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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	60468
Gene name	BACH transcriptional regulator 2
Gene symbol	BACH2
Synonyms (NCBI Gene)	BTBD25IMD60
Chromosome	6
Chromosome location	6q15

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs757652995	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1562364898	A>G	Pathogenic	Missense variant, coding sequence variant

289

Show/Hide all (289)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018572	hsa-miR-335-5p	Microarray	18185580
MIRT020413	hsa-miR-29c-3p	Sequencing	20371350
MIRT039735	hsa-miR-615-3p	CLASH	23622248
MIRT609048	hsa-miR-8485	HITS-CLIP	19536157
MIRT719708	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT719707	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT719706	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT719705	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT318819	hsa-miR-8064	HITS-CLIP	19536157
MIRT719704	hsa-miR-507	HITS-CLIP	19536157
MIRT719703	hsa-miR-557	HITS-CLIP	19536157
MIRT609048	hsa-miR-8485	HITS-CLIP	19536157
MIRT719708	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT719707	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT719706	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT719705	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT318819	hsa-miR-8064	HITS-CLIP	19536157
MIRT719704	hsa-miR-507	HITS-CLIP	19536157
MIRT719703	hsa-miR-557	HITS-CLIP	19536157
MIRT708188	hsa-miR-4517	HITS-CLIP	21572407
MIRT708187	hsa-miR-5583-3p	HITS-CLIP	21572407
MIRT708186	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT708185	hsa-miR-5692b	HITS-CLIP	21572407
MIRT708184	hsa-miR-5692c	HITS-CLIP	21572407
MIRT543066	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT543065	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT708183	hsa-miR-3201	HITS-CLIP	21572407
MIRT708182	hsa-miR-4791	HITS-CLIP	21572407
MIRT708181	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT708180	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT508029	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT708179	hsa-let-7a-2-3p	HITS-CLIP	21572407
MIRT708178	hsa-let-7g-3p	HITS-CLIP	21572407
MIRT508030	hsa-miR-6083	HITS-CLIP	21572407
MIRT408867	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT609048	hsa-miR-8485	HITS-CLIP	22927820
MIRT609047	hsa-miR-1324	HITS-CLIP	22927820
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	22927820
MIRT508031	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT543065	hsa-miR-656-3p	HITS-CLIP	23313552
MIRT508029	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508030	hsa-miR-6083	HITS-CLIP	23313552
MIRT408867	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT609048	hsa-miR-8485	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT660375	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT660374	hsa-miR-5695	HITS-CLIP	23824327
MIRT660373	hsa-miR-4434	HITS-CLIP	23824327
MIRT660372	hsa-miR-4516	HITS-CLIP	23824327
MIRT660371	hsa-miR-5703	HITS-CLIP	23824327
MIRT660370	hsa-miR-4531	HITS-CLIP	23824327
MIRT660369	hsa-miR-1270	HITS-CLIP	23824327
MIRT660368	hsa-miR-620	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT660367	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660366	hsa-miR-4287	HITS-CLIP	23824327
MIRT660365	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT660364	hsa-miR-15b-3p	HITS-CLIP	23824327
MIRT660363	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT660362	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660361	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660360	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT624601	hsa-miR-4418	HITS-CLIP	23824327
MIRT624600	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT624599	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT624598	hsa-miR-217	HITS-CLIP	23824327
MIRT624597	hsa-miR-6807-3p	HITS-CLIP	23824327
MIRT624596	hsa-miR-6076	HITS-CLIP	23824327
MIRT624595	hsa-miR-6797-3p	HITS-CLIP	23824327
MIRT609048	hsa-miR-8485	HITS-CLIP	24906430
MIRT609047	hsa-miR-1324	HITS-CLIP	24906430
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	24906430
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT508030	hsa-miR-6083	PAR-CLIP	20371350
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT543066	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543065	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508030	hsa-miR-6083	PAR-CLIP	21572407
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508030	hsa-miR-6083	PAR-CLIP	23446348
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT609048	hsa-miR-8485	HITS-CLIP	27418678
MIRT734221	hsa-miR-150-5p	Flow cytometryLuciferase reporter assayqRT-PCRWestern blotting	33447883
MIRT609048	hsa-miR-8485	HITS-CLIP	19536157
MIRT719708	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT719707	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT719706	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT719705	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT318819	hsa-miR-8064	HITS-CLIP	19536157
MIRT719704	hsa-miR-507	HITS-CLIP	19536157
MIRT719703	hsa-miR-557	HITS-CLIP	19536157
MIRT609048	hsa-miR-8485	HITS-CLIP	19536157
MIRT719708	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT719707	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT719706	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT719705	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT318819	hsa-miR-8064	HITS-CLIP	19536157
MIRT719704	hsa-miR-507	HITS-CLIP	19536157
MIRT719703	hsa-miR-557	HITS-CLIP	19536157
MIRT708188	hsa-miR-4517	HITS-CLIP	21572407
MIRT708187	hsa-miR-5583-3p	HITS-CLIP	21572407
MIRT708186	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT708185	hsa-miR-5692b	HITS-CLIP	21572407
MIRT708184	hsa-miR-5692c	HITS-CLIP	21572407
MIRT543066	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT543065	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT708183	hsa-miR-3201	HITS-CLIP	21572407
MIRT708182	hsa-miR-4791	HITS-CLIP	21572407
MIRT708181	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT708180	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT508029	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT708179	hsa-let-7a-2-3p	HITS-CLIP	21572407
MIRT708178	hsa-let-7g-3p	HITS-CLIP	21572407
MIRT508030	hsa-miR-6083	HITS-CLIP	21572407
MIRT408867	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT609048	hsa-miR-8485	HITS-CLIP	22927820
MIRT609047	hsa-miR-1324	HITS-CLIP	22927820
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	22927820
MIRT508031	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT543065	hsa-miR-656-3p	HITS-CLIP	23313552
MIRT508029	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508030	hsa-miR-6083	HITS-CLIP	23313552
MIRT408867	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23313552
MIRT609048	hsa-miR-8485	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT609048	hsa-miR-8485	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT660375	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT660374	hsa-miR-5695	HITS-CLIP	23824327
MIRT660373	hsa-miR-4434	HITS-CLIP	23824327
MIRT660372	hsa-miR-4516	HITS-CLIP	23824327
MIRT660371	hsa-miR-5703	HITS-CLIP	23824327
MIRT660370	hsa-miR-4531	HITS-CLIP	23824327
MIRT660369	hsa-miR-1270	HITS-CLIP	23824327
MIRT660368	hsa-miR-620	HITS-CLIP	23824327
MIRT609047	hsa-miR-1324	HITS-CLIP	23824327
MIRT609046	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT660367	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660366	hsa-miR-4287	HITS-CLIP	23824327
MIRT660365	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT660364	hsa-miR-15b-3p	HITS-CLIP	23824327
MIRT660363	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT660362	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660361	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660360	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT624601	hsa-miR-4418	HITS-CLIP	23824327
MIRT624600	hsa-miR-509-3-5p	HITS-CLIP	23824327
MIRT624599	hsa-miR-509-5p	HITS-CLIP	23824327
MIRT624598	hsa-miR-217	HITS-CLIP	23824327
MIRT624597	hsa-miR-6807-3p	HITS-CLIP	23824327
MIRT624596	hsa-miR-6076	HITS-CLIP	23824327
MIRT624595	hsa-miR-6797-3p	HITS-CLIP	23824327
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT508030	hsa-miR-6083	PAR-CLIP	20371350
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT543066	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543065	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508030	hsa-miR-6083	PAR-CLIP	21572407
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508031	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508029	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508030	hsa-miR-6083	PAR-CLIP	23446348
MIRT408867	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT814330	hsa-miR-103a	CLIP-seq
MIRT814331	hsa-miR-107	CLIP-seq
MIRT814332	hsa-miR-1236	CLIP-seq
MIRT814333	hsa-miR-1256	CLIP-seq
MIRT814334	hsa-miR-1301	CLIP-seq
MIRT814335	hsa-miR-183	CLIP-seq
MIRT814336	hsa-miR-203	CLIP-seq
MIRT814337	hsa-miR-3128	CLIP-seq
MIRT814338	hsa-miR-3171	CLIP-seq
MIRT814339	hsa-miR-3199	CLIP-seq
MIRT814340	hsa-miR-3591-5p	CLIP-seq
MIRT814341	hsa-miR-3622a-3p	CLIP-seq
MIRT814342	hsa-miR-3622b-3p	CLIP-seq
MIRT814343	hsa-miR-3646	CLIP-seq
MIRT814344	hsa-miR-3668	CLIP-seq
MIRT814345	hsa-miR-3919	CLIP-seq
MIRT814346	hsa-miR-4251	CLIP-seq
MIRT814347	hsa-miR-4252	CLIP-seq
MIRT814348	hsa-miR-4328	CLIP-seq
MIRT814349	hsa-miR-4436a	CLIP-seq
MIRT814350	hsa-miR-4473	CLIP-seq
MIRT814351	hsa-miR-4504	CLIP-seq
MIRT814352	hsa-miR-450b-5p	CLIP-seq
MIRT814353	hsa-miR-451	CLIP-seq
MIRT814354	hsa-miR-451b	CLIP-seq
MIRT814355	hsa-miR-4640-5p	CLIP-seq
MIRT814356	hsa-miR-4671-3p	CLIP-seq
MIRT814357	hsa-miR-4712-3p	CLIP-seq
MIRT814358	hsa-miR-4719	CLIP-seq
MIRT814359	hsa-miR-4720-5p	CLIP-seq
MIRT814360	hsa-miR-4726-5p	CLIP-seq
MIRT814361	hsa-miR-4790-3p	CLIP-seq
MIRT814362	hsa-miR-4797-5p	CLIP-seq
MIRT814363	hsa-miR-4799-3p	CLIP-seq
MIRT814364	hsa-miR-485-3p	CLIP-seq
MIRT814365	hsa-miR-495	CLIP-seq
MIRT814366	hsa-miR-5047	CLIP-seq
MIRT814367	hsa-miR-512-3p	CLIP-seq
MIRT814368	hsa-miR-520f	CLIP-seq
MIRT814369	hsa-miR-539	CLIP-seq
MIRT814370	hsa-miR-542-3p	CLIP-seq
MIRT814371	hsa-miR-548ag	CLIP-seq
MIRT814372	hsa-miR-548ai	CLIP-seq
MIRT814373	hsa-miR-548c-3p	CLIP-seq
MIRT814374	hsa-miR-653	CLIP-seq
MIRT814375	hsa-miR-758	CLIP-seq
MIRT814376	hsa-miR-130a	CLIP-seq
MIRT814377	hsa-miR-130b	CLIP-seq
MIRT814378	hsa-miR-1323	CLIP-seq
MIRT814379	hsa-miR-142-3p	CLIP-seq
MIRT814380	hsa-miR-148a	CLIP-seq
MIRT814381	hsa-miR-148b	CLIP-seq
MIRT814382	hsa-miR-152	CLIP-seq
MIRT814383	hsa-miR-204	CLIP-seq
MIRT814384	hsa-miR-211	CLIP-seq
MIRT814385	hsa-miR-2117	CLIP-seq
MIRT814386	hsa-miR-301a	CLIP-seq
MIRT814387	hsa-miR-301b	CLIP-seq
MIRT814388	hsa-miR-3666	CLIP-seq
MIRT814389	hsa-miR-3688-5p	CLIP-seq
MIRT814346	hsa-miR-4251	CLIP-seq
MIRT814347	hsa-miR-4252	CLIP-seq
MIRT814390	hsa-miR-4273	CLIP-seq
MIRT814391	hsa-miR-4295	CLIP-seq
MIRT814392	hsa-miR-4470	CLIP-seq
MIRT814351	hsa-miR-4504	CLIP-seq
MIRT814393	hsa-miR-454	CLIP-seq
MIRT814355	hsa-miR-4640-5p	CLIP-seq
MIRT814394	hsa-miR-4659a-3p	CLIP-seq
MIRT814395	hsa-miR-4659b-3p	CLIP-seq
MIRT814396	hsa-miR-4717-3p	CLIP-seq
MIRT814360	hsa-miR-4726-5p	CLIP-seq
MIRT814397	hsa-miR-4778-3p	CLIP-seq
MIRT814398	hsa-miR-499-3p	CLIP-seq
MIRT814399	hsa-miR-499a-3p	CLIP-seq
MIRT814369	hsa-miR-539	CLIP-seq
MIRT814370	hsa-miR-542-3p	CLIP-seq
MIRT814400	hsa-miR-548o	CLIP-seq
MIRT814401	hsa-miR-648	CLIP-seq
MIRT814375	hsa-miR-758	CLIP-seq
MIRT814402	hsa-miR-767-5p	CLIP-seq
MIRT814332	hsa-miR-1236	CLIP-seq
MIRT1940787	hsa-miR-1265	CLIP-seq
MIRT1940788	hsa-miR-3159	CLIP-seq
MIRT814345	hsa-miR-3919	CLIP-seq
MIRT814348	hsa-miR-4328	CLIP-seq
MIRT1940789	hsa-miR-4438	CLIP-seq
MIRT814365	hsa-miR-495	CLIP-seq
MIRT2179786	hsa-miR-150	CLIP-seq
MIRT2179787	hsa-miR-190	CLIP-seq
MIRT2179788	hsa-miR-190b	CLIP-seq
MIRT2179789	hsa-miR-3123	CLIP-seq
MIRT2179790	hsa-miR-3163	CLIP-seq
MIRT2179791	hsa-miR-4691-5p	CLIP-seq
MIRT2179792	hsa-miR-486-3p	CLIP-seq
MIRT2179793	hsa-miR-579	CLIP-seq
MIRT2179794	hsa-miR-1206	CLIP-seq
MIRT2179795	hsa-miR-1915	CLIP-seq
MIRT2179796	hsa-miR-4496	CLIP-seq
MIRT2179793	hsa-miR-579	CLIP-seq
MIRT814369	hsa-miR-539	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	NAS	27052415
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	23661758, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	23661758, 27052415
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	23661758
GO:0051170	Process	Import into nucleus	IEA
GO:0051170	Process	Import into nucleus	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	IPI	22194330, 23661758
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:0090721	Process	Primary adaptive immune response involving T cells and B cells	IMP	28530713
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
605394	14078	ENSG00000112182

Q9BYV9

Protein name

Transcription regulator protein BACH2 (BTB and CNC homolog 2)

Protein function

Transcriptional regulator that acts as a repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). I

PDB

3OHU , 3OHV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	27 → 133	BTB/POZ domain	Domain
PF03131	bZIP_Maf	617 → 709	bZIP Maf transcription factor	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: B-cell specific.

Sequence

MSVDEKPDSPMYVYESTVHCTNILLGLNDQRKKDILCDVTLIVERKEFRAHRAVLAACSE
YFWQALVGQTKNDLVVSLPEEVTARGFGPLLQFAYTAKLLLSRENIREVIRCAEFLRMHN
LEDSCFSFLQTQLLNSEDGLFVCRKDAACQRPHEDCENSAGEEEDEEEETMDSETAKMAC
PRDQMLPEPISFEAAAIPVAEKEEALLPEPDVPTDTKESSEKDALTQYPRYKKYQLACTK
NVYNASSHSTSGFASTFREDNSSNSLKPGLARGQIKSEPPSEENEEESITLCLSGDEPDA
KDRAGDVEMDRKQPSPAPTPTAPAGAACLERSRSVASPSCLRSLFSITKSVELSGLPSTS
QQHFARSPACPFDKGITQGDLKTDYTPFTGNYGQPHVGQKEVSNFTMGSPLRGPGLEALC
KQEGELDRRSVIFSSSACDQVSTSVHSYSGVSSLDKDLSEPVPKGLWVGAGQSLPSSQAY
SHGGLMADHLPGRMRPNTSCPVPIKVCPRSPPLETRTRTSSSCSSYSYAEDGSGGSPCSL
PLCEFSSSPCSQGARFLATEHQEPGLMGDGMYNQVRPQIKCEQSYGTNSSDESGSFSEAD
SESCPVQDRGQEVKLPFPVDQITDLPRNDFQMMIKMHKLTSEQLEFIHDVRRRSKNRIAA
QRCRKRKLDCIQNLECEIRKLVCEKEKLLSERNQLKACMGELLDNFSCLSQEVCRDIQSP
EQIQALHRYCPVLRPMDLPTASSINPAPLGAEQNIAASQCAVGENVPCCLEPGAAPPGPP
WAPSNTSENCTSGRRLEGTDPGTFSERGPPLEPRSQTVTVDFCQEMTDKCTTDEQPRKDY
T

Sequence length

841

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 60	Pathogenic	rs1562364898	RCV000767852

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal recessive congenital ichthyosis	Uncertain significance	rs779790057	RCV005626575
BACH2-related disorder	Likely benign; Benign; Uncertain significance	rs149898769, rs147908828, rs140620174, rs777106735, rs146845001, rs374620073, rs760735220, rs374812157, rs771648214, rs144637668, rs138821467, rs755356618, rs570273534, rs139627462, rs1208168856 View all (12 more)	RCV003900647 RCV003948455 RCV003948482 RCV003931001 RCV003956168 RCV004752135 RCV003948864 RCV003426240 RCV003403661 RCV003950926 RCV003903537 RCV003968797 RCV003933691 RCV003903514 RCV003403927 RCV003414137 RCV003399837 RCV003901523 RCV003913840 RCV003937364 RCV003907281 RCV003924273 RCV003413584 RCV003978330 RCV003910515 RCV003920529 RCV003977964
Primary ciliary dyskinesia 3	Uncertain significance	rs759035058	RCV003234804

Show/Hide Text Mining Associations (66)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Addison Disease	Associate	27680876, 27807919, 33966174
Alopecia	Associate	33966174
Alzheimer Disease	Associate	38002954
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Associate	34888651
Asthma	Associate	21907864
Autoimmune Diseases	Associate	27680876, 28530713, 33903979, 33966174
Burkitt Lymphoma	Associate	37639483
Celiac Disease	Associate	20190752, 33966174
Colitis Ulcerative	Associate	22543157, 29991969, 32908909
Colonic Neoplasms	Associate	39333335
Coronary Disease	Associate	31501353, 36180886
Crohn Disease	Associate	29991969
Diabetes Mellitus	Associate	34907913
Diabetes Mellitus Type 1	Associate	18840781, 21829393, 24595351, 30970177, 32236312, 33966174, 34127860, 37289818
Diabetes Mellitus Type 2	Associate	34907912, 34907913
Disease	Associate	26444573
Drug Related Side Effects and Adverse Reactions	Associate	12829606
Dysgammaglobulinemia	Associate	28530713
Endocrine System Diseases	Associate	33966174
Graves Disease	Associate	21829393, 33966174
Hashimoto Disease	Associate	29527211
Hematologic Neoplasms	Associate	28256087
HIV Infections	Associate	24968937
Hypoxia Brain	Associate	36775962
Immune Dysregulation Polyendocrinopathy Enteropathy X Linked Syndrome	Associate	28530713, 33864888
Immune System Diseases	Associate	35687490
Immunologic Deficiency Syndromes	Associate	28530713
Infections	Associate	24968937, 33832973
Inflammation	Inhibit	25670004, 32236312
Inflammation	Associate	26444573, 28530713
Inflammatory Bowel Diseases	Associate	22543157, 29991969, 35018451
Leukemia	Associate	17018862, 28030830
Leukemia	Inhibit	30654767
Leukemia Biphenotypic Acute	Associate	28030830
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	12829606, 35544467
Leukemia Myelogenous Chronic BCR ABL Positive	Inhibit	17018862
Leukemia T Cell	Associate	38233409
Lupus Erythematosus Systemic	Associate	26200652, 31808546, 36284352, 36781170
Lupus Erythematosus Systemic	Inhibit	33249782
Lupus Nephritis	Associate	33013825
Lymphoma	Associate	37801226
Lymphoma B Cell	Associate	38233409
Lymphoma Follicular	Associate	22899287
Lymphoma Large B Cell Diffuse	Associate	24450488, 37801226
Lymphoma Large B Cell Diffuse	Inhibit	28256087
Lymphoma Mantle Cell	Associate	23936317
Lymphoma Non Hodgkin	Associate	18929412
Lymphoma T Cell	Associate	38233409
Menopause Premature	Associate	33966174
Microscopic Polyangiitis	Associate	34888651
Multiple Sclerosis	Inhibit	25670004
Multiple Sclerosis	Associate	29527211
Multiple Sclerosis Relapsing Remitting	Inhibit	33013825
Nasopharyngeal Carcinoma	Associate	28487475
Neoplasms	Associate	22899287, 27491898, 28837395
Neoplasms	Inhibit	28256087, 38233409
Personality Disorders	Associate	28256087
Polyendocrinopathies Autoimmune	Associate	27680876, 33966174
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	28030830
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	38233409
Primary Immunodeficiency Diseases	Associate	28530713, 38644452
Reperfusion Injury	Associate	37532764
Skin Neoplasms	Associate	35018451
Stomach Neoplasms	Associate	33316777
T cell immunodeficiency primary	Associate	35544467
Thyroiditis Autoimmune	Associate	37197658

BACH2 (BACH transcriptional regulator 2)