BACH2
entrez
60468
canonical
uniprot
Q9BYV9
canonical
ensembl
ENSG00000112182
resolver
ensp
ENSP00000257749
resolver
ensp
ENSP00000345642
resolver
ensp
ENSP00000384145
resolver
ensp
ENSP00000397668
resolver
ensp
ENSP00000512284
resolver
ensp
ENSP00000601276
resolver
ensp
ENSP00000601277
resolver
ensp
ENSP00000638981
resolver
enst
ENST00000257749
resolver
enst
ENST00000343122
resolver
enst
ENST00000406998
resolver
enst
ENST00000453877
resolver
enst
ENST00000695952
resolver
enst
ENST00000931217
resolver
enst
ENST00000931218
resolver
enst
ENST00000968922
resolver
genesymbol
BACH2
resolver
hgnc
HGNC:14078
resolver
uniprot
E1P518
resolver
uniprot
Q59H70
resolver
uniprot
Q5T793
resolver
uniprot
Q9NTS5
resolver
uniprot_entry
BACH2_HUMAN
resolver
uniprot_sec
E1P518
resolver
uniprot_sec
Q59H70
resolver
uniprot_sec
Q5T793
resolver
uniprot_sec
Q9NTS5
resolver
amino_acid_sequence
MSVDEKPDSPMYVYESTVHCTNILLGLNDQRKKDILCDVTLIVERKEFRAHRAVLAACSEYFWQALVGQTKNDLVVSLPEEVTARGFGPLLQFAYTAKLLLSRENIREVIRCAEFLRMHNLEDSCFSFLQTQLLNSEDGLFVCRKDAACQRPHEDCENSAGEEEDEEEETMDSETAKMACPRDQMLPEPISFEAAAIPVAEKEEALLPEPDVPTDTKESSEKDALTQYPRYKKYQLACTKNVYNASSHSTSGFASTFREDNSSNSLKPGLARGQIKSEPPSEENEEESITLCLSGDEPDAKDRAGDVEMDRKQPSPAPTPTAPAGAACLERSRSVASPSCLRSLFSITKSVELSGLPSTSQQHFARSPACPFDKGITQGDLKTDYTPFTGNYGQPHVGQKEVSNFTMGSPLRGPGLEALCKQEGELDRRSVIFSSSACDQVSTSVHSYSGVSSLDKDLSEPVPKGLWVGAGQSLPSSQAYSHGGLMADHLPGRMRPNTSCPVPIKVCPRSPPLETRTRTSSSCSSYSYAEDGSGGSPCSLPLCEFSSSPCSQGARFLATEHQEPGLMGDGMYNQVRPQIKCEQSYGTNSSDESGSFSEADSESCPVQDRGQEVKLPFPVDQITDLPRNDFQMMIKMHKLTSEQLEFIHDVRRRSKNRIAAQRCRKRKLDCIQNLECEIRKLVCEKEKLLSERNQLKACMGELLDNFSCLSQEVCRDIQSPEQIQALHRYCPVLRPMDLPTASSINPAPLGAEQNIAASQCAVGENVPCCLEPGAAPPGPPWAPSNTSENCTSGRRLEGTDPGTFSERGPPLEPRSQTVTVDFCQEMTDKCTTDEQPRKDYT
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 60 and autoimmunity (IMD60) [MIM:618394]: An autosomal dominant primary immunologic disorder characterized by intestinal inflammation, recurrent sino-pulmonary infections, impaired lymphocyte maturation, and variably decreased immunoglobulin production. {ECO:0000269|PubMed:28530713}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1 (PubMed:17018862). Positively regulates the nuclear import of actin (By similarity). Is a key regulator of adaptive immunity, crucial for the maintenance of regulatory T-cell function and B-cell maturation (PubMed:28530713). {ECO:0000250|UniProtKB:P97303, ECO:0000269|PubMed:17018862, ECO:0000269|PubMed:28530713}.
uniprot
proteins
mass_dalton
92537
uniprot
proteins
mutagenesis
MUTAGEN 521; /note="S->A: Leads to nuclear accumulation."; /evidence="ECO:0000269|PubMed:17018862
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-521 downstream of the PI-3K pathway promotes nuclear export. {ECO:0000269|PubMed:17018862}.; PTM: The reversible disulfide bond may provide a mechanism to regulate the activity in oxidative stress responses. {ECO:0000269|PubMed:22194330}.
uniprot
proteins
protein_family
BZIP family
uniprot
proteins
protein_family
CNC subfamily
uniprot
proteins
pubmed
10949928
uniprot
proteins
pubmed
11746976
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
17018862
uniprot
proteins
pubmed
22194330
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28530713
uniprot
proteins
sequence_length
841
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17018862, ECO:0000269|PubMed:28530713}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:17018862, ECO:0000269|PubMed:28530713}. Note=Nucleocytoplasmic shuttling is controlled by phosphorylation. {ECO:0000269|PubMed:17018862}.
uniprot
proteins