BAZ2B (bromodomain adjacent to zinc finger domain 2B)

Gene

• Entrez ID: 29994
• Gene name: Bromodomain adjacent to zinc finger domain 2B
• Gene symbol: BAZ2B
• Synonyms (NCBI Gene): WALp4
• Chromosome: 2
• Chromosome location: 2q24.2
• Summary: This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs767318278	G>A,C	Pathogenic, uncertain-significance	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs780189423	G>A,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs1575883384	T>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1576949430	C>T	Pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016898	hsa-miR-335-5p	Microarray	18185580
MIRT042447	hsa-miR-424-5p	CLASH	23622248
MIRT670222	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT670221	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT670218	hsa-miR-4284	HITS-CLIP	23824327
MIRT670217	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670215	hsa-miR-7977	HITS-CLIP	23824327
MIRT670214	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT670213	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT670222	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT670221	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT670220	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT670219	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT670218	hsa-miR-4284	HITS-CLIP	23824327
MIRT670217	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670216	hsa-miR-3178	HITS-CLIP	23824327
MIRT670215	hsa-miR-7977	HITS-CLIP	23824327
MIRT670214	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT670213	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT670222	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT670221	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT670220	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT670219	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT670218	hsa-miR-4284	HITS-CLIP	23824327
MIRT670217	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670216	hsa-miR-3178	HITS-CLIP	23824327
MIRT670215	hsa-miR-7977	HITS-CLIP	23824327
MIRT670214	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT670213	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT549231	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT549230	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT549229	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT549228	hsa-miR-302f	PAR-CLIP	21572407
MIRT549227	hsa-miR-892c-5p	PAR-CLIP	21572407
MIRT549226	hsa-miR-506-5p	PAR-CLIP	21572407
MIRT549225	hsa-miR-4276	PAR-CLIP	21572407
MIRT549224	hsa-miR-599	PAR-CLIP	21572407
MIRT481029	hsa-miR-3145-5p	PAR-CLIP	23592263
MIRT481028	hsa-miR-508-5p	PAR-CLIP	23592263
MIRT481027	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT481025	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT481026	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT481024	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT481023	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT481022	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT481021	hsa-miR-5186	PAR-CLIP	23592263
MIRT481020	hsa-miR-4537	PAR-CLIP	23592263
MIRT481019	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT481018	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT481016	hsa-miR-4327	PAR-CLIP	23592263
MIRT481017	hsa-miR-500a-3p	PAR-CLIP	23592263
MIRT481015	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT481014	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT441123	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT441122	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT441120	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT441123	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT441122	hsa-miR-377-5p	HITS-CLIP	24374217
MIRT441120	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT670222	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT670221	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT670218	hsa-miR-4284	HITS-CLIP	23824327
MIRT670217	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670215	hsa-miR-7977	HITS-CLIP	23824327
MIRT670214	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT670213	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT670222	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT670221	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT670220	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT670219	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT670218	hsa-miR-4284	HITS-CLIP	23824327
MIRT670217	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670216	hsa-miR-3178	HITS-CLIP	23824327
MIRT670215	hsa-miR-7977	HITS-CLIP	23824327
MIRT670214	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT670213	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT670222	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT670221	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT670220	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT670219	hsa-miR-4743-5p	HITS-CLIP	23824327
MIRT670218	hsa-miR-4284	HITS-CLIP	23824327
MIRT670217	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670216	hsa-miR-3178	HITS-CLIP	23824327
MIRT670215	hsa-miR-7977	HITS-CLIP	23824327
MIRT670214	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT670213	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT549231	hsa-miR-148a-3p	PAR-CLIP	21572407
MIRT549230	hsa-miR-148b-3p	PAR-CLIP	21572407
MIRT549229	hsa-miR-152-3p	PAR-CLIP	21572407
MIRT549228	hsa-miR-302f	PAR-CLIP	21572407
MIRT549227	hsa-miR-892c-5p	PAR-CLIP	21572407
MIRT549226	hsa-miR-506-5p	PAR-CLIP	21572407
MIRT549225	hsa-miR-4276	PAR-CLIP	21572407
MIRT549224	hsa-miR-599	PAR-CLIP	21572407
MIRT481029	hsa-miR-3145-5p	PAR-CLIP	23592263
MIRT481028	hsa-miR-508-5p	PAR-CLIP	23592263
MIRT481027	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT481025	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT481026	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT481024	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT481023	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT481022	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT481021	hsa-miR-5186	PAR-CLIP	23592263
MIRT481020	hsa-miR-4537	PAR-CLIP	23592263
MIRT481019	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT481018	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT481016	hsa-miR-4327	PAR-CLIP	23592263
MIRT481017	hsa-miR-500a-3p	PAR-CLIP	23592263
MIRT481015	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT481014	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT816538	hsa-miR-101	CLIP-seq
MIRT816539	hsa-miR-103a	CLIP-seq
MIRT816540	hsa-miR-107	CLIP-seq
MIRT816541	hsa-miR-124	CLIP-seq
MIRT816542	hsa-miR-1260	CLIP-seq
MIRT816543	hsa-miR-1260b	CLIP-seq
MIRT816544	hsa-miR-1264	CLIP-seq
MIRT816545	hsa-miR-1291	CLIP-seq
MIRT816546	hsa-miR-1295	CLIP-seq
MIRT816547	hsa-miR-138	CLIP-seq
MIRT816548	hsa-miR-139-5p	CLIP-seq
MIRT816549	hsa-miR-144	CLIP-seq
MIRT816550	hsa-miR-148a	CLIP-seq
MIRT816551	hsa-miR-148b	CLIP-seq
MIRT816552	hsa-miR-152	CLIP-seq
MIRT816553	hsa-miR-188-3p	CLIP-seq
MIRT816554	hsa-miR-1973	CLIP-seq
MIRT816555	hsa-miR-200b	CLIP-seq
MIRT816556	hsa-miR-200c	CLIP-seq
MIRT816557	hsa-miR-203	CLIP-seq
MIRT816558	hsa-miR-210	CLIP-seq
MIRT816559	hsa-miR-221	CLIP-seq
MIRT816560	hsa-miR-222	CLIP-seq
MIRT816561	hsa-miR-2276	CLIP-seq
MIRT816562	hsa-miR-23a	CLIP-seq
MIRT816563	hsa-miR-23b	CLIP-seq
MIRT816564	hsa-miR-23c	CLIP-seq
MIRT816565	hsa-miR-297	CLIP-seq
MIRT816566	hsa-miR-30a	CLIP-seq
MIRT816567	hsa-miR-30b	CLIP-seq
MIRT816568	hsa-miR-30c	CLIP-seq
MIRT816569	hsa-miR-30d	CLIP-seq
MIRT816570	hsa-miR-30e	CLIP-seq
MIRT816571	hsa-miR-3119	CLIP-seq
MIRT816572	hsa-miR-3121-3p	CLIP-seq
MIRT816573	hsa-miR-3140-3p	CLIP-seq
MIRT816574	hsa-miR-3145-3p	CLIP-seq
MIRT816575	hsa-miR-3153	CLIP-seq
MIRT816576	hsa-miR-3156-3p	CLIP-seq
MIRT816577	hsa-miR-338-5p	CLIP-seq
MIRT816578	hsa-miR-346	CLIP-seq
MIRT816579	hsa-miR-3662	CLIP-seq
MIRT816580	hsa-miR-3713	CLIP-seq
MIRT816581	hsa-miR-3714	CLIP-seq
MIRT816582	hsa-miR-380	CLIP-seq
MIRT816583	hsa-miR-3907	CLIP-seq
MIRT816584	hsa-miR-3910	CLIP-seq
MIRT816585	hsa-miR-3924	CLIP-seq
MIRT816586	hsa-miR-410	CLIP-seq
MIRT816587	hsa-miR-4282	CLIP-seq
MIRT816588	hsa-miR-4288	CLIP-seq
MIRT816589	hsa-miR-429	CLIP-seq
MIRT816590	hsa-miR-4299	CLIP-seq
MIRT816591	hsa-miR-4302	CLIP-seq
MIRT816592	hsa-miR-4312	CLIP-seq
MIRT816593	hsa-miR-4318	CLIP-seq
MIRT816594	hsa-miR-4428	CLIP-seq
MIRT816595	hsa-miR-4456	CLIP-seq
MIRT816596	hsa-miR-4461	CLIP-seq
MIRT816597	hsa-miR-4495	CLIP-seq
MIRT816598	hsa-miR-4496	CLIP-seq
MIRT816599	hsa-miR-4521	CLIP-seq
MIRT816600	hsa-miR-4528	CLIP-seq
MIRT816601	hsa-miR-455-5p	CLIP-seq
MIRT816602	hsa-miR-4643	CLIP-seq
MIRT816603	hsa-miR-466	CLIP-seq
MIRT816604	hsa-miR-4666-3p	CLIP-seq
MIRT816605	hsa-miR-4693-5p	CLIP-seq
MIRT816606	hsa-miR-4694-5p	CLIP-seq
MIRT816607	hsa-miR-4731-3p	CLIP-seq
MIRT816608	hsa-miR-4747-3p	CLIP-seq
MIRT816609	hsa-miR-4772-3p	CLIP-seq
MIRT816610	hsa-miR-4775	CLIP-seq
MIRT816611	hsa-miR-4789-3p	CLIP-seq
MIRT816612	hsa-miR-4789-5p	CLIP-seq
MIRT816613	hsa-miR-4800-3p	CLIP-seq
MIRT816614	hsa-miR-4801	CLIP-seq
MIRT816615	hsa-miR-495	CLIP-seq
MIRT816616	hsa-miR-496	CLIP-seq
MIRT816617	hsa-miR-506	CLIP-seq
MIRT816618	hsa-miR-548n	CLIP-seq
MIRT816619	hsa-miR-548q	CLIP-seq
MIRT816620	hsa-miR-548t	CLIP-seq
MIRT816621	hsa-miR-548v	CLIP-seq
MIRT816622	hsa-miR-550a	CLIP-seq
MIRT816623	hsa-miR-561	CLIP-seq
MIRT816624	hsa-miR-567	CLIP-seq
MIRT816625	hsa-miR-582-5p	CLIP-seq
MIRT816626	hsa-miR-589	CLIP-seq
MIRT816627	hsa-miR-606	CLIP-seq
MIRT816628	hsa-miR-618	CLIP-seq
MIRT816629	hsa-miR-632	CLIP-seq
MIRT816630	hsa-miR-654-3p	CLIP-seq
MIRT816631	hsa-miR-892a	CLIP-seq
MIRT1941504	hsa-miR-128	CLIP-seq
MIRT1941505	hsa-miR-139-3p	CLIP-seq
MIRT816566	hsa-miR-30a	CLIP-seq
MIRT816567	hsa-miR-30b	CLIP-seq
MIRT816568	hsa-miR-30c	CLIP-seq
MIRT816569	hsa-miR-30d	CLIP-seq
MIRT816570	hsa-miR-30e	CLIP-seq
MIRT816573	hsa-miR-3140-3p	CLIP-seq
MIRT1941506	hsa-miR-3173-3p	CLIP-seq
MIRT1941507	hsa-miR-3591-3p	CLIP-seq
MIRT1941508	hsa-miR-3692	CLIP-seq
MIRT816581	hsa-miR-3714	CLIP-seq
MIRT816583	hsa-miR-3907	CLIP-seq
MIRT1941509	hsa-miR-4269	CLIP-seq
MIRT816591	hsa-miR-4302	CLIP-seq
MIRT1941510	hsa-miR-4422	CLIP-seq
MIRT816594	hsa-miR-4428	CLIP-seq
MIRT1941511	hsa-miR-4477b	CLIP-seq
MIRT1941512	hsa-miR-4717-3p	CLIP-seq
MIRT1941513	hsa-miR-4802-3p	CLIP-seq
MIRT1941514	hsa-miR-490-5p	CLIP-seq
MIRT1941515	hsa-miR-5096	CLIP-seq
MIRT1941516	hsa-miR-548an	CLIP-seq
MIRT1941517	hsa-miR-590-3p	CLIP-seq
MIRT1941518	hsa-miR-940	CLIP-seq
MIRT816538	hsa-miR-101	CLIP-seq
MIRT816539	hsa-miR-103a	CLIP-seq
MIRT816540	hsa-miR-107	CLIP-seq
MIRT2180217	hsa-miR-1183	CLIP-seq
MIRT2180218	hsa-miR-1185	CLIP-seq
MIRT816541	hsa-miR-124	CLIP-seq
MIRT2180219	hsa-miR-1262	CLIP-seq
MIRT1941504	hsa-miR-128	CLIP-seq
MIRT2180220	hsa-miR-1305	CLIP-seq
MIRT1941505	hsa-miR-139-3p	CLIP-seq
MIRT816548	hsa-miR-139-5p	CLIP-seq
MIRT816549	hsa-miR-144	CLIP-seq
MIRT2180221	hsa-miR-1827	CLIP-seq
MIRT2180222	hsa-miR-2115	CLIP-seq
MIRT2180223	hsa-miR-218	CLIP-seq
MIRT816559	hsa-miR-221	CLIP-seq
MIRT816560	hsa-miR-222	CLIP-seq
MIRT816561	hsa-miR-2276	CLIP-seq
MIRT2180224	hsa-miR-25	CLIP-seq
MIRT816566	hsa-miR-30a	CLIP-seq
MIRT816567	hsa-miR-30b	CLIP-seq
MIRT816568	hsa-miR-30c	CLIP-seq
MIRT816569	hsa-miR-30d	CLIP-seq
MIRT816570	hsa-miR-30e	CLIP-seq
MIRT816571	hsa-miR-3119	CLIP-seq
MIRT2180225	hsa-miR-3125	CLIP-seq
MIRT816573	hsa-miR-3140-3p	CLIP-seq
MIRT2180226	hsa-miR-3168	CLIP-seq
MIRT1941506	hsa-miR-3173-3p	CLIP-seq
MIRT2180227	hsa-miR-32	CLIP-seq
MIRT816577	hsa-miR-338-5p	CLIP-seq
MIRT2180228	hsa-miR-339-5p	CLIP-seq
MIRT816578	hsa-miR-346	CLIP-seq
MIRT2180229	hsa-miR-3529	CLIP-seq
MIRT2180230	hsa-miR-363	CLIP-seq
MIRT2180231	hsa-miR-3647-3p	CLIP-seq
MIRT816579	hsa-miR-3662	CLIP-seq
MIRT2180232	hsa-miR-367	CLIP-seq
MIRT2180233	hsa-miR-3679-5p	CLIP-seq
MIRT816581	hsa-miR-3714	CLIP-seq
MIRT2180234	hsa-miR-379	CLIP-seq
MIRT816582	hsa-miR-380	CLIP-seq
MIRT816583	hsa-miR-3907	CLIP-seq
MIRT816584	hsa-miR-3910	CLIP-seq
MIRT2180235	hsa-miR-3916	CLIP-seq
MIRT816588	hsa-miR-4288	CLIP-seq
MIRT816591	hsa-miR-4302	CLIP-seq
MIRT2180236	hsa-miR-4303	CLIP-seq
MIRT2180237	hsa-miR-4325	CLIP-seq
MIRT1941510	hsa-miR-4422	CLIP-seq
MIRT816594	hsa-miR-4428	CLIP-seq
MIRT2180238	hsa-miR-4451	CLIP-seq
MIRT2180239	hsa-miR-4455	CLIP-seq
MIRT816595	hsa-miR-4456	CLIP-seq
MIRT1941511	hsa-miR-4477b	CLIP-seq
MIRT2180240	hsa-miR-4494	CLIP-seq
MIRT816597	hsa-miR-4495	CLIP-seq
MIRT816599	hsa-miR-4521	CLIP-seq
MIRT2180241	hsa-miR-4649-3p	CLIP-seq
MIRT2180242	hsa-miR-4650-3p	CLIP-seq
MIRT2180243	hsa-miR-4666-5p	CLIP-seq
MIRT816605	hsa-miR-4693-5p	CLIP-seq
MIRT2180244	hsa-miR-4701-3p	CLIP-seq
MIRT2180245	hsa-miR-4708-3p	CLIP-seq
MIRT2180246	hsa-miR-4762-3p	CLIP-seq
MIRT816609	hsa-miR-4772-3p	CLIP-seq
MIRT2180247	hsa-miR-498	CLIP-seq
MIRT2180248	hsa-miR-502-5p	CLIP-seq
MIRT816617	hsa-miR-506	CLIP-seq
MIRT2180249	hsa-miR-516a-3p	CLIP-seq
MIRT2180250	hsa-miR-543	CLIP-seq
MIRT816621	hsa-miR-548v	CLIP-seq
MIRT816623	hsa-miR-561	CLIP-seq
MIRT2180251	hsa-miR-609	CLIP-seq
MIRT816628	hsa-miR-618	CLIP-seq
MIRT816629	hsa-miR-632	CLIP-seq
MIRT2180252	hsa-miR-636	CLIP-seq
MIRT2180253	hsa-miR-643	CLIP-seq
MIRT816630	hsa-miR-654-3p	CLIP-seq
MIRT2180254	hsa-miR-670	CLIP-seq
MIRT2180255	hsa-miR-877	CLIP-seq
MIRT2180256	hsa-miR-9	CLIP-seq
MIRT2180257	hsa-miR-92a	CLIP-seq
MIRT2180258	hsa-miR-92b	CLIP-seq
MIRT816566	hsa-miR-30a	CLIP-seq
MIRT816567	hsa-miR-30b	CLIP-seq
MIRT816568	hsa-miR-30c	CLIP-seq
MIRT816569	hsa-miR-30d	CLIP-seq
MIRT816570	hsa-miR-30e	CLIP-seq
MIRT816571	hsa-miR-3119	CLIP-seq
MIRT816591	hsa-miR-4302	CLIP-seq
MIRT2180246	hsa-miR-4762-3p	CLIP-seq
MIRT2180248	hsa-miR-502-5p	CLIP-seq
MIRT2180250	hsa-miR-543	CLIP-seq
MIRT2180253	hsa-miR-643	CLIP-seq
MIRT816545	hsa-miR-1291	CLIP-seq
MIRT816546	hsa-miR-1295	CLIP-seq
MIRT816572	hsa-miR-3121-3p	CLIP-seq
MIRT1941508	hsa-miR-3692	CLIP-seq
MIRT816586	hsa-miR-410	CLIP-seq
MIRT816587	hsa-miR-4282	CLIP-seq
MIRT816595	hsa-miR-4456	CLIP-seq
MIRT2483597	hsa-miR-4694-3p	CLIP-seq
MIRT1941512	hsa-miR-4717-3p	CLIP-seq
MIRT816608	hsa-miR-4747-3p	CLIP-seq
MIRT816610	hsa-miR-4775	CLIP-seq
MIRT1941513	hsa-miR-4802-3p	CLIP-seq
MIRT1941514	hsa-miR-490-5p	CLIP-seq
MIRT816615	hsa-miR-495	CLIP-seq
MIRT1941517	hsa-miR-590-3p	CLIP-seq
MIRT1941508	hsa-miR-3692	CLIP-seq
MIRT1941512	hsa-miR-4717-3p	CLIP-seq
MIRT1941513	hsa-miR-4802-3p	CLIP-seq
MIRT1941514	hsa-miR-490-5p	CLIP-seq
MIRT1941517	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	10662543, 25416956, 32296183
GO:0005634	Component	Nucleus	IDA	25593309
GO:0005634	Component	Nucleus	IEA
GO:0006338	Process	Chromatin remodeling	TAS	28801535
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	10662543
GO:0008270	Function	Zinc ion binding	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 605683
• HGNC: 963
• e!Ensembl: ENSG00000123636

Protein

• UniProt ID: Q9UIF8
• Protein name: Bromodomain adjacent to zinc finger domain protein 2B (hWALp4)
• Protein function: Regulatory subunit of the ATP-dependent BRF-1 and BRF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, an
• PDB: 2E7O, 3G0L, 3Q2F, 4CUP, 4CUQ, 4CUR, 4CUS, 4CUT, 4CUU, 4IR3, 4IR4, 4IR5, 4IR6, 4NR9, 4NRA, 4NRB, 4NRC, 4QC1, 4QC3, 4QF3, 4RVR, 4XUA, 4XUB, 5CQ3, 5CQ4, 5CQ5, 5CQ6, 5CQ7, 5CQ8, 5CQA, 5CU8, 5CUA, 5CUB, 5CUC, 5CUD, 5CUE, 5CUG, 5DYU, 5DYX, 5E73, 5E74, 5E9I, 5E9K, 5E9L, 5E9M, 5E9Y, 5L8T, 5L8U, 5L96, 5L97, 5L98
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01429	MBD	739 → 813	Methyl-CpG binding domain	Domain
  PF02791	DDT	1088 → 1149	DDT domain	Family
  PF15613	WSD	1372 → 1477	Williams-Beuren syndrome DDT (WSD), D-TOX E motif	Family
  PF00628	PHD	1933 → 1981	PHD-finger	Domain
  PF00439	Bromodomain	2069 → 2151	Bromodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at varying levels in several tissues, whereas a smaller transcript was expressed specifically in testis.
• Sequence:

  MESGERLPSSAASSTTPTSSSTPSVASVVSKGGLSTGVASLSSTINPCGHLFRTAGDQPF
  NLSTVSSAFPMVSHPVFGLHSASSGHSEFGGLGTLGTPTALAAHPQLASFPGAEWWRTTD
  AHTRTGATFFPPLLGIPPLFAPPAQNHDSSSFHSRTSGKSNRNGPEKGVNGSINGSNTSS
  VIGINTSVLSTTASSSMGQTKSTSSGGGNRKCNQEQSKNQPLDARVDKIKDKKPRKKAME
  SSSNSDSDSGTSSDTSSEGISSSDSDDLEEDEEEEDQSIEESEDDDSDSESEAQHKSNNQ
  VLLHGISDPKADGQKATEKAQEKRIHQPLPLASESQTHSFQSQQKQPQVLSQQLPFIFQS
  SQAKEESVNKHTSVIQSTGLVSNVKPLSLVNQAKKETYMKLIVPSPDVLKAGNKNTSEES
  SLLTSELRSKREQYKQAFPSQLKKQESSKSLKKVIAALSNPKATSSSPAHPKQTLENNHP
  NPFLTNALLGNHQPNGVIQSVIQEAPLALTTKTKMQSKINENIAAASSTPFSSPVNLSTS
  GRRTPGNQTPVMPSASPILHSQGKEKAVSNNVNPVKTQHHSHPAKSLVEQFRGTDSDIPS
  SKDSEDSNEDEEEDDEEEDEEDDEDDESDDSQSESDSNSESDTEGSEEEDDDDKDQDESD
  SDTEGEKTSMKLNKTTSSVKSPSMSLTGHSTPRNLHIAKAPGSAPAALCSESQSPAFLGT
  SSSTLTSSPHSGTSKRRRVTDERELRIPLEYGWQRETRIRNFGGRLQGEVAYYAPCGKKL
  RQYPEVIKYLSRNGIMDISRDNFSFSAKIRVGDFYEARDGPQGMQWCLLKEEDVIPRIRA
  MEGRRGRPPNPDRQRAREESRMRRRKGRPPNVGNAEFLDNADAKLLRKLQAQEIARQAAQ
  IKLLRKLQKQEQARVAKEAKKQQAIMAAEEKRKQKEQIKIMKQQEKIKRIQQIRMEKELR
  AQQILEAKKKKKEEAANAKLLEAEKRIKEKEMRRQQAVLLKHQERERRRQHMMLMKAMEA
  RKKAEEKERLKQEKRDEKRLNKERKLEQRRLELEMAKELKKPNEDMCLADQKPLPELPRI
  PGLVLSGSTFSDCLMVVQFLRNFGKVLGFDVNIDVPNLSVLQEGLLNIGDSMGEVQDLLV
  RLLSAAVCDPGLITGYKAKTALGEHLLNVGVNRDNVSEILQIFMEAHCGQTELTESLKTK
  AFQAHTPAQKASVLAFLINELACSKSVVSEIDKNIDYMSNLRRDKWVVEGKLRKLRIIHA
  KKTGKRDTSGGIDLGEEQHPLGTPTPGRKRRRKGGDSDYDDDDDDDSDDQGDEDDEDEED
  KEDKKGKKTDICEDEDEGDQAASVEELEKQIEKLSKQQSQYRRKLFDASHSLRSVMFGQD
  RYRRRYWILPQCGGIFVEGMESGEGLEEIAKEREKLKKAESVQIKEEMFETSGDSLNCSN
  TDHCEQKEDLKEKDNTNLFLQKPGSFSKLSKLLEVAKMPPESEVMTPKPNAGANGCTLSY
  QNSGKHSLGSVQSTATQSNVEKADSNNLFNTGSSGPGKFYSPLPNDQLLKTLTEKNRQWF
  SLLPRTPCDDTSLTHADMSTASLVTPQSQPPSKSPSPTPAPLGSSAQNPVGLNPFALSPL
  QVKGGVSMMGLQFCGWPTGVVTSNIPFTSSVPSLGSGLGLSEGNGNSFLTSNVASSKSES
  PVPQNEKATSAQPAAVEVAKPVDFPSPKPIPEEMQFGWWRIIDPEDLKALLKVLHLRGIR
  EKALQKQIQKHLDYITQACLKNKDVAIIELNENEENQVTRDIVENWSVEEQAMEMDLSVL
  QQVEDLERRVASASLQVKGWMCPEPASEREDLVYFEHKSFTKLCKEHDGEFTGEDESSAH
  ALERKSDNPLDIAVTRLADLERNIERRIEEDIAPGLRVWRRALSEARSAAQVALCIQQLQ
  KSIAWEKSIMKVYCQICRKGDNEELLLLCDGCDKGCHTYCHRPKITTIPDGDWFCPACIA
  KASGQTLKIKKLHVKGKKTNESKKGKKVTLTGDTEDEDSASTSSSLKRGNKDLKKRKMEE
  NTSINLSKQESFTSVKKPKRDDSKDLALCSMILTEMETHEDAWPFLLPVNLKLVPGYKKV
  IKKPMDFSTIREKLSSGQYPNLETFALDVRLVFDNCETFNEDDSDIGRAGHNMRKYFEKK
  WTDTFKVS

• Sequence length: 2168

Pathways

KEGG:

ATP-dependent chromatin remodeling

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
BAZ2B-associated neurodevelopmental disorder	Likely pathogenic	rs2471337904	RCV004763597	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BAZ2B-related disorder	Pathogenic; Likely pathogenic	rs2546859168, rs2547061538, rs2546822495, rs1296034887, rs2547457958	RCV003234632 RCV003234633 RCV003234634 RCV003234635 RCV003234636	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BAZ2B-related Neurodevelopmental disorder	Likely pathogenic	rs2149798268, rs2546860508	RCV002221701 RCV003228595	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs1575883384, rs1576949430, rs780189423	RCV001007691 RCV001007690 RCV001007689	★★★★☆ 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
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	31322043		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31999386	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	GWASDB_DG	17632509		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	GWASDB_DG	17632509		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31999386	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31999386	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29770599		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29770599		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31000582	Associate	★☆☆☆☆ Found in Text Mining only