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LBR (lamin B receptor)

Gene

3930

Lamin B receptor

LBR

C14SR, DHCR14B, LMN2R, PHA, PHASK, TDRD18

1q42.12

The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of t

Show/Hide all(16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs148541545	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200180113	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs374343844	T>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387906416	TAGAAGA>CTTCTAG	Pathogenic	Inframe indel, coding sequence variant, stop gained, non coding transcript variant
rs573510559	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587777171	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777172	C>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs754049402	C>T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs863223326	ACCA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs869312905	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs886037616	ATAAAA>-	Pathogenic	Intron variant
rs886037655	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057516045	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1131691304	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1236962991	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1558655670	ATG>TTTCTCATCA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all(668)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019632	hsa-miR-340-5p	Sequencing	20371350
MIRT020277	hsa-miR-130b-3p	Sequencing	20371350
MIRT021190	hsa-miR-186-5p	Sequencing	20371350
MIRT022092	hsa-miR-128-3p	Sequencing	20371350
MIRT025202	hsa-miR-181a-5p	Sequencing	20371350
MIRT026004	hsa-miR-148a-3p	Sequencing	20371350
MIRT026051	hsa-miR-196a-5p	Sequencing	20371350
MIRT027366	hsa-miR-101-3p	Sequencing	20371350
MIRT028716	hsa-miR-27a-3p	Sequencing	20371350
MIRT030542	hsa-miR-24-3p	Sequencing	20371350
MIRT031247	hsa-miR-19b-3p	Sequencing	20371350
MIRT032162	hsa-let-7d-5p	Sequencing	20371350
MIRT032443	hsa-let-7b-5p	Proteomics	18668040
MIRT047214	hsa-miR-182-5p	CLASH	23622248
MIRT046348	hsa-miR-23b-3p	CLASH	23622248
MIRT041836	hsa-miR-484	CLASH	23622248
MIRT039426	hsa-miR-421	CLASH	23622248
MIRT566967	hsa-miR-4280	PAR-CLIP	20371350
MIRT566966	hsa-miR-5586-5p	PAR-CLIP	20371350
MIRT566965	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT566964	hsa-miR-520h	PAR-CLIP	20371350
MIRT566963	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT566962	hsa-miR-4742-3p	PAR-CLIP	20371350
MIRT063747	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566961	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT566960	hsa-miR-107	PAR-CLIP	20371350
MIRT566959	hsa-miR-3161	PAR-CLIP	20371350
MIRT566958	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT566957	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT566956	hsa-miR-5047	PAR-CLIP	20371350
MIRT566955	hsa-miR-599	PAR-CLIP	20371350
MIRT566989	hsa-miR-3133	PAR-CLIP	20371350
MIRT021190	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT566988	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT566987	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT566986	hsa-miR-541-5p	PAR-CLIP	20371350
MIRT336416	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT063764	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT566985	hsa-miR-3671	PAR-CLIP	20371350
MIRT566984	hsa-miR-607	PAR-CLIP	20371350
MIRT566983	hsa-miR-603	PAR-CLIP	20371350
MIRT025202	hsa-miR-181a-5p	PAR-CLIP	20371350
MIRT566982	hsa-miR-181b-5p	PAR-CLIP	20371350
MIRT566981	hsa-miR-181c-5p	PAR-CLIP	20371350
MIRT566980	hsa-miR-181d-5p	PAR-CLIP	20371350
MIRT566979	hsa-miR-4262	PAR-CLIP	20371350
MIRT336389	hsa-miR-1278	PAR-CLIP	20371350
MIRT566978	hsa-miR-4307	PAR-CLIP	20371350
MIRT566977	hsa-miR-6504-3p	PAR-CLIP	20371350
MIRT566976	hsa-miR-4251	PAR-CLIP	20371350
MIRT566975	hsa-miR-589-5p	PAR-CLIP	20371350
MIRT566974	hsa-miR-146a-5p	PAR-CLIP	20371350
MIRT566973	hsa-miR-146b-5p	PAR-CLIP	20371350
MIRT566972	hsa-miR-7153-5p	PAR-CLIP	20371350
MIRT566971	hsa-miR-556-3p	PAR-CLIP	20371350
MIRT566970	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT566969	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT566968	hsa-miR-5088-5p	PAR-CLIP	20371350
MIRT566967	hsa-miR-4280	PAR-CLIP	20371350
MIRT566966	hsa-miR-5586-5p	PAR-CLIP	20371350
MIRT566965	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT566964	hsa-miR-520h	PAR-CLIP	20371350
MIRT566963	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT566962	hsa-miR-4742-3p	PAR-CLIP	20371350
MIRT063747	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566961	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT566960	hsa-miR-107	PAR-CLIP	20371350
MIRT566959	hsa-miR-3161	PAR-CLIP	20371350
MIRT566958	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT566957	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT566956	hsa-miR-5047	PAR-CLIP	20371350
MIRT566955	hsa-miR-599	PAR-CLIP	20371350
MIRT496937	hsa-miR-655-5p	PAR-CLIP	22291592
MIRT496936	hsa-miR-377-5p	PAR-CLIP	22291592
MIRT496935	hsa-miR-6086	PAR-CLIP	22291592
MIRT442418	hsa-miR-4729	PAR-CLIP	22100165
MIRT442417	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT185488	hsa-miR-5696	PAR-CLIP	22100165
MIRT185483	hsa-miR-579-3p	PAR-CLIP	22100165
MIRT185487	hsa-miR-664b-3p	PAR-CLIP	22100165
MIRT442415	hsa-miR-3658	PAR-CLIP	22100165
MIRT442416	hsa-miR-335-3p	PAR-CLIP	22100165
MIRT025202	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT566982	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT566981	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT566980	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT028716	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727321	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT019632	hsa-miR-340-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	34181735
MIRT566967	hsa-miR-4280	PAR-CLIP	20371350
MIRT566966	hsa-miR-5586-5p	PAR-CLIP	20371350
MIRT566965	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT566964	hsa-miR-520h	PAR-CLIP	20371350
MIRT566963	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT566962	hsa-miR-4742-3p	PAR-CLIP	20371350
MIRT063747	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566961	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT566960	hsa-miR-107	PAR-CLIP	20371350
MIRT566959	hsa-miR-3161	PAR-CLIP	20371350
MIRT566958	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT566957	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT566956	hsa-miR-5047	PAR-CLIP	20371350
MIRT566955	hsa-miR-599	PAR-CLIP	20371350
MIRT566989	hsa-miR-3133	PAR-CLIP	20371350
MIRT021190	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT566988	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT566987	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT566986	hsa-miR-541-5p	PAR-CLIP	20371350
MIRT336416	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT063764	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT566985	hsa-miR-3671	PAR-CLIP	20371350
MIRT566984	hsa-miR-607	PAR-CLIP	20371350
MIRT566983	hsa-miR-603	PAR-CLIP	20371350
MIRT025202	hsa-miR-181a-5p	PAR-CLIP	20371350
MIRT566982	hsa-miR-181b-5p	PAR-CLIP	20371350
MIRT566981	hsa-miR-181c-5p	PAR-CLIP	20371350
MIRT566980	hsa-miR-181d-5p	PAR-CLIP	20371350
MIRT566979	hsa-miR-4262	PAR-CLIP	20371350
MIRT336389	hsa-miR-1278	PAR-CLIP	20371350
MIRT566978	hsa-miR-4307	PAR-CLIP	20371350
MIRT566977	hsa-miR-6504-3p	PAR-CLIP	20371350
MIRT566976	hsa-miR-4251	PAR-CLIP	20371350
MIRT566975	hsa-miR-589-5p	PAR-CLIP	20371350
MIRT566974	hsa-miR-146a-5p	PAR-CLIP	20371350
MIRT566973	hsa-miR-146b-5p	PAR-CLIP	20371350
MIRT566972	hsa-miR-7153-5p	PAR-CLIP	20371350
MIRT566971	hsa-miR-556-3p	PAR-CLIP	20371350
MIRT566970	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT566969	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT566968	hsa-miR-5088-5p	PAR-CLIP	20371350
MIRT566967	hsa-miR-4280	PAR-CLIP	20371350
MIRT566966	hsa-miR-5586-5p	PAR-CLIP	20371350
MIRT566965	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT566964	hsa-miR-520h	PAR-CLIP	20371350
MIRT566963	hsa-miR-383-3p	PAR-CLIP	20371350
MIRT566962	hsa-miR-4742-3p	PAR-CLIP	20371350
MIRT063747	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566961	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT566960	hsa-miR-107	PAR-CLIP	20371350
MIRT566959	hsa-miR-3161	PAR-CLIP	20371350
MIRT566958	hsa-miR-7156-3p	PAR-CLIP	20371350
MIRT566957	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT566956	hsa-miR-5047	PAR-CLIP	20371350
MIRT566955	hsa-miR-599	PAR-CLIP	20371350
MIRT496937	hsa-miR-655-5p	PAR-CLIP	22291592
MIRT496936	hsa-miR-377-5p	PAR-CLIP	22291592
MIRT496935	hsa-miR-6086	PAR-CLIP	22291592
MIRT442418	hsa-miR-4729	PAR-CLIP	22100165
MIRT442417	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT185488	hsa-miR-5696	PAR-CLIP	22100165
MIRT185483	hsa-miR-579-3p	PAR-CLIP	22100165
MIRT185487	hsa-miR-664b-3p	PAR-CLIP	22100165
MIRT442415	hsa-miR-3658	PAR-CLIP	22100165
MIRT442416	hsa-miR-335-3p	PAR-CLIP	22100165
MIRT1105372	hsa-miR-101	CLIP-seq
MIRT1105373	hsa-miR-103a	CLIP-seq
MIRT1105374	hsa-miR-105	CLIP-seq
MIRT1105375	hsa-miR-1179	CLIP-seq
MIRT1105376	hsa-miR-1248	CLIP-seq
MIRT1105377	hsa-miR-128	CLIP-seq
MIRT1105378	hsa-miR-1283	CLIP-seq
MIRT1105379	hsa-miR-129-5p	CLIP-seq
MIRT1105380	hsa-miR-1301	CLIP-seq
MIRT1105381	hsa-miR-1305	CLIP-seq
MIRT1105382	hsa-miR-141	CLIP-seq
MIRT1105383	hsa-miR-200a	CLIP-seq
MIRT1105384	hsa-miR-208a	CLIP-seq
MIRT1105385	hsa-miR-208b	CLIP-seq
MIRT1105386	hsa-miR-217	CLIP-seq
MIRT1105387	hsa-miR-221	CLIP-seq
MIRT1105388	hsa-miR-222	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105390	hsa-miR-24	CLIP-seq
MIRT1105391	hsa-miR-27a	CLIP-seq
MIRT1105392	hsa-miR-27b	CLIP-seq
MIRT1105393	hsa-miR-3160-5p	CLIP-seq
MIRT1105394	hsa-miR-3163	CLIP-seq
MIRT1105395	hsa-miR-329	CLIP-seq
MIRT1105396	hsa-miR-3613-3p	CLIP-seq
MIRT1105397	hsa-miR-362-3p	CLIP-seq
MIRT1105398	hsa-miR-3662	CLIP-seq
MIRT1105399	hsa-miR-3941	CLIP-seq
MIRT1105400	hsa-miR-410	CLIP-seq
MIRT1105401	hsa-miR-412	CLIP-seq
MIRT1105402	hsa-miR-4284	CLIP-seq
MIRT1105403	hsa-miR-4291	CLIP-seq
MIRT1105404	hsa-miR-4310	CLIP-seq
MIRT1105405	hsa-miR-4432	CLIP-seq
MIRT1105406	hsa-miR-4470	CLIP-seq
MIRT1105407	hsa-miR-4477a	CLIP-seq
MIRT1105408	hsa-miR-448	CLIP-seq
MIRT1105409	hsa-miR-4694-3p	CLIP-seq
MIRT1105410	hsa-miR-4703-3p	CLIP-seq
MIRT1105411	hsa-miR-4747-3p	CLIP-seq
MIRT1105412	hsa-miR-4799-5p	CLIP-seq
MIRT1105413	hsa-miR-499-5p	CLIP-seq
MIRT1105414	hsa-miR-5096	CLIP-seq
MIRT1105415	hsa-miR-513a-5p	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105417	hsa-miR-522	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105419	hsa-miR-548a-5p	CLIP-seq
MIRT1105420	hsa-miR-548ab	CLIP-seq
MIRT1105421	hsa-miR-548ae	CLIP-seq
MIRT1105422	hsa-miR-548aj	CLIP-seq
MIRT1105423	hsa-miR-548ak	CLIP-seq
MIRT1105424	hsa-miR-548am	CLIP-seq
MIRT1105425	hsa-miR-548b-5p	CLIP-seq
MIRT1105426	hsa-miR-548c-5p	CLIP-seq
MIRT1105427	hsa-miR-548d-5p	CLIP-seq
MIRT1105428	hsa-miR-548h	CLIP-seq
MIRT1105429	hsa-miR-548i	CLIP-seq
MIRT1105430	hsa-miR-548j	CLIP-seq
MIRT1105431	hsa-miR-548n	CLIP-seq
MIRT1105432	hsa-miR-548v	CLIP-seq
MIRT1105433	hsa-miR-548w	CLIP-seq
MIRT1105434	hsa-miR-548x	CLIP-seq
MIRT1105435	hsa-miR-548y	CLIP-seq
MIRT1105436	hsa-miR-559	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105438	hsa-miR-889	CLIP-seq
MIRT1105439	hsa-let-7a	CLIP-seq
MIRT1105440	hsa-let-7b	CLIP-seq
MIRT1105441	hsa-let-7c	CLIP-seq
MIRT1105442	hsa-let-7d	CLIP-seq
MIRT1105443	hsa-let-7e	CLIP-seq
MIRT1105444	hsa-let-7f	CLIP-seq
MIRT1105445	hsa-let-7g	CLIP-seq
MIRT1105446	hsa-let-7i	CLIP-seq
MIRT1105372	hsa-miR-101	CLIP-seq
MIRT1105373	hsa-miR-103a	CLIP-seq
MIRT1105374	hsa-miR-105	CLIP-seq
MIRT1105375	hsa-miR-1179	CLIP-seq
MIRT1105447	hsa-miR-1183	CLIP-seq
MIRT1105448	hsa-miR-1207-3p	CLIP-seq
MIRT1105449	hsa-miR-1257	CLIP-seq
MIRT1105377	hsa-miR-128	CLIP-seq
MIRT1105378	hsa-miR-1283	CLIP-seq
MIRT1105450	hsa-miR-1284	CLIP-seq
MIRT1105451	hsa-miR-1286	CLIP-seq
MIRT1105380	hsa-miR-1301	CLIP-seq
MIRT1105452	hsa-miR-132	CLIP-seq
MIRT1105382	hsa-miR-141	CLIP-seq
MIRT1105453	hsa-miR-144	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105458	hsa-miR-186	CLIP-seq
MIRT1105383	hsa-miR-200a	CLIP-seq
MIRT1105459	hsa-miR-200b	CLIP-seq
MIRT1105460	hsa-miR-200c	CLIP-seq
MIRT1105461	hsa-miR-202	CLIP-seq
MIRT1105462	hsa-miR-2052	CLIP-seq
MIRT1105463	hsa-miR-2053	CLIP-seq
MIRT1105384	hsa-miR-208a	CLIP-seq
MIRT1105385	hsa-miR-208b	CLIP-seq
MIRT1105464	hsa-miR-212	CLIP-seq
MIRT1105386	hsa-miR-217	CLIP-seq
MIRT1105387	hsa-miR-221	CLIP-seq
MIRT1105388	hsa-miR-222	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105465	hsa-miR-23a	CLIP-seq
MIRT1105466	hsa-miR-23b	CLIP-seq
MIRT1105467	hsa-miR-23c	CLIP-seq
MIRT1105391	hsa-miR-27a	CLIP-seq
MIRT1105392	hsa-miR-27b	CLIP-seq
MIRT1105468	hsa-miR-2964a-3p	CLIP-seq
MIRT1105469	hsa-miR-300	CLIP-seq
MIRT1105470	hsa-miR-3074-3p	CLIP-seq
MIRT1105471	hsa-miR-3153	CLIP-seq
MIRT1105472	hsa-miR-323-3p	CLIP-seq
MIRT1105473	hsa-miR-338-5p	CLIP-seq
MIRT1105474	hsa-miR-342-3p	CLIP-seq
MIRT1105475	hsa-miR-3606	CLIP-seq
MIRT1105396	hsa-miR-3613-3p	CLIP-seq
MIRT1105476	hsa-miR-3647-3p	CLIP-seq
MIRT1105477	hsa-miR-3667-3p	CLIP-seq
MIRT1105478	hsa-miR-381	CLIP-seq
MIRT1105401	hsa-miR-412	CLIP-seq
MIRT1105479	hsa-miR-4270	CLIP-seq
MIRT1105480	hsa-miR-4282	CLIP-seq
MIRT1105481	hsa-miR-429	CLIP-seq
MIRT1105403	hsa-miR-4291	CLIP-seq
MIRT1105404	hsa-miR-4310	CLIP-seq
MIRT1105482	hsa-miR-4433	CLIP-seq
MIRT1105483	hsa-miR-4441	CLIP-seq
MIRT1105484	hsa-miR-4452	CLIP-seq
MIRT1105485	hsa-miR-4458	CLIP-seq
MIRT1105486	hsa-miR-4464	CLIP-seq
MIRT1105407	hsa-miR-4477a	CLIP-seq
MIRT1105408	hsa-miR-448	CLIP-seq
MIRT1105487	hsa-miR-4500	CLIP-seq
MIRT1105488	hsa-miR-4540	CLIP-seq
MIRT1105489	hsa-miR-4666-3p	CLIP-seq
MIRT1105490	hsa-miR-4698	CLIP-seq
MIRT1105491	hsa-miR-4719	CLIP-seq
MIRT1105492	hsa-miR-4722-5p	CLIP-seq
MIRT1105493	hsa-miR-4748	CLIP-seq
MIRT1105494	hsa-miR-4760-3p	CLIP-seq
MIRT1105495	hsa-miR-4804-3p	CLIP-seq
MIRT1105496	hsa-miR-496	CLIP-seq
MIRT1105413	hsa-miR-499-5p	CLIP-seq
MIRT1105497	hsa-miR-5095	CLIP-seq
MIRT1105414	hsa-miR-5096	CLIP-seq
MIRT1105415	hsa-miR-513a-5p	CLIP-seq
MIRT1105498	hsa-miR-513b	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105421	hsa-miR-548ae	CLIP-seq
MIRT1105422	hsa-miR-548aj	CLIP-seq
MIRT1105424	hsa-miR-548am	CLIP-seq
MIRT1105499	hsa-miR-548g	CLIP-seq
MIRT1105500	hsa-miR-548p	CLIP-seq
MIRT1105432	hsa-miR-548v	CLIP-seq
MIRT1105434	hsa-miR-548x	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105501	hsa-miR-885-3p	CLIP-seq
MIRT1105438	hsa-miR-889	CLIP-seq
MIRT1105502	hsa-miR-98	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105439	hsa-let-7a	CLIP-seq
MIRT1105440	hsa-let-7b	CLIP-seq
MIRT1105441	hsa-let-7c	CLIP-seq
MIRT1105442	hsa-let-7d	CLIP-seq
MIRT1105443	hsa-let-7e	CLIP-seq
MIRT1105444	hsa-let-7f	CLIP-seq
MIRT1105445	hsa-let-7g	CLIP-seq
MIRT1105446	hsa-let-7i	CLIP-seq
MIRT1105376	hsa-miR-1248	CLIP-seq
MIRT1105379	hsa-miR-129-5p	CLIP-seq
MIRT2029069	hsa-miR-142-5p	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105461	hsa-miR-202	CLIP-seq
MIRT1105386	hsa-miR-217	CLIP-seq
MIRT1105395	hsa-miR-329	CLIP-seq
MIRT2029070	hsa-miR-340	CLIP-seq
MIRT2029071	hsa-miR-346	CLIP-seq
MIRT1105397	hsa-miR-362-3p	CLIP-seq
MIRT1105399	hsa-miR-3941	CLIP-seq
MIRT2029072	hsa-miR-4288	CLIP-seq
MIRT1105403	hsa-miR-4291	CLIP-seq
MIRT1105404	hsa-miR-4310	CLIP-seq
MIRT1105484	hsa-miR-4452	CLIP-seq
MIRT1105485	hsa-miR-4458	CLIP-seq
MIRT1105406	hsa-miR-4470	CLIP-seq
MIRT2029073	hsa-miR-4484	CLIP-seq
MIRT1105487	hsa-miR-4500	CLIP-seq
MIRT2029074	hsa-miR-450b-5p	CLIP-seq
MIRT2029075	hsa-miR-4709-5p	CLIP-seq
MIRT1105411	hsa-miR-4747-3p	CLIP-seq
MIRT2029076	hsa-miR-495	CLIP-seq
MIRT1105414	hsa-miR-5096	CLIP-seq
MIRT2029077	hsa-miR-548an	CLIP-seq
MIRT1105500	hsa-miR-548p	CLIP-seq
MIRT2029078	hsa-miR-632	CLIP-seq
MIRT1105438	hsa-miR-889	CLIP-seq
MIRT1105502	hsa-miR-98	CLIP-seq
MIRT1105439	hsa-let-7a	CLIP-seq
MIRT1105440	hsa-let-7b	CLIP-seq
MIRT1105441	hsa-let-7c	CLIP-seq
MIRT1105442	hsa-let-7d	CLIP-seq
MIRT1105443	hsa-let-7e	CLIP-seq
MIRT1105444	hsa-let-7f	CLIP-seq
MIRT1105445	hsa-let-7g	CLIP-seq
MIRT1105446	hsa-let-7i	CLIP-seq
MIRT1105372	hsa-miR-101	CLIP-seq
MIRT1105373	hsa-miR-103a	CLIP-seq
MIRT1105374	hsa-miR-105	CLIP-seq
MIRT2260048	hsa-miR-10a	CLIP-seq
MIRT2260049	hsa-miR-10b	CLIP-seq
MIRT1105447	hsa-miR-1183	CLIP-seq
MIRT1105377	hsa-miR-128	CLIP-seq
MIRT1105378	hsa-miR-1283	CLIP-seq
MIRT1105450	hsa-miR-1284	CLIP-seq
MIRT2260050	hsa-miR-1290	CLIP-seq
MIRT1105380	hsa-miR-1301	CLIP-seq
MIRT2260051	hsa-miR-130a	CLIP-seq
MIRT2260052	hsa-miR-130b	CLIP-seq
MIRT1105382	hsa-miR-141	CLIP-seq
MIRT2029069	hsa-miR-142-5p	CLIP-seq
MIRT2260053	hsa-miR-148a	CLIP-seq
MIRT2260054	hsa-miR-148b	CLIP-seq
MIRT2260055	hsa-miR-152	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105383	hsa-miR-200a	CLIP-seq
MIRT1105459	hsa-miR-200b	CLIP-seq
MIRT1105460	hsa-miR-200c	CLIP-seq
MIRT1105461	hsa-miR-202	CLIP-seq
MIRT1105384	hsa-miR-208a	CLIP-seq
MIRT1105385	hsa-miR-208b	CLIP-seq
MIRT1105387	hsa-miR-221	CLIP-seq
MIRT1105388	hsa-miR-222	CLIP-seq
MIRT2260056	hsa-miR-223	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105465	hsa-miR-23a	CLIP-seq
MIRT1105466	hsa-miR-23b	CLIP-seq
MIRT1105467	hsa-miR-23c	CLIP-seq
MIRT1105391	hsa-miR-27a	CLIP-seq
MIRT1105392	hsa-miR-27b	CLIP-seq
MIRT1105469	hsa-miR-300	CLIP-seq
MIRT2260057	hsa-miR-301a	CLIP-seq
MIRT2260058	hsa-miR-301b	CLIP-seq
MIRT2260059	hsa-miR-3065-5p	CLIP-seq
MIRT1105394	hsa-miR-3163	CLIP-seq
MIRT2260060	hsa-miR-3182	CLIP-seq
MIRT2260061	hsa-miR-337-3p	CLIP-seq
MIRT1105473	hsa-miR-338-5p	CLIP-seq
MIRT2260062	hsa-miR-339-5p	CLIP-seq
MIRT2029070	hsa-miR-340	CLIP-seq
MIRT1105474	hsa-miR-342-3p	CLIP-seq
MIRT2029071	hsa-miR-346	CLIP-seq
MIRT1105475	hsa-miR-3606	CLIP-seq
MIRT1105396	hsa-miR-3613-3p	CLIP-seq
MIRT2260063	hsa-miR-3617	CLIP-seq
MIRT2260064	hsa-miR-3666	CLIP-seq
MIRT1105478	hsa-miR-381	CLIP-seq
MIRT2260065	hsa-miR-3924	CLIP-seq
MIRT2260066	hsa-miR-3942-3p	CLIP-seq
MIRT1105400	hsa-miR-410	CLIP-seq
MIRT1105401	hsa-miR-412	CLIP-seq
MIRT2029072	hsa-miR-4288	CLIP-seq
MIRT1105481	hsa-miR-429	CLIP-seq
MIRT2260067	hsa-miR-4295	CLIP-seq
MIRT1105405	hsa-miR-4432	CLIP-seq
MIRT1105485	hsa-miR-4458	CLIP-seq
MIRT1105406	hsa-miR-4470	CLIP-seq
MIRT1105407	hsa-miR-4477a	CLIP-seq
MIRT2029073	hsa-miR-4484	CLIP-seq
MIRT1105487	hsa-miR-4500	CLIP-seq
MIRT2260068	hsa-miR-4502	CLIP-seq
MIRT2260069	hsa-miR-4503	CLIP-seq
MIRT2260070	hsa-miR-4519	CLIP-seq
MIRT2260071	hsa-miR-454	CLIP-seq
MIRT1105488	hsa-miR-4540	CLIP-seq
MIRT2260072	hsa-miR-4652-3p	CLIP-seq
MIRT1105489	hsa-miR-4666-3p	CLIP-seq
MIRT2260073	hsa-miR-4697-3p	CLIP-seq
MIRT1105490	hsa-miR-4698	CLIP-seq
MIRT2260074	hsa-miR-4699-3p	CLIP-seq
MIRT1105410	hsa-miR-4703-3p	CLIP-seq
MIRT2260075	hsa-miR-4725-5p	CLIP-seq
MIRT2260076	hsa-miR-483-3p	CLIP-seq
MIRT2029076	hsa-miR-495	CLIP-seq
MIRT1105413	hsa-miR-499-5p	CLIP-seq
MIRT2260077	hsa-miR-504	CLIP-seq
MIRT1105497	hsa-miR-5095	CLIP-seq
MIRT1105415	hsa-miR-513a-5p	CLIP-seq
MIRT1105498	hsa-miR-513b	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT2260078	hsa-miR-520g	CLIP-seq
MIRT1105417	hsa-miR-522	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT2260079	hsa-miR-548ac	CLIP-seq
MIRT1105421	hsa-miR-548ae	CLIP-seq
MIRT1105422	hsa-miR-548aj	CLIP-seq
MIRT1105424	hsa-miR-548am	CLIP-seq
MIRT2029077	hsa-miR-548an	CLIP-seq
MIRT2260080	hsa-miR-548c-3p	CLIP-seq
MIRT2260081	hsa-miR-548d-3p	CLIP-seq
MIRT1105500	hsa-miR-548p	CLIP-seq
MIRT1105432	hsa-miR-548v	CLIP-seq
MIRT1105434	hsa-miR-548x	CLIP-seq
MIRT2260082	hsa-miR-548z	CLIP-seq
MIRT2260083	hsa-miR-561	CLIP-seq
MIRT2260084	hsa-miR-579	CLIP-seq
MIRT2029078	hsa-miR-632	CLIP-seq
MIRT2260085	hsa-miR-641	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105502	hsa-miR-98	CLIP-seq
MIRT1105373	hsa-miR-103a	CLIP-seq
MIRT1105450	hsa-miR-1284	CLIP-seq
MIRT1105380	hsa-miR-1301	CLIP-seq
MIRT1105381	hsa-miR-1305	CLIP-seq
MIRT1105390	hsa-miR-24	CLIP-seq
MIRT1105469	hsa-miR-300	CLIP-seq
MIRT1105473	hsa-miR-338-5p	CLIP-seq
MIRT1105478	hsa-miR-381	CLIP-seq
MIRT1105400	hsa-miR-410	CLIP-seq
MIRT1105402	hsa-miR-4284	CLIP-seq
MIRT1105489	hsa-miR-4666-3p	CLIP-seq
MIRT1105409	hsa-miR-4694-3p	CLIP-seq
MIRT1105412	hsa-miR-4799-5p	CLIP-seq
MIRT1105417	hsa-miR-522	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105372	hsa-miR-101	CLIP-seq
MIRT1105374	hsa-miR-105	CLIP-seq
MIRT1105375	hsa-miR-1179	CLIP-seq
MIRT1105447	hsa-miR-1183	CLIP-seq
MIRT1105377	hsa-miR-128	CLIP-seq
MIRT2560307	hsa-miR-1287	CLIP-seq
MIRT1105381	hsa-miR-1305	CLIP-seq
MIRT1105382	hsa-miR-141	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105458	hsa-miR-186	CLIP-seq
MIRT1105383	hsa-miR-200a	CLIP-seq
MIRT1105459	hsa-miR-200b	CLIP-seq
MIRT1105460	hsa-miR-200c	CLIP-seq
MIRT1105384	hsa-miR-208a	CLIP-seq
MIRT1105385	hsa-miR-208b	CLIP-seq
MIRT1105386	hsa-miR-217	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105465	hsa-miR-23a	CLIP-seq
MIRT1105466	hsa-miR-23b	CLIP-seq
MIRT1105467	hsa-miR-23c	CLIP-seq
MIRT1105390	hsa-miR-24	CLIP-seq
MIRT1105391	hsa-miR-27a	CLIP-seq
MIRT1105392	hsa-miR-27b	CLIP-seq
MIRT2560308	hsa-miR-3135b	CLIP-seq
MIRT1105394	hsa-miR-3163	CLIP-seq
MIRT1105395	hsa-miR-329	CLIP-seq
MIRT1105474	hsa-miR-342-3p	CLIP-seq
MIRT1105396	hsa-miR-3613-3p	CLIP-seq
MIRT1105397	hsa-miR-362-3p	CLIP-seq
MIRT1105398	hsa-miR-3662	CLIP-seq
MIRT2260065	hsa-miR-3924	CLIP-seq
MIRT1105399	hsa-miR-3941	CLIP-seq
MIRT1105400	hsa-miR-410	CLIP-seq
MIRT1105401	hsa-miR-412	CLIP-seq
MIRT1105480	hsa-miR-4282	CLIP-seq
MIRT1105402	hsa-miR-4284	CLIP-seq
MIRT1105481	hsa-miR-429	CLIP-seq
MIRT2560309	hsa-miR-433	CLIP-seq
MIRT1105405	hsa-miR-4432	CLIP-seq
MIRT1105406	hsa-miR-4470	CLIP-seq
MIRT1105407	hsa-miR-4477a	CLIP-seq
MIRT1105408	hsa-miR-448	CLIP-seq
MIRT1105409	hsa-miR-4694-3p	CLIP-seq
MIRT1105490	hsa-miR-4698	CLIP-seq
MIRT2260074	hsa-miR-4699-3p	CLIP-seq
MIRT1105410	hsa-miR-4703-3p	CLIP-seq
MIRT1105412	hsa-miR-4799-5p	CLIP-seq
MIRT1105413	hsa-miR-499-5p	CLIP-seq
MIRT1105415	hsa-miR-513a-5p	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105417	hsa-miR-522	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105419	hsa-miR-548a-5p	CLIP-seq
MIRT2560310	hsa-miR-548aa	CLIP-seq
MIRT1105420	hsa-miR-548ab	CLIP-seq
MIRT1105421	hsa-miR-548ae	CLIP-seq
MIRT1105422	hsa-miR-548aj	CLIP-seq
MIRT1105423	hsa-miR-548ak	CLIP-seq
MIRT1105424	hsa-miR-548am	CLIP-seq
MIRT1105425	hsa-miR-548b-5p	CLIP-seq
MIRT2260080	hsa-miR-548c-3p	CLIP-seq
MIRT1105426	hsa-miR-548c-5p	CLIP-seq
MIRT1105427	hsa-miR-548d-5p	CLIP-seq
MIRT1105428	hsa-miR-548h	CLIP-seq
MIRT1105429	hsa-miR-548i	CLIP-seq
MIRT1105430	hsa-miR-548j	CLIP-seq
MIRT1105431	hsa-miR-548n	CLIP-seq
MIRT2560311	hsa-miR-548u	CLIP-seq
MIRT1105433	hsa-miR-548w	CLIP-seq
MIRT1105434	hsa-miR-548x	CLIP-seq
MIRT1105435	hsa-miR-548y	CLIP-seq
MIRT1105436	hsa-miR-559	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq
MIRT1105372	hsa-miR-101	CLIP-seq
MIRT1105374	hsa-miR-105	CLIP-seq
MIRT1105375	hsa-miR-1179	CLIP-seq
MIRT1105447	hsa-miR-1183	CLIP-seq
MIRT1105377	hsa-miR-128	CLIP-seq
MIRT2560307	hsa-miR-1287	CLIP-seq
MIRT1105381	hsa-miR-1305	CLIP-seq
MIRT1105382	hsa-miR-141	CLIP-seq
MIRT1105454	hsa-miR-181a	CLIP-seq
MIRT1105455	hsa-miR-181b	CLIP-seq
MIRT1105456	hsa-miR-181c	CLIP-seq
MIRT1105457	hsa-miR-181d	CLIP-seq
MIRT1105458	hsa-miR-186	CLIP-seq
MIRT1105383	hsa-miR-200a	CLIP-seq
MIRT1105459	hsa-miR-200b	CLIP-seq
MIRT1105460	hsa-miR-200c	CLIP-seq
MIRT1105384	hsa-miR-208a	CLIP-seq
MIRT1105385	hsa-miR-208b	CLIP-seq
MIRT1105386	hsa-miR-217	CLIP-seq
MIRT1105389	hsa-miR-224	CLIP-seq
MIRT1105465	hsa-miR-23a	CLIP-seq
MIRT1105466	hsa-miR-23b	CLIP-seq
MIRT1105467	hsa-miR-23c	CLIP-seq
MIRT1105390	hsa-miR-24	CLIP-seq
MIRT1105391	hsa-miR-27a	CLIP-seq
MIRT1105392	hsa-miR-27b	CLIP-seq
MIRT2683802	hsa-miR-302f	CLIP-seq
MIRT1105470	hsa-miR-3074-3p	CLIP-seq
MIRT2560308	hsa-miR-3135b	CLIP-seq
MIRT2683803	hsa-miR-3143	CLIP-seq
MIRT1105394	hsa-miR-3163	CLIP-seq
MIRT2260060	hsa-miR-3182	CLIP-seq
MIRT2683804	hsa-miR-320a	CLIP-seq
MIRT2683805	hsa-miR-320b	CLIP-seq
MIRT2683806	hsa-miR-320c	CLIP-seq
MIRT2683807	hsa-miR-320d	CLIP-seq
MIRT1105395	hsa-miR-329	CLIP-seq
MIRT1105474	hsa-miR-342-3p	CLIP-seq
MIRT1105396	hsa-miR-3613-3p	CLIP-seq
MIRT1105397	hsa-miR-362-3p	CLIP-seq
MIRT1105398	hsa-miR-3662	CLIP-seq
MIRT2683808	hsa-miR-3672	CLIP-seq
MIRT2260065	hsa-miR-3924	CLIP-seq
MIRT1105399	hsa-miR-3941	CLIP-seq
MIRT1105400	hsa-miR-410	CLIP-seq
MIRT1105401	hsa-miR-412	CLIP-seq
MIRT1105480	hsa-miR-4282	CLIP-seq
MIRT1105402	hsa-miR-4284	CLIP-seq
MIRT1105481	hsa-miR-429	CLIP-seq
MIRT2560309	hsa-miR-433	CLIP-seq
MIRT2683809	hsa-miR-4429	CLIP-seq
MIRT1105405	hsa-miR-4432	CLIP-seq
MIRT1105406	hsa-miR-4470	CLIP-seq
MIRT1105407	hsa-miR-4477a	CLIP-seq
MIRT1105408	hsa-miR-448	CLIP-seq
MIRT2683810	hsa-miR-4639-5p	CLIP-seq
MIRT2260072	hsa-miR-4652-3p	CLIP-seq
MIRT1105409	hsa-miR-4694-3p	CLIP-seq
MIRT1105490	hsa-miR-4698	CLIP-seq
MIRT2260074	hsa-miR-4699-3p	CLIP-seq
MIRT1105412	hsa-miR-4799-5p	CLIP-seq
MIRT2683811	hsa-miR-4803	CLIP-seq
MIRT2683812	hsa-miR-491-3p	CLIP-seq
MIRT1105413	hsa-miR-499-5p	CLIP-seq
MIRT2683813	hsa-miR-501-3p	CLIP-seq
MIRT2683814	hsa-miR-502-3p	CLIP-seq
MIRT1105415	hsa-miR-513a-5p	CLIP-seq
MIRT1105416	hsa-miR-520d-5p	CLIP-seq
MIRT1105417	hsa-miR-522	CLIP-seq
MIRT1105418	hsa-miR-524-5p	CLIP-seq
MIRT1105419	hsa-miR-548a-5p	CLIP-seq
MIRT2560310	hsa-miR-548aa	CLIP-seq
MIRT1105420	hsa-miR-548ab	CLIP-seq
MIRT1105421	hsa-miR-548ae	CLIP-seq
MIRT1105422	hsa-miR-548aj	CLIP-seq
MIRT1105423	hsa-miR-548ak	CLIP-seq
MIRT1105424	hsa-miR-548am	CLIP-seq
MIRT1105425	hsa-miR-548b-5p	CLIP-seq
MIRT2260080	hsa-miR-548c-3p	CLIP-seq
MIRT1105426	hsa-miR-548c-5p	CLIP-seq
MIRT1105427	hsa-miR-548d-5p	CLIP-seq
MIRT1105428	hsa-miR-548h	CLIP-seq
MIRT1105429	hsa-miR-548i	CLIP-seq
MIRT1105430	hsa-miR-548j	CLIP-seq
MIRT1105431	hsa-miR-548n	CLIP-seq
MIRT2560311	hsa-miR-548u	CLIP-seq
MIRT1105433	hsa-miR-548w	CLIP-seq
MIRT1105434	hsa-miR-548x	CLIP-seq
MIRT1105435	hsa-miR-548y	CLIP-seq
MIRT1105436	hsa-miR-559	CLIP-seq
MIRT1105437	hsa-miR-656	CLIP-seq

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	8663349, 26009488, 32296183
GO:0005521	Function	Lamin binding	TAS	8157662
GO:0005634	Component	Nucleus	IDA	21327084
GO:0005635	Component	Nuclear envelope	TAS
GO:0005637	Component	Nuclear inner membrane	IBA	21873635
GO:0005639	Component	Integral component of nuclear inner membrane	TAS	8157662
GO:0005737	Component	Cytoplasm	IDA	21327084
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	21327084
GO:0006695	Process	Cholesterol biosynthetic process	IDA	16784888
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IMP	27336722
GO:0006695	Process	Cholesterol biosynthetic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IDA	15698635
GO:0016126	Process	Sterol biosynthetic process	IBA	21873635
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IBA	21873635
GO:0030223	Process	Neutrophil differentiation	ISS
GO:0031965	Component	Nuclear membrane	IDA
GO:0050613	Function	Delta14-sterol reductase activity	IDA	9630650, 16784888
GO:0050613	Function	Delta14-sterol reductase activity	IMP	12618959, 21327084, 27336722
GO:0050613	Function	Delta14-sterol reductase activity	TAS
GO:0070087	Function	Chromo shadow domain binding	IPI	15882967
GO:0070402	Function	NADPH binding	IMP	27336722

MIM	HGNC	e!Ensembl
600024	6518	ENSG00000143815

Protein

UniProt ID

Q14739

Protein name

Delta(14)-sterol reductase LBR (Delta-14-SR) (EC 1.3.1.70) (3-beta-hydroxysterol Delta (14)-reductase) (C-14 sterol reductase) (C14SR) (Integral nuclear envelope inner membrane protein) (LMN2R) (Lamin-B receptor) (Sterol C14-reductase)

Protein function

Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722, PubMed:9630650). Plays a critical role i

PDB

2DIG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09465	LBR_tudor	1 → 55	Lamin-B receptor of TUDOR domain	Domain
PF01222	ERG4_ERG24	183 → 615	Ergosterol biosynthesis ERG4/ERG24 family	Family

Sequence

MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDGTELELKENDIKPLTSF
RQRKGGSTSSSPSRRRGSRSRSRSRSPGRPPKSARRSASASHQADIKEARREVEVKLTPL
ILKPFGNSISRYNGEPEHIERNDAPHKNTQEKFSLSQESSYIATQYSLRPRREEVKLKEI
DSKEEKYVAKELAVRTFEVTPIRAKDLEFGGVPGVFLIMFGLPVFLFLLLLMCKQKDPSL
LNFPPPLPALYELWETRVFGVYLLWFLIQVLFYLLPIGKVVEGTPLIDGRRLKYRLNGFY
AFILTSAVIGTSLFQGVEFHYVYSHFLQFALAATVFCVVLSVYLYMRSLKAPRNDLSPAS
SGNAVYDFFIGRELNPRIGTFDLKYFCELRPGLIGWVVINLVMLLAEMKIQDRAVPSLAM
ILVNSFQLLYVVDALWNEEALLTTMDIIHDGFGFMLAFGDLVWVPFIYSFQAFYLVSHPN
EVSWPMASLIIVLKLCGYVIFRGANSQKNAFRKNPSDPKLAHLKTIHTSTGKNLLVSGWW
GFVRHPNYLGDLIMALAWSLPCGFNHILPYFYIIYFTMLLVHREARDEYHCKKKYGVAWE
KYCQRVPYRIFPYIY

Sequence length

615

Interactions

View interactions

	KEGG		Reactome
	Steroid biosynthesis Metabolic pathways Cytoskeleton in muscle cells		Cholesterol biosynthesis Initiation of Nuclear Envelope (NE) Reformation Regulation of MECP2 expression and activity

Associated diseases

Show/Hide Causal Diseases (10)

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Greenberg dysplasia	HEM dysplasia, Greenberg dysplasia	rs387906416, rs587777171, rs587777172, rs863223326, rs886037655, rs374343844, rs869312905, rs573510559	27336722, 8213919, 18382993, 27830109, 23824842, 12618959, 29068549, 21327084
Hydrops fetalis	Hydrops Fetalis, Non-Immune	rs28935477, rs1131691986
Hyperbilirubinemia	Hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091
Jeune thoracic dystrophy	Jeune thoracic dystrophy	rs137853025, rs137853028, rs137853030, rs137853031, rs137853032, rs431905500, rs201188361, rs587776909, rs397514637, rs431905507, rs199952377, rs431905521, rs587777352, rs750396637, rs755338872, rs794727595, rs776315442, rs780539887, rs864622358, rs864622111, rs200460601, rs755883373, rs878852996, rs754919042, rs770185023, rs201858128, rs771487311, rs773858865, rs1043384862, rs562139820, rs771003300, rs754049402, rs552436294, rs943680446, rs746068882, rs368631447, rs1202784860, rs1236962991, rs1453462442, rs1553316926, rs776631281, rs764906529, rs1553753582, rs372576954, rs1553905326, rs748656635, rs377160857, rs1215108056, rs772599282, rs1191056931, rs745603321, rs1553815019, rs1553836165, rs761707323, rs1554770453, rs1554771175, rs555811074, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555049536, rs1555051720, rs745870321, rs1555052511, rs1555052524, rs1555053115, rs901629870, rs762666243, rs1555056464, rs1380132788, rs1555057838, rs753662982, rs747348765, rs1555063811, rs537704873, rs1350329646, rs758155107, rs1196317554, rs747857715, rs969015057, rs1555068270, rs1555068636, rs1555070451, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1218198013, rs780600124, rs1261505725, rs200710887, rs1555081345, rs181011657, rs759649136, rs1555098222, rs1453448143, rs766816050, rs368654019, rs1555052497, rs1223907858, rs759549373, rs1555096711, rs200335504, rs1555038664, rs747165335, rs1565311145, rs1565317399, rs1260978141, rs1565329461, rs767846762, rs376892534, rs1566883760, rs1309577378, rs1565423740, rs1565371538, rs1565359085, rs1159774355, rs1291197898, rs751891969, rs1565390180, rs1558104145, rs1401798992, rs561778796, rs1266078341, rs1565368793, rs373536938, rs765454943, rs1160036887, rs767206815, rs372878677
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	29068549
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Show/Hide Unknown Diseases (35)

Unknown
Disease name	Disease term	dbSNP ID	References
Biliary cirrhosis	Biliary cirrhosis
Calcification of trachea	Calcification of trachea
Calcinosis cutis	Calcinosis cutis
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507
Congenital exomphalos	Congenital exomphalos
Pulmonary hypoplasia	Congenital hypoplasia of lung	rs1569032634
Congenital malrotation of intestine	Congenital malrotation of intestine
Congenital omphalocele	Congenital omphalocele
Defect of skull ossification	Defect of skull ossification
Dysphagia	Deglutition Disorders
Encephalitis	Encephalitis
Foot polydactyly	Postaxial foot polydactyly
Frontal bossing	Frontal bossing
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Hepatic calcification	Hepatic calcification
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Keratoconjunctivitis sicca	Keratoconjunctivitis Sicca
Laryngeal calcification	Laryngeal calcification
Cystic hygroma	Lymphangioma, Cystic
Mesomelia	Mesomelia		29068549
Micrognathism	Micrognathism
Micromelia	Micromelia
Otitis media	Recurrent otitis media	rs601338, rs1047781, rs1800028
Pelger-huet anomaly	Pelger-Huet Anomaly		14617022, 26938784, 23824842
Pleural effusion	Pleural effusion disorder
Raynaud phenomenon	Raynaud Phenomenon
Regressive spondylometaphyseal dysplasia	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES, Regressive spondylometaphyseal dysplasia		21327105, 23824842, 19940018, 25348816, 12490533
Reynolds syndrome	Reynolds syndrome		20522425, 23824842
Rhizomelia	Rhizomelia		29068549
Sclerodactyly	Sclerodactyly
Scleroderma	Scleroderma, Systemic Scleroderma
Short-limb dwarfism	Severe short-limb dwarfism
Spade-like hand	Spade-like hand
Strabismus	Strabismus
Postaxial hand polydactyly	Ulnar polydactyly of fingers

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