLIP-seq
MIRT919581	hsa-miR-663	CLIP-seq
MIRT1972626	hsa-miR-663b	CLIP-seq
MIRT1972627	hsa-miR-762	CLIP-seq
MIRT919583	hsa-miR-890	CLIP-seq
MIRT919584	hsa-miR-940	CLIP-seq
MIRT919599	hsa-miR-1183	CLIP-seq
MIRT1972599	hsa-miR-1184	CLIP-seq
MIRT2208193	hsa-miR-1193	CLIP-seq
MIRT1972600	hsa-miR-1197	CLIP-seq
MIRT1972602	hsa-miR-1236	CLIP-seq
MIRT2208194	hsa-miR-125a-5p	CLIP-seq
MIRT2208195	hsa-miR-125b	CLIP-seq
MIRT919548	hsa-miR-1273	CLIP-seq
MIRT1972603	hsa-miR-1301	CLIP-seq
MIRT2208196	hsa-miR-1302	CLIP-seq
MIRT919602	hsa-miR-1324	CLIP-seq
MIRT2208197	hsa-miR-142-3p	CLIP-seq
MIRT1972604	hsa-miR-1587	CLIP-seq
MIRT919549	hsa-miR-1827	CLIP-seq
MIRT919604	hsa-miR-190	CLIP-seq
MIRT919605	hsa-miR-190b	CLIP-seq
MIRT919551	hsa-miR-2114	CLIP-seq
MIRT1972605	hsa-miR-3117-3p	CLIP-seq
MIRT919612	hsa-miR-3126-5p	CLIP-seq
MIRT2208198	hsa-miR-3160-3p	CLIP-seq
MIRT919616	hsa-miR-3173-3p	CLIP-seq
MIRT1972608	hsa-miR-3173-5p	CLIP-seq
MIRT2208199	hsa-miR-3174	CLIP-seq
MIRT919588	hsa-miR-3192	CLIP-seq
MIRT2208200	hsa-miR-3197	CLIP-seq
MIRT919619	hsa-miR-338-3p	CLIP-seq
MIRT919554	hsa-miR-3689a-3p	CLIP-seq
MIRT919555	hsa-miR-3689c	CLIP-seq
MIRT919620	hsa-miR-3689d	CLIP-seq
MIRT919557	hsa-miR-3929	CLIP-seq
MIRT2208201	hsa-miR-3975	CLIP-seq
MIRT919558	hsa-miR-4252	CLIP-seq
MIRT919559	hsa-miR-4258	CLIP-seq
MIRT1972610	hsa-miR-4267	CLIP-seq
MIRT2208202	hsa-miR-4298	CLIP-seq
MIRT1972611	hsa-miR-4314	CLIP-seq
MIRT2208203	hsa-miR-4319	CLIP-seq
MIRT919560	hsa-miR-4327	CLIP-seq
MIRT919624	hsa-miR-4419a	CLIP-seq
MIRT919561	hsa-miR-4419b	CLIP-seq
MIRT919625	hsa-miR-4420	CLIP-seq
MIRT919562	hsa-miR-4433	CLIP-seq
MIRT919594	hsa-miR-4435	CLIP-seq
MIRT919626	hsa-miR-4447	CLIP-seq
MIRT919563	hsa-miR-4459	CLIP-seq
MIRT919628	hsa-miR-4472	CLIP-seq
MIRT919564	hsa-miR-4478	CLIP-seq
MIRT919629	hsa-miR-4484	CLIP-seq
MIRT919565	hsa-miR-4486	CLIP-seq
MIRT2208204	hsa-miR-4487	CLIP-seq
MIRT1972612	hsa-miR-4492	CLIP-seq
MIRT1972613	hsa-miR-4498	CLIP-seq
MIRT919630	hsa-miR-4509	CLIP-seq
MIRT919631	hsa-miR-4510	CLIP-seq
MIRT919633	hsa-miR-4533	CLIP-seq
MIRT919566	hsa-miR-4537	CLIP-seq
MIRT1972615	hsa-miR-4641	CLIP-seq
MIRT1972616	hsa-miR-4646-5p	CLIP-seq
MIRT919567	hsa-miR-4649-3p	CLIP-seq
MIRT919568	hsa-miR-4649-5p	CLIP-seq
MIRT1972617	hsa-miR-4656	CLIP-seq
MIRT1972618	hsa-miR-4660	CLIP-seq
MIRT1972620	hsa-miR-4674	CLIP-seq
MIRT1972621	hsa-miR-4675	CLIP-seq
MIRT919569	hsa-miR-4683	CLIP-seq
MIRT2208205	hsa-miR-4690-3p	CLIP-seq
MIRT919635	hsa-miR-4710	CLIP-seq
MIRT919570	hsa-miR-4722-5p	CLIP-seq
MIRT919571	hsa-miR-4728-5p	CLIP-seq
MIRT919636	hsa-miR-4731-5p	CLIP-seq
MIRT1547719	hsa-miR-4740-3p	CLIP-seq
MIRT1972623	hsa-miR-4741	CLIP-seq
MIRT919637	hsa-miR-4744	CLIP-seq
MIRT919638	hsa-miR-4747-5p	CLIP-seq
MIRT1972624	hsa-miR-4755-3p	CLIP-seq
MIRT919572	hsa-miR-4767	CLIP-seq
MIRT919573	hsa-miR-4768-3p	CLIP-seq
MIRT919639	hsa-miR-4779	CLIP-seq
MIRT919574	hsa-miR-4786-5p	CLIP-seq
MIRT919575	hsa-miR-4793-3p	CLIP-seq
MIRT919576	hsa-miR-485-5p	CLIP-seq
MIRT1972625	hsa-miR-5047	CLIP-seq
MIRT919577	hsa-miR-508-5p	CLIP-seq
MIRT2208206	hsa-miR-544b	CLIP-seq
MIRT2208207	hsa-miR-548ad	CLIP-seq
MIRT919642	hsa-miR-548an	CLIP-seq
MIRT2208208	hsa-miR-553	CLIP-seq
MIRT2208209	hsa-miR-558	CLIP-seq
MIRT919579	hsa-miR-585	CLIP-seq
MIRT919644	hsa-miR-637	CLIP-seq
MIRT919646	hsa-miR-651	CLIP-seq
MIRT919580	hsa-miR-661	CLIP-seq
MIRT1972626	hsa-miR-663b	CLIP-seq
MIRT1972627	hsa-miR-762	CLIP-seq
MIRT919582	hsa-miR-766	CLIP-seq
MIRT919583	hsa-miR-890	CLIP-seq
MIRT2208210	hsa-miR-921	CLIP-seq
MIRT919584	hsa-miR-940	CLIP-seq
MIRT919604	hsa-miR-190	CLIP-seq
MIRT919605	hsa-miR-190b	CLIP-seq
MIRT919599	hsa-miR-1183	CLIP-seq
MIRT2436575	hsa-miR-1226	CLIP-seq
MIRT2436576	hsa-miR-125a-3p	CLIP-seq
MIRT2208196	hsa-miR-1302	CLIP-seq
MIRT919604	hsa-miR-190	CLIP-seq
MIRT919605	hsa-miR-190b	CLIP-seq
MIRT2436577	hsa-miR-197	CLIP-seq
MIRT2436578	hsa-miR-1972	CLIP-seq
MIRT919607	hsa-miR-199a-5p	CLIP-seq
MIRT919608	hsa-miR-199b-5p	CLIP-seq
MIRT919585	hsa-miR-296-5p	CLIP-seq
MIRT919610	hsa-miR-299-3p	CLIP-seq
MIRT919615	hsa-miR-3151	CLIP-seq
MIRT2436579	hsa-miR-3157-5p	CLIP-seq
MIRT1972608	hsa-miR-3173-5p	CLIP-seq
MIRT919586	hsa-miR-3179	CLIP-seq
MIRT919588	hsa-miR-3192	CLIP-seq
MIRT919557	hsa-miR-3929	CLIP-seq
MIRT919592	hsa-miR-4283	CLIP-seq
MIRT2208202	hsa-miR-4298	CLIP-seq
MIRT919623	hsa-miR-4302	CLIP-seq
MIRT1972611	hsa-miR-4314	CLIP-seq
MIRT919561	hsa-miR-4419b	CLIP-seq
MIRT919625	hsa-miR-4420	CLIP-seq
MIRT919626	hsa-miR-4447	CLIP-seq
MIRT919595	hsa-miR-4471	CLIP-seq
MIRT919628	hsa-miR-4472	CLIP-seq
MIRT919564	hsa-miR-4478	CLIP-seq
MIRT919629	hsa-miR-4484	CLIP-seq
MIRT919630	hsa-miR-4509	CLIP-seq
MIRT919632	hsa-miR-4532	CLIP-seq
MIRT1972616	hsa-miR-4646-5p	CLIP-seq
MIRT919597	hsa-miR-4685-5p	CLIP-seq
MIRT2436580	hsa-miR-4691-3p	CLIP-seq
MIRT2436581	hsa-miR-4733-3p	CLIP-seq
MIRT919637	hsa-miR-4744	CLIP-seq
MIRT1972624	hsa-miR-4755-3p	CLIP-seq
MIRT919641	hsa-miR-491-5p	CLIP-seq
MIRT919642	hsa-miR-548an	CLIP-seq
MIRT2436582	hsa-miR-564	CLIP-seq
MIRT919645	hsa-miR-648	CLIP-seq
MIRT919599	hsa-miR-1183	CLIP-seq
MIRT919629	hsa-miR-4484	CLIP-seq
MIRT919630	hsa-miR-4509	CLIP-seq
MIRT919637	hsa-miR-4744	CLIP-seq
MIRT919642	hsa-miR-548an	CLIP-seq
MIRT919578	hsa-miR-566	CLIP-seq
MIRT919549	hsa-miR-1827	CLIP-seq
MIRT919550	hsa-miR-1908	CLIP-seq
MIRT919551	hsa-miR-2114	CLIP-seq
MIRT919552	hsa-miR-3122	CLIP-seq
MIRT919590	hsa-miR-3613-3p	CLIP-seq
MIRT919553	hsa-miR-3677-5p	CLIP-seq
MIRT919554	hsa-miR-3689a-3p	CLIP-seq
MIRT919555	hsa-miR-3689c	CLIP-seq
MIRT919556	hsa-miR-3913-5p	CLIP-seq
MIRT919557	hsa-miR-3929	CLIP-seq
MIRT919561	hsa-miR-4419b	CLIP-seq
MIRT919562	hsa-miR-4433	CLIP-seq
MIRT919563	hsa-miR-4459	CLIP-seq
MIRT919564	hsa-miR-4478	CLIP-seq
MIRT919567	hsa-miR-4649-3p	CLIP-seq
MIRT919569	hsa-miR-4683	CLIP-seq
MIRT919596	hsa-miR-4684-5p	CLIP-seq
MIRT919570	hsa-miR-4722-5p	CLIP-seq
MIRT919571	hsa-miR-4728-5p	CLIP-seq
MIRT919572	hsa-miR-4767	CLIP-seq
MIRT919573	hsa-miR-4768-3p	CLIP-seq
MIRT919576	hsa-miR-485-5p	CLIP-seq
MIRT919598	hsa-miR-548c-3p	CLIP-seq
MIRT919578	hsa-miR-566	CLIP-seq
MIRT919579	hsa-miR-585	CLIP-seq
MIRT919581	hsa-miR-663	CLIP-seq
MIRT919583	hsa-miR-890	CLIP-seq
MIRT919584	hsa-miR-940	CLIP-seq
MIRT919599	hsa-miR-1183	CLIP-seq
MIRT2511861	hsa-miR-1224-5p	CLIP-seq
MIRT919548	hsa-miR-1273	CLIP-seq
MIRT919602	hsa-miR-1324	CLIP-seq
MIRT2511862	hsa-miR-147	CLIP-seq
MIRT919549	hsa-miR-1827	CLIP-seq
MIRT919604	hsa-miR-190	CLIP-seq
MIRT919550	hsa-miR-1908	CLIP-seq
MIRT919605	hsa-miR-190b	CLIP-seq
MIRT919606	hsa-miR-1914	CLIP-seq
MIRT919551	hsa-miR-2114	CLIP-seq
MIRT1972605	hsa-miR-3117-3p	CLIP-seq
MIRT919552	hsa-miR-3122	CLIP-seq
MIRT919612	hsa-miR-3126-5p	CLIP-seq
MIRT919615	hsa-miR-3151	CLIP-seq
MIRT919616	hsa-miR-3173-3p	CLIP-seq
MIRT919618	hsa-miR-3191	CLIP-seq
MIRT919590	hsa-miR-3613-3p	CLIP-seq
MIRT2511863	hsa-miR-3675-5p	CLIP-seq
MIRT919553	hsa-miR-3677-5p	CLIP-seq
MIRT919554	hsa-miR-3689a-3p	CLIP-seq
MIRT919555	hsa-miR-3689c	CLIP-seq
MIRT919620	hsa-miR-3689d	CLIP-seq
MIRT2511864	hsa-miR-371-5p	CLIP-seq
MIRT2511865	hsa-miR-371b-5p	CLIP-seq
MIRT2511866	hsa-miR-3911	CLIP-seq
MIRT2511867	hsa-miR-3913-3p	CLIP-seq
MIRT919556	hsa-miR-3913-5p	CLIP-seq
MIRT919557	hsa-miR-3929	CLIP-seq
MIRT919558	hsa-miR-4252	CLIP-seq
MIRT919559	hsa-miR-4258	CLIP-seq
MIRT2511868	hsa-miR-4265	CLIP-seq
MIRT2511869	hsa-miR-4270	CLIP-seq
MIRT919592	hsa-miR-4283	CLIP-seq
MIRT2511870	hsa-miR-4296	CLIP-seq
MIRT2511871	hsa-miR-4322	CLIP-seq
MIRT919560	hsa-miR-4327	CLIP-seq
MIRT919624	hsa-miR-4419a	CLIP-seq
MIRT919561	hsa-miR-4419b	CLIP-seq
MIRT919625	hsa-miR-4420	CLIP-seq
MIRT919562	hsa-miR-4433	CLIP-seq
MIRT2511872	hsa-miR-4441	CLIP-seq
MIRT919626	hsa-miR-4447	CLIP-seq
MIRT919563	hsa-miR-4459	CLIP-seq
MIRT919628	hsa-miR-4472	CLIP-seq
MIRT919564	hsa-miR-4478	CLIP-seq
MIRT919629	hsa-miR-4484	CLIP-seq
MIRT919565	hsa-miR-4486	CLIP-seq
MIRT2511873	hsa-miR-4489	CLIP-seq
MIRT1972612	hsa-miR-4492	CLIP-seq
MIRT1972613	hsa-miR-4498	CLIP-seq
MIRT2511874	hsa-miR-4505	CLIP-seq
MIRT2511875	hsa-miR-4508	CLIP-seq
MIRT919630	hsa-miR-4509	CLIP-seq
MIRT919631	hsa-miR-4510	CLIP-seq
MIRT919633	hsa-miR-4533	CLIP-seq
MIRT919566	hsa-miR-4537	CLIP-seq
MIRT2511876	hsa-miR-4648	CLIP-seq
MIRT919567	hsa-miR-4649-3p	CLIP-seq
MIRT919568	hsa-miR-4649-5p	CLIP-seq
MIRT2511877	hsa-miR-4651	CLIP-seq
MIRT2511878	hsa-miR-4654	CLIP-seq
MIRT919569	hsa-miR-4683	CLIP-seq
MIRT919596	hsa-miR-4684-5p	CLIP-seq
MIRT2511879	hsa-miR-4687-5p	CLIP-seq
MIRT919635	hsa-miR-4710	CLIP-seq
MIRT919570	hsa-miR-4722-5p	CLIP-seq
MIRT2511880	hsa-miR-4727-5p	CLIP-seq
MIRT919571	hsa-miR-4728-5p	CLIP-seq
MIRT919636	hsa-miR-4731-5p	CLIP-seq
MIRT1547719	hsa-miR-4740-3p	CLIP-seq
MIRT919637	hsa-miR-4744	CLIP-seq
MIRT919638	hsa-miR-4747-5p	CLIP-seq
MIRT2511881	hsa-miR-4751	CLIP-seq
MIRT919572	hsa-miR-4767	CLIP-seq
MIRT919573	hsa-miR-4768-3p	CLIP-seq
MIRT2511882	hsa-miR-4769-3p	CLIP-seq
MIRT2511883	hsa-miR-4769-5p	CLIP-seq
MIRT919639	hsa-miR-4779	CLIP-seq
MIRT919574	hsa-miR-4786-5p	CLIP-seq
MIRT2511884	hsa-miR-4790-3p	CLIP-seq
MIRT919575	hsa-miR-4793-3p	CLIP-seq
MIRT2511885	hsa-miR-483-5p	CLIP-seq
MIRT919576	hsa-miR-485-5p	CLIP-seq
MIRT2511886	hsa-miR-489	CLIP-seq
MIRT919641	hsa-miR-491-5p	CLIP-seq
MIRT919577	hsa-miR-508-5p	CLIP-seq
MIRT2511887	hsa-miR-541	CLIP-seq
MIRT2208207	hsa-miR-548ad	CLIP-seq
MIRT919642	hsa-miR-548an	CLIP-seq
MIRT919598	hsa-miR-548c-3p	CLIP-seq
MIRT2208208	hsa-miR-553	CLIP-seq
MIRT919578	hsa-miR-566	CLIP-seq
MIRT919579	hsa-miR-585	CLIP-seq
MIRT2511888	hsa-miR-608	CLIP-seq
MIRT919644	hsa-miR-637	CLIP-seq
MIRT2511889	hsa-miR-644	CLIP-seq
MIRT919645	hsa-miR-648	CLIP-seq
MIRT919646	hsa-miR-651	CLIP-seq
MIRT2511890	hsa-miR-654-5p	CLIP-seq
MIRT919580	hsa-miR-661	CLIP-seq
MIRT919581	hsa-miR-663	CLIP-seq
MIRT1972627	hsa-miR-762	CLIP-seq
MIRT919582	hsa-miR-766	CLIP-seq
MIRT2511891	hsa-miR-885-3p	CLIP-seq
MIRT919583	hsa-miR-890	CLIP-seq
MIRT919584	hsa-miR-940	CLIP-seq
MIRT919599	hsa-miR-1183	CLIP-seq
MIRT1972599	hsa-miR-1184	CLIP-seq
MIRT1972600	hsa-miR-1197	CLIP-seq
MIRT2511861	hsa-miR-1224-5p	CLIP-seq
MIRT919548	hsa-miR-1273	CLIP-seq
MIRT1972603	hsa-miR-1301	CLIP-seq
MIRT919602	hsa-miR-1324	CLIP-seq
MIRT2511862	hsa-miR-147	CLIP-seq
MIRT1972604	hsa-miR-1587	CLIP-seq
MIRT919549	hsa-miR-1827	CLIP-seq
MIRT919604	hsa-miR-190	CLIP-seq
MIRT919550	hsa-miR-1908	CLIP-seq
MIRT919605	hsa-miR-190b	CLIP-seq
MIRT919606	hsa-miR-1914	CLIP-seq
MIRT919551	hsa-miR-2114	CLIP-seq
MIRT1972605	hsa-miR-3117-3p	CLIP-seq
MIRT919552	hsa-miR-3122	CLIP-seq
MIRT1972606	hsa-miR-3125	CLIP-seq
MIRT919612	hsa-miR-3126-5p	CLIP-seq
MIRT919615	hsa-miR-3151	CLIP-seq
MIRT919616	hsa-miR-3173-3p	CLIP-seq
MIRT919618	hsa-miR-3191	CLIP-seq
MIRT919590	hsa-miR-3613-3p	CLIP-seq
MIRT2511863	hsa-miR-3675-5p	CLIP-seq
MIRT919553	hsa-miR-3677-5p	CLIP-seq
MIRT919554	hsa-miR-3689a-3p	CLIP-seq
MIRT919555	hsa-miR-3689c	CLIP-seq
MIRT2511864	hsa-miR-371-5p	CLIP-seq
MIRT2511865	hsa-miR-371b-5p	CLIP-seq
MIRT2511866	hsa-miR-3911	CLIP-seq
MIRT2511867	hsa-miR-3913-3p	CLIP-seq
MIRT919556	hsa-miR-3913-5p	CLIP-seq
MIRT1972609	hsa-miR-3916	CLIP-seq
MIRT919557	hsa-miR-3929	CLIP-seq
MIRT919558	hsa-miR-4252	CLIP-seq
MIRT919559	hsa-miR-4258	CLIP-seq
MIRT2511868	hsa-miR-4265	CLIP-seq
MIRT2511869	hsa-miR-4270	CLIP-seq
MIRT919592	hsa-miR-4283	CLIP-seq
MIRT2511870	hsa-miR-4296	CLIP-seq
MIRT2511871	hsa-miR-4322	CLIP-seq
MIRT919560	hsa-miR-4327	CLIP-seq
MIRT919624	hsa-miR-4419a	CLIP-seq
MIRT919561	hsa-miR-4419b	CLIP-seq
MIRT919625	hsa-miR-4420	CLIP-seq
MIRT919562	hsa-miR-4433	CLIP-seq
MIRT2511872	hsa-miR-4441	CLIP-seq
MIRT919626	hsa-miR-4447	CLIP-seq
MIRT919563	hsa-miR-4459	CLIP-seq
MIRT919628	hsa-miR-4472	CLIP-seq
MIRT919564	hsa-miR-4478	CLIP-seq
MIRT919629	hsa-miR-4484	CLIP-seq
MIRT919565	hsa-miR-4486	CLIP-seq
MIRT2511873	hsa-miR-4489	CLIP-seq
MIRT1972612	hsa-miR-4492	CLIP-seq
MIRT1972613	hsa-miR-4498	CLIP-seq
MIRT2511874	hsa-miR-4505	CLIP-seq
MIRT2511875	hsa-miR-4508	CLIP-seq
MIRT919630	hsa-miR-4509	CLIP-seq
MIRT919631	hsa-miR-4510	CLIP-seq
MIRT919633	hsa-miR-4533	CLIP-seq
MIRT919566	hsa-miR-4537	CLIP-seq
MIRT1972615	hsa-miR-4641	CLIP-seq
MIRT2511876	hsa-miR-4648	CLIP-seq
MIRT919567	hsa-miR-4649-3p	CLIP-seq
MIRT919568	hsa-miR-4649-5p	CLIP-seq
MIRT2511877	hsa-miR-4651	CLIP-seq
MIRT2511878	hsa-miR-4654	CLIP-seq
MIRT1972617	hsa-miR-4656	CLIP-seq
MIRT1972618	hsa-miR-4660	CLIP-seq
MIRT1972620	hsa-miR-4674	CLIP-seq
MIRT1972621	hsa-miR-4675	CLIP-seq
MIRT919569	hsa-miR-4683	CLIP-seq
MIRT919596	hsa-miR-4684-5p	CLIP-seq
MIRT2511879	hsa-miR-4687-5p	CLIP-seq
MIRT919635	hsa-miR-4710	CLIP-seq
MIRT919570	hsa-miR-4722-5p	CLIP-seq
MIRT2511880	hsa-miR-4727-5p	CLIP-seq
MIRT919571	hsa-miR-4728-5p	CLIP-seq
MIRT919636	hsa-miR-4731-5p	CLIP-seq
MIRT1972623	hsa-miR-4741	CLIP-seq
MIRT919637	hsa-miR-4744	CLIP-seq
MIRT919638	hsa-miR-4747-5p	CLIP-seq
MIRT2511881	hsa-miR-4751	CLIP-seq
MIRT919572	hsa-miR-4767	CLIP-seq
MIRT919573	hsa-miR-4768-3p	CLIP-seq
MIRT2511882	hsa-miR-4769-3p	CLIP-seq
MIRT2511883	hsa-miR-4769-5p	CLIP-seq
MIRT919639	hsa-miR-4779	CLIP-seq
MIRT919574	hsa-miR-4786-5p	CLIP-seq
MIRT2511884	hsa-miR-4790-3p	CLIP-seq
MIRT919575	hsa-miR-4793-3p	CLIP-seq
MIRT2511885	hsa-miR-483-5p	CLIP-seq
MIRT919576	hsa-miR-485-5p	CLIP-seq
MIRT2511886	hsa-miR-489	CLIP-seq
MIRT919641	hsa-miR-491-5p	CLIP-seq
MIRT1972625	hsa-miR-5047	CLIP-seq
MIRT919577	hsa-miR-508-5p	CLIP-seq
MIRT2511887	hsa-miR-541	CLIP-seq
MIRT2208207	hsa-miR-548ad	CLIP-seq
MIRT919642	hsa-miR-548an	CLIP-seq
MIRT919598	hsa-miR-548c-3p	CLIP-seq
MIRT2208208	hsa-miR-553	CLIP-seq
MIRT919578	hsa-miR-566	CLIP-seq
MIRT919579	hsa-miR-585	CLIP-seq
MIRT2511888	hsa-miR-608	CLIP-seq
MIRT919644	hsa-miR-637	CLIP-seq
MIRT2511889	hsa-miR-644	CLIP-seq
MIRT919645	hsa-miR-648	CLIP-seq
MIRT919646	hsa-miR-651	CLIP-seq
MIRT2511890	hsa-miR-654-5p	CLIP-seq
MIRT919580	hsa-miR-661	CLIP-seq
MIRT919581	hsa-miR-663	CLIP-seq
MIRT1972627	hsa-miR-762	CLIP-seq
MIRT919582	hsa-miR-766	CLIP-seq
MIRT2511891	hsa-miR-885-3p	CLIP-seq
MIRT919583	hsa-miR-890	CLIP-seq
MIRT919584	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	IBA
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	IDA	1400360, 9639531, 36543799
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	IEA
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	IMP	1898726, 2019583, 8119939, 10807796, 15953014
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	TAS	1400360
GO:0005515	Function	Protein binding	IPI	23123858, 30021884, 32296183, 33961781, 35271311
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9207238
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	36543799
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	9639531
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005811	Component	Lipid droplet	IDA	14741744
GO:0005829	Component	Cytosol	IDA	9639531
GO:0005833	Component	Hemoglobin complex	TAS	1400360
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006809	Process	Nitric oxide biosynthetic process	IDA	24500710
GO:0008015	Process	Blood circulation	TAS	1400360
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:0016020	Component	Membrane	TAS	9207238
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	9639531
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0050421	Function	Nitrite reductase (NO-forming) activity	IDA	24500710
GO:0071949	Function	FAD binding	IBA
GO:0071949	Function	FAD binding	IDA	1400360, 15502298, 15953014, 20861021
GO:1903958	Component	Nitric-oxide synthase complex	IDA	24500710

Other IDs

• MIM: 613213
• HGNC: 2873
• e!Ensembl: ENSG00000100243

Protein

• UniProt ID: P00387
• Protein name: NADH-cytochrome b5 reductase 3 (B5R) (Cytochrome b5 reductase) (EC 1.6.2.2) (Diaphorase-1)
• Protein function: Catalyzes the reduction of two molecules of cytochrome b5 using NADH as the electron donor. {ECO:0000269|PubMed:10807796, ECO:0000269|PubMed:1400360, ECO:0000269|PubMed:15953014, ECO:0000269|PubMed:1898726, ECO:0000269|PubMed:2019583, ECO:000026
• PDB: 1UMK, 7THG, 7TNV, 7TSW, 7W3O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00970	FAD_binding_6	44 → 151	Oxidoreductase FAD-binding domain	Domain
  PF00175	NAD_binding_1	177 → 285	Oxidoreductase NAD-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 2]: Expressed at late stages of erythroid maturation. {ECO:0000269|PubMed:9639531}.
• Sequence:

  MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRF
  RFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPK
  FPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAG
  GTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLD
  RAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFV
  F

• Sequence length: 301

Pathways

KEGG:

Biosynthesis of various nucleotide sugars

Reactome:

Vitamin C (ascorbate) metabolism
Phase I - Functionalization of compounds
Neutrophil degranulation

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Central core myopathy	Likely pathogenic; Pathogenic	rs144071404	RCV004813125	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CYB5R3-related disorder	Likely pathogenic; Pathogenic	rs543277216, rs121965007	RCV003394253 RCV003415596	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of cytochrome-b5 reductase	Pathogenic; Likely pathogenic	rs1223829978, rs750819571, rs543277216, rs1161477501, rs794728013, rs61732609, rs121965016, rs121965017, rs763259379, rs1454054574, rs144071404, rs1601938489	RCV006258073 RCV001527675 RCV001780904 RCV003485758 RCV000986216 RCV003485516 RCV003330378 RCV005632150 RCV002262175 RCV003128217 RCV002498895 RCV000986217	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary methemoglobinemia	Pathogenic; Likely pathogenic	rs121965015, rs144071404	RCV003764501 RCV000601950	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
METHEMOGLOBINEMIA, TYPE I	Likely pathogenic; Pathogenic	rs121965007, rs121965008, rs121965015, rs121965016, rs121965017, rs1299251737, rs777361441, rs1601943088	RCV000000259 RCV000000260 RCV000000273 RCV000000274 RCV000000275 RCV001027444 RCV001027443 RCV001027442	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
METHEMOGLOBINEMIA, TYPE II	Pathogenic; Likely pathogenic	rs121965006, rs794728011, rs200872504, rs121965010, rs121965011, rs794728012, rs121965012, rs794728013, rs121965014, rs61732609	RCV000000258 RCV000000262 RCV000000263 RCV000000264 RCV000000265 RCV000000266 RCV000000267 RCV000000269 RCV000000271 RCV000000272	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CONGENITAL MYOPATHY-1A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL METHEMOGLOBINEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYANOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYB5R3 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE	—	ClinGen, GWAS catalog, HPO ClinGen, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	32711556, 37715200	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	32711556	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	32697331	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	32697331	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31821458		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	30614390	Associate	★☆☆☆☆ Found in Text Mining only
Biventricular hypertrophy	Biventricular hypertrophy	BEFREE	31821458		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25225034, 26351264		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25225034	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Familial Restrictive 1	Cardiomyopathy	Pubtator	9695975	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Methemoglobinemia	Congenital Methemoglobinemia	BEFREE	10807796, 10979206, 12756024, 1400360, 15813912, 15953014, 16310381, 1707593, 17964195, 18820099, 19579085, 3675585, 6768212, 7668255, 7718898, 8119939, 8639921, 9691146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Methemoglobinemia	Congenital Methemoglobinemia	CLINVAR_DG	11159544, 11295830, 12756024, 16310381, 21349748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Methemoglobinemia	Congenital Methemoglobinemia	ORPHANET_DG	18202104, 18820099		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Methemoglobinemia	Congenital methemoglobinemia	Pubtator	21349748, 2893546, 29482478, 30614390, 36837579, 36984616	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyanosis	Cyanosis	Pubtator	36837579	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	30309019		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38196829	Stimulate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	21447608, 25225034	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	22627575		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemoglobin M Disease	Hemoglobin M Disease	BEFREE	10807796, 12756024, 15813912, 15953014, 16310381, 18820099, 19579085, 7718898, 8639921		★☆☆☆☆ Found in Text Mining only
Hereditary methemoglobinemia	Hereditary Methemoglobinemia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	9695975	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	11159544	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	35283964	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31487266, 31821458		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	36749633	Inhibit	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30309019, 3675585		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	30309019		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	29845943	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25225034, 26351264		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25744544		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12226751, 17575049, 19082487, 26351264		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25225034		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	30309019, 3675585		★☆☆☆☆ Found in Text Mining only
Methemoglobinemia	Methemoglobinemia	BEFREE	12756024, 12821320, 14609324, 18820099, 469015, 496898, 6620333, 8427971, 9695975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methemoglobinemia	Methemoglobinemia	LHGDN	15297856, 15921385		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methemoglobinemia	Methemoglobinemia	GENOMICS_ENGLAND_DG	15921385		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methemoglobinemia	Methemoglobinemia	CTD_human_DG	16469290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methemoglobinemia	Methemoglobinemia	Pubtator	36837579	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methemoglobinemia	Methemoglobinemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methemoglobinemia, Type I	Methemoglobinemia	BEFREE	10874300, 10979206, 11159544, 1400360, 1707593, 17082011, 21349748		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methemoglobinemia, Type I	Methemoglobinemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methemoglobinemia, Type I	Methemoglobinemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methemoglobinemia, Type Ii	Methemoglobinemia	BEFREE	12821320, 21349748, 7718898, 8119939		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methemoglobinemia, Type Ii	Methemoglobinemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methemoglobinemia, Type Ii	Methemoglobinemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	6896729		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	30309019		★☆☆☆☆ Found in Text Mining only
NADH cytochrome B5 reductase deficiency	Nadh-Cytochrome B5 Reductase Deficiency	UNIPROT_DG	10807796, 12393396, 1400360, 15622768, 15953014, 1707593, 1898726, 7718898, 8119939, 9695975, 9886302		★☆☆☆☆ Found in Text Mining only
NADH cytochrome B5 reductase deficiency	Nadh-Cytochrome B5 Reductase Deficiency	GENOMICS_ENGLAND_DG	15921385		★☆☆☆☆ Found in Text Mining only
NADH cytochrome B5 reductase deficiency	Nadh-Cytochrome B5 Reductase Deficiency	BEFREE	29482478		★☆☆☆☆ Found in Text Mining only
NADH cytochrome B5 reductase deficiency	Nadh-Cytochrome B5 Reductase Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
NADH cytochrome B5 reductase deficiency	Nadh-Cytochrome B5 Reductase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nadh-Cytochrome B5 Reductase Deficiency, Type I	Nadh-Cytochrome B5 Reductase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nadh-Cytochrome B5 Reductase Deficiency, Type Ii	Nadh-Cytochrome B5 Reductase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26351264, 8614004		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30309019		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26611738	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	26611738	Associate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	8874222	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34660776	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	11948141		★☆☆☆☆ Found in Text Mining only
Temporal cortical atrophy	Temporal cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25744544		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25744544		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	11948141		★☆☆☆☆ Found in Text Mining only