Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
60468
Gene name Gene Name - the full gene name approved by the HGNC.
BACH transcriptional regulator 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BACH2
Synonyms (NCBI Gene) Gene synonyms aliases
BTBD25, IMD60
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD60
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q15
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605394 14078 ENSG00000112182
Protein
UniProt ID 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
LEDSCFSFLQTQL
LNSEDGLFVCRKDAACQRPHEDCENSAGEEEDEEEETMDSETAKMAC
PRDQMLPEPISFEAAAIPVAEKEEALLPEPDVPTDTKESSEKDALTQYPRYKKYQLACTK
NVYNASSHSTSGFASTFREDNSSNSLKPGLARGQIKSEPPSEENEEESITLCLSGDEPDA
KDRAGDVEMDRKQPSPAPTPTAPAGAACLERSRSVASPSCLRSLFSITKSVELSGLPSTS
QQHFARSPACPFDKGITQGDLKTDYTPFTGNYGQPHVGQKEVSNFTMGSPLRGPGLEALC
KQEGELDRRSVIFSSSACDQVSTSVHSYSGVSSLDKDLSEPVPKGLWVGAGQSLPSSQAY
SHGGLMADHLPGRMRPNTSCPVPIKVCPRSPPLETRTRTSSSCSSYSYAEDGSGGSPCSL
PLCEFSSSPCSQGARFLATEHQEPGLMGDGMYNQVRPQIKCEQSYGTNSSDESGSFSEAD
SESCPVQDRGQEVKLPFPVDQITDLPRNDFQMMIKMHKLTSEQLEFIHDVRRRSKNRIAA
QRCRKRKLDCIQNLECEIRKLVCEKEKLLSERNQLKACMGELLDNFSCL
SQEVCRDIQSP
EQIQALHRYCPVLRPMDLPTASSINPAPLGAEQNIAASQCAVGENVPCCLEPGAAPPGPP
WAPSNTSENCTSGRRLEGTDPGTFSERGPPLEPRSQTVTVDFCQEMTDKCTTDEQPRKDY
T
Sequence length 841
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autoimmune diseases Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 rs869025224 30595370, 21383967
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 31174203
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Carcinoma Basal cell carcinoma, Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 31174203
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma, Childhood asthma 21150878, 21907864, 27182965, 30929738, 31619474, 30552067, 29273806 ClinVar, GWAS
Celiac disease Celiac Disease, Celiac disease 20190752, 26546613, 24999842, 22057235, 23143596 ClinVar, GWAS
Crohn disease Crohn Disease, Regional enteritis 21102463, 28067908, 26192919, 26974007 ClinVar
Otitis media Recurrent otitis media ClinVar
Associations from Text Mining
Disease Name Relationship Type References
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