• Gene id: 64919

Gene Summary

• Gene Symbol: BCL11B   Gene   UCSC   Ensembl
• Aliases: ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, CTIP-2, CTIP2, IDDFSTA, IMD49, RIT1, ZNF856B, hRIT1-alpha
• Gene name: BAF chromatin remodeling complex subunit BCL11B
• Alternate names: B-cell lymphoma/leukemia 11B, B cell CLL/lymphoma 11B, B-cell CLL/lymphoma 11B (zinc finger protein), B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein, B-cell lymphoma/leukaemia 11B, BCL-11B, BCL11B, BAF complex component, BCL11B/TRDC,
• Gene location: 14q32.2 (99272196: 99169286)     Exons: 4     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 606558

Protein Summary

• Protein general information: Q9C0K0  
  • 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)
  • Length: 894  
  • Mass: 95519
  • Tissue specificity: Highly expressed in brain and in malignant T-cell lines derived from patients with adult T-cell leukemia/lymphoma.
• Sequence:

  MSRRKQGNPQHLSQRELITPEADHVEAAILEEDEGLEIEEPSGLGLMVGGPDPDLLTCGQCQMNFPLGDILVFIE
  HKRKQCGGSLGACYDKALDKDSPPPSSRSELRKVSEPVEIGIQVTPDEDDHLLSPTKGICPKQENIAGPCRPAQL
  PAVAPIAASSHPHSSVITSPLRALGALPPCLPLPCCSARPVSGDGTQGEGQTEAPFGCQCQLSGKDEPSSYICTT
  CKQPFNSAWFLLQHAQNTHGFRIYLEPGPASSSLTPRLTIPPPLGPEAVAQSPLMNFLGDSNPFNLLRMTGPILR
  DHPGFGEGRLPGTPPLFSPPPRHHLDPHRLSAEEMGLVAQHPSAFDRVMRLNPMAIDSPAMDFSRRLRELAGNSS
  TPPPVSPGRGNPMHRLLNPFQPSPKSPFLSTPPLPPMPPGGTPPPQPPAKSKSCEFCGKTFKFQSNLIVHRRSHT
  GEKPYKCQLCDHACSQASKLKRHMKTHMHKAGSLAGRSDDGLSAASSPEPGTSELAGEGLKAADGDFRHHESDPS
  LGHEPEEEDEEEEEEEEELLLENESRPESSFSMDSELSRNRENGGGGVPGVPGAGGGAAKALADEKALVLGKVME
  NVGLGALPQYGELLADKQKRGAFLKRAAGGGDAGDDDDAGGCGDAGAGGAVNGRGGGFAPGTEPFPGLFPRKPAP
  LPSPGLNSAAKRIKVEKDLELPPAALIPSENVYSQWLVGYAASRHFMKDPFLGFTDARQSPFATSSEHSSENGSL
  RFSTPPGDLLDGGLSGRSGTASGGSTPHLGGPGPGRPSSKEGRRSDTCEYCGKVFKNCSNLTVHRRSHTGERPYK
  CELCNYACAQSSKLTRHMKTHGQIGKEVYRCDICQMPFSVYSTLEKHMKKWHGEHLLTNDVKIEQAERS

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • DIP: 44025
  • STRING: ENSP00000349723
• Other Databases: GeneCards:  BCL11B  Malacards:  BCL11B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0007275	multicellular organism development	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0097535	lymphoid lineage cell migration into thymus	IMP	biological process
GO:0035701	hematopoietic stem cell migration	IMP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
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:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0019216	regulation of lipid metabolic process	IEA	biological process
GO:0021773	striatal medium spiny neuron differentiation	IEA	biological process
GO:0033153	T cell receptor V(D)J recombination	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0046632	alpha-beta T cell differentiation	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0003334	keratinocyte development	IEA	biological process
GO:0003382	epithelial cell morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007409	axonogenesis	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010837	regulation of keratinocyte proliferation	IEA	biological process
GO:0021902	commitment of neuronal cell to specific neuron type in forebrain	IEA	biological process
GO:0021953	central nervous system neuron differentiation	IEA	biological process
GO:0031077	post-embryonic camera-type eye development	IEA	biological process
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0043368	positive T cell selection	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0045664	regulation of neuron differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0071678	olfactory bulb axon guidance	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq