Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 604
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol BCL6   Gene   UCSC   Ensembl
Aliases BCL5, BCL6A, LAZ3, ZBTB27, ZNF51
Gene name B-cell CLL/lymphoma 6
Alternate names B-cell lymphoma 6 protein, B-cell lymphoma 5 protein, B-cell lymphoma 6 protein transcript, BCL-5, BCL-6, cys-his2 zinc finger transcription factor, lymphoma-associated zinc finger gene on chromosome 3, protein LAZ-3, zinc finger and BTB domain-containing protein,
Gene location 3q27.3 (187745724: 187721376)     Exons: 12     NC_000003.12
Gene summary(Entrez) The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
OMIM 109565

Protein Summary

Protein general information P41182  

Name: B cell lymphoma 6 protein (BCL 6) (B cell lymphoma 5 protein) (BCL 5) (Protein LAZ 3) (Zinc finger and BTB domain containing protein 27) (Zinc finger protein 51)

Length: 706  Mass: 78,846

Tissue specificity: Expressed in germinal center T- and B-cells and in primary immature dendritic cells. {ECO

Sequence MASPADSCIQFTRHASDVLLNLNRLRSRDILTDVVIVVSREQFRAHKTVLMACSGLFYSIFTDQLKCNLSVINLD
PEINPEGFCILLDFMYTSRLNLREGNIMAVMATAMYLQMEHVVDTCRKFIKASEAEMVSAIKPPREEFLNSRMLM
PQDIMAYRGREVVENNLPLRSAPGCESRAFAPSLYSGLSTPPASYSMYSHLPVSSLLFSDEEFRDVRMPVANPFP
KERALPCDSARPVPGEYSRPTLEVSPNVCHSNIYSPKETIPEEARSDMHYSVAEGLKPAAPSARNAPYFPCDKAS
KEEERPSSEDEIALHFEPPNAPLNRKGLVSPQSPQKSDCQPNSPTESCSSKNACILQASGSPPAKSPTDPKACNW
KKYKFIVLNSLNQNAKPEGPEQAELGRLSPRAYTAPPACQPPMEPENLDLQSPTKLSASGEDSTIPQASRLNNIV
NRSMTGSPRSSSESHSPLYMHPPKCTSCGSQSPQHAEMCLHTAGPTFPEEMGETQSEYSDSSCENGAFFCNECDC
RFSEEASLKRHTLQTHSDKPYKCDRCQASFRYKGNLASHKTVHTGEKPYRCNICGAQFNRPANLKTHTRIHSGEK
PYKCETCGARFVQVAHLRAHVLIHTGEKPYPCEICGTRFRHLQTLKSHLRIHTGEKPYHCEKCNLHFRHKSQLRL
HLRQKHGAITNTKVQYRVSATDLPPELPKAC
Structural information
Protein Domains
BTB. (32-99)
Interpro:  IPR000210 IPR011333 IPR013087
Prosite:   PS50097 PS00028 PS50157

Pfam:  
PF00651

PDB:  
1R28 1R29 1R2B 2EN2 2EOS 2LCE 2YRM 3BIM 3E4U 3LBZ 4CP3 4U2M 5H7G 5H7H
PDBsum:   1R28 1R29 1R2B 2EN2 2EOS 2LCE 2YRM 3BIM 3E4U 3LBZ 4CP3 4U2M 5H7G 5H7H

DIP:  
2651
MINT:   158757
STRING:   ENSP00000232014;
Other Databases GeneCards:  BCL6;  Malacards:  BCL6

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000060 protein import into nucle
us, translocation
IGI biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000902 cell morphogenesis
IEA biological_process
GO:0000977 RNA polymerase II regulat
ory region sequence-speci
fic DNA binding
IEA molecular_function
GO:0001161 intronic transcription re
gulatory region sequence-
specific DNA binding
IEA molecular_function
GO:0001227 transcriptional repressor
activity, RNA polymerase
II transcription regulat
ory region sequence-speci
fic binding
IEA molecular_function
GO:0001953 negative regulation of ce
ll-matrix adhesion
IEA biological_process
GO:0002467 germinal center formation
IEA biological_process
GO:0002634 regulation of germinal ce
nter formation
NAS biological_process
GO:0002903 negative regulation of B
cell apoptotic process
NAS biological_process
GO:0003682 chromatin binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IMP molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IDA biological_process
GO:0007266 Rho protein signal transd
uction
IEA biological_process
GO:0007283 spermatogenesis
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IEA biological_process
GO:0030036 actin cytoskeleton organi
zation
IEA biological_process
GO:0030099 myeloid cell differentiat
ion
IBA biological_process
GO:0030183 B cell differentiation
IEA biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030890 positive regulation of B
cell proliferation
IEA biological_process
GO:0031065 positive regulation of hi
stone deacetylation
IEA biological_process
GO:0031490 chromatin DNA binding
IEA molecular_function
GO:0032764 negative regulation of ma
st cell cytokine producti
on
IEA biological_process
GO:0035024 negative regulation of Rh
o protein signal transduc
tion
IEA biological_process
GO:0042092 type 2 immune response
IBA biological_process
GO:0042127 regulation of cell prolif
eration
IBA biological_process
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043065 positive regulation of ap
optotic process
IDA biological_process
GO:0043087 regulation of GTPase acti
vity
IEA biological_process
GO:0043380 regulation of memory T ce
ll differentiation
IEA biological_process
GO:0043565 sequence-specific DNA bin
ding
IDA molecular_function
GO:0045629 negative regulation of T-
helper 2 cell differentia
tion
IEA biological_process
GO:0045666 positive regulation of ne
uron differentiation
IEA biological_process
GO:0045746 negative regulation of No
tch signaling pathway
IEA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IMP biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
NAS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048294 negative regulation of is
otype switching to IgE is
otypes
IEA biological_process
GO:0048821 erythrocyte development
IEA biological_process
GO:0050727 regulation of inflammator
y response
IBA biological_process
GO:0050767 regulation of neurogenesi
s
IBA biological_process
GO:0050776 regulation of immune resp
onse
NAS biological_process
GO:0051272 positive regulation of ce
llular component movement
IEA biological_process
GO:2000773 negative regulation of ce
llular senescence
IEA biological_process
GO:0005657 replication fork
IDA cellular_component
GO:0000060 protein import into nucle
us, translocation
IGI biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000902 cell morphogenesis
IEA biological_process
GO:0000977 RNA polymerase II regulat
ory region sequence-speci
fic DNA binding
IEA molecular_function
GO:0001161 intronic transcription re
gulatory region sequence-
specific DNA binding
IEA molecular_function
GO:0001227 transcriptional repressor
activity, RNA polymerase
II transcription regulat
ory region sequence-speci
fic binding
IEA molecular_function
GO:0001953 negative regulation of ce
ll-matrix adhesion
IEA biological_process
GO:0002376 immune system process
IEA biological_process
GO:0002467 germinal center formation
IEA biological_process
GO:0002634 regulation of germinal ce
nter formation
NAS biological_process
GO:0002829 negative regulation of ty
pe 2 immune response
IEA biological_process
GO:0002903 negative regulation of B
cell apoptotic process
NAS biological_process
GO:0003676 nucleic acid binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003682 chromatin binding
IEA molecular_function
GO:0003682 chromatin binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IMP molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
IEA biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IDA biological_process
GO:0007266 Rho protein signal transd
uction
IEA biological_process
GO:0007283 spermatogenesis
IEA biological_process
GO:0008104 protein localization
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IEA biological_process
GO:0030036 actin cytoskeleton organi
zation
IEA biological_process
GO:0030099 myeloid cell differentiat
ion
IBA biological_process
GO:0030183 B cell differentiation
IEA biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0030890 positive regulation of B
cell proliferation
IEA biological_process
GO:0031065 positive regulation of hi
stone deacetylation
IEA biological_process
GO:0031490 chromatin DNA binding
IEA molecular_function
GO:0032764 negative regulation of ma
st cell cytokine producti
on
IEA biological_process
GO:0035024 negative regulation of Rh
o protein signal transduc
tion
IEA biological_process
GO:0042092 type 2 immune response
IEA biological_process
GO:0042092 type 2 immune response
IBA biological_process
GO:0042127 regulation of cell prolif
eration
IEA biological_process
GO:0042127 regulation of cell prolif
eration
IBA biological_process
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043065 positive regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0043087 regulation of GTPase acti
vity
IEA biological_process
GO:0043380 regulation of memory T ce
ll differentiation
IEA biological_process
GO:0043565 sequence-specific DNA bin
ding
IEA molecular_function
GO:0043565 sequence-specific DNA bin
ding
IDA molecular_function
GO:0045596 negative regulation of ce
ll differentiation
IEA biological_process
GO:0045629 negative regulation of T-
helper 2 cell differentia
tion
IEA biological_process
GO:0045666 positive regulation of ne
uron differentiation
IEA biological_process
GO:0045746 negative regulation of No
tch signaling pathway
IEA biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IMP biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
NAS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0046872 metal ion binding
IEA molecular_function
GO:0048294 negative regulation of is
otype switching to IgE is
otypes
IEA biological_process
GO:0048821 erythrocyte development
IEA biological_process
GO:0050727 regulation of inflammator
y response
IEA biological_process
GO:0050727 regulation of inflammator
y response
IBA biological_process
GO:0050767 regulation of neurogenesi
s
IBA biological_process
GO:0050776 regulation of immune resp
onse
NAS biological_process
GO:0051272 positive regulation of ce
llular component movement
IEA biological_process
GO:2000773 negative regulation of ce
llular senescence
IEA biological_process
GO:0005657 replication fork
IDA cellular_component
GO:0000060 protein import into nucle
us, translocation
IGI biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0002634 regulation of germinal ce
nter formation
NAS biological_process
GO:0002903 negative regulation of B
cell apoptotic process
NAS biological_process
GO:0003682 chromatin binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IMP molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0006974 cellular response to DNA
damage stimulus
IDA biological_process
GO:0030099 myeloid cell differentiat
ion
IBA biological_process
GO:0030308 negative regulation of ce
ll growth
IDA biological_process
GO:0042092 type 2 immune response
IBA biological_process
GO:0042127 regulation of cell prolif
eration
IBA biological_process
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043065 positive regulation of ap
optotic process
IDA biological_process
GO:0043565 sequence-specific DNA bin
ding
IDA molecular_function
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IMP biological_process
GO:0045892 negative regulation of tr
anscription, DNA-template
d
NAS biological_process
GO:0050727 regulation of inflammator
y response
IBA biological_process
GO:0050767 regulation of neurogenesi
s
IBA biological_process
GO:0050776 regulation of immune resp
onse
NAS biological_process
GO:0005657 replication fork
IDA cellular_component

KEGG pathways

hsa04068  FoxO signaling pathway
hsa05202  Transcriptional misregulation in cancer

Diseases

Associated diseases References
Atopy PMID: 9831352
Endometriosis PMID: 26148093
Follicle center lymphoma PMID: 11911418
Hairy-cell leukemia KEGG: H00006
Lymphoma OMIM: 109565
Primary bone lymphomas PMID: 14513282
Endometriosis INFBASE26054109

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26054109 Endometrio
sis

98 (46 with end
ometriosis, 52
with benign tum
ors)
IL-1
TNF
IgG
IgA
Bcl-6
Blimp-1
Show abstract