Gene Gene information from NCBI Gene database.
Entrez ID 64919
Gene name BCL11 transcription factor B
Gene symbol BCL11B
Synonyms (NCBI Gene)
ATL1ATL1-alphaATL1-betaATL1-deltaATL1-gammaCTIP-2CTIP2IDDFSTAIMD49RIT1SMARCM2ZNF856BhRIT1-alpha
Chromosome 14
Chromosome location 14q32.2
Summary 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.
13
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.
560
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
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: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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606558 13222 ENSG00000127152
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
109
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Pathogenic rs2503652316 RCV003128003
BCL11B-related disorder Likely pathogenic rs1429625290, rs2503635576 RCV004527881
RCV004528768
Combined immunodeficiency Pathogenic rs750610248 RCV000241534
Immunodeficiency 49 Pathogenic; Likely pathogenic rs2139755925, rs2139753037, rs750610248, rs888230251 RCV003314011
RCV002246460
RCV000412543
RCV000678214
Associations from Text MiningDisease associations identified through Pubtator
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