Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64919
Gene name Gene Name - the full gene name approved by the HGNC.
BCL11 transcription factor B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BCL11B
Synonyms (NCBI Gene) Gene synonyms aliases
ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, CTIP-2, CTIP2, IDDFSTA, IMD49, RIT1, SMARCM2, ZNF856B, hRIT1-alpha
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD49
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs750610248 A>C,G Pathogenic Synonymous variant, missense variant, coding sequence variant
rs888230251 G>A,C Pathogenic Coding sequence variant, synonymous variant, missense variant
rs1314314373 G>A,C Likely-pathogenic Stop gained, missense variant, coding sequence variant
rs1555376017 C>- Pathogenic Coding sequence variant, frameshift variant
rs1555376035 ->GTGTGGCT Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021103 hsa-miR-186-5p Sequencing 20371350
MIRT021908 hsa-miR-128-3p Sequencing 20371350
MIRT025027 hsa-miR-183-5p Sequencing 20371350
MIRT028285 hsa-miR-32-5p Sequencing 20371350
MIRT028968 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
GO:0003334 Process Keratinocyte development IEA
GO:0003382 Process Epithelial cell morphogenesis IEA
GO:0003700 Function DNA-binding transcription factor activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606558 13222 ENSG00000127152
Protein
UniProt ID Q9C0K0
Protein name B-cell lymphoma/leukemia 11B (BCL-11B) (B-cell CLL/lymphoma 11B) (COUP-TF-interacting protein 2) (Radiation-induced tumor suppressor gene 1 protein) (hRit1)
Protein function Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the recep
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 428 449 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 455 477 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 796 818 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 824 846 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 854 877 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain and in malignant T-cell lines derived from patients with adult T-cell leukemia/lymphoma.
Sequence
MSRRKQGNPQHLSQRELITPEADHVEAAILEEDEGLEIEEPSGLGLMVGGPDPDLLTCGQ
CQMNFPLGDILVFIEHKRKQCGGSLGACYDKALDKDSPPPSSRSELRKVSEPVEIGIQVT
PDEDDHLLSPTKGICPKQENIAGPCRPAQLPAVAPIAASSHPHSSVITSPLRALGALPPC
LPLPCCSARPVSGDGTQGEGQTEAPFGCQCQLSGKDEPSSYICTTCKQPFNSAWFLLQHA
QNTHGFRIYLEPGPASSSLTPRLTIPPPLGPEAVAQSPLMNFLGDSNPFNLLRMTGPILR
DHPGFGEGRLPGTPPLFSPPPRHHLDPHRLSAEEMGLVAQHPSAFDRVMRLNPMAIDSPA
MDFSRRLRELAGNSSTPPPVSPGRGNPMHRLLNPFQPSPKSPFLSTPPLPPMPPGGTPPP
QPPAKSKSCEFCGKTFKFQSNLIVHRRSHTGEKPYKCQLCDHACSQASKLKRHMKTHMHK
AGSLAGRSDDGLSAASSPEPGTSELAGEGLKAADGDFRHHESDPSLGHEPEEEDEEEEEE
EEELLLENESRPESSFSMDSELSRNRENGGGGVPGVPGAGGGAAKALADEKALVLGKVME
NVGLGALPQYGELLADKQKRGAFLKRAAGGGDAGDDDDAGGCGDAGAGGAVNGRGGGFAP
GTEPFPGLFPRKPAPLPSPGLNSAAKRIKVEKDLELPPAALIPSENVYSQWLVGYAASRH
FMKDPFLGFTDARQSPFATSSEHSSENGSLRFSTPPGDLLDGGLSGRSGTASGGSTPHLG
GPGPGRPSSKEGRRSDTCEYCGKVFKNCSNLTVHRRSHTGERPYKCELCNYACAQSSKLT
RHMKTH
GQIGKEVYRCDICQMPFSVYSTLEKHMKKWHGEHLLTNDVKIEQAERS
Sequence length 894
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Transcriptional misregulation in cancer  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933 27959755
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Cutis laxa Cutis Laxa rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811
View all (31 more)
Dermatitis Inflammatory dermatosis rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174
Unknown
Disease term Disease name Evidence References Source
Bipolar Disorder Bipolar Disorder GWAS
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Dementia Dementia GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alcoholism Associate 28981154
Altitude Sickness Inhibit 33393628
Asthma Associate 30426778
Basal cell carcinoma infundibulocystic Associate 28943543
Bone Diseases Developmental Associate 39455000
Breast Neoplasms Inhibit 23936147
Carcinogenesis Associate 37293953
Carcinoma Basal Cell Associate 20824091
Carcinoma Hepatocellular Associate 37293953
Cerebral Palsy Associate 36683525