Human Gene BCL11B (ENST00000357195.8_8) from GENCODE V47lift37
  Description: BAF chromatin remodeling complex subunit BCL11B, transcript variant 1 (from RefSeq NM_138576.4)
Gencode Transcript: ENST00000357195.8_8
Gencode Gene: ENSG00000127152.18_13
Transcript (Including UTRs)
   Position: hg19 chr14:99,635,624-99,738,534 Size: 102,911 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr14:99,640,488-99,737,555 Size: 97,068 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:99,635,624-99,738,534)mRNA (may differ from genome)Protein (894 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BC11B_HUMAN
DESCRIPTION: RecName: Full=B-cell lymphoma/leukemia 11B; Short=BCL-11B; AltName: Full=B-cell CLL/lymphoma 11B; AltName: Full=COUP-TF-interacting protein 2; AltName: Full=Radiation-induced tumor suppressor gene 1 protein; Short=hRit1;
FUNCTION: Tumor-suppressor protein involved in T-cell lymphomas. May function on the P53-signaling pathway. May be a key regulator of both differentiation and survival during thymocyte development. Repress transcription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity).
SUBUNIT: Interacts with TFCOUP1, SIRT1, ARP1 and EAR2 (By similarity).
SUBCELLULAR LOCATION: Nucleus (Potential).
TISSUE SPECIFICITY: Highly expressed in brain and in malignant T- cell lines derived from patients with adult T-cell leukemia/lymphoma.
SIMILARITY: Contains 6 C2H2-type zinc fingers.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL11BID392.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BCL11B
Diseases sorted by gene-association score: immunodeficiency 49* (1278), combined t cell and b cell immunodeficiency* (202), lymphoma (19), adult t-cell leukemia (16), quadriplegia (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.73 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 73.11 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -361.70979-0.369 Picture PostScript Text
3' UTR -1362.504864-0.280 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

SCOP Domains:
57667 - beta-beta-alpha zinc fingers

ModBase Predicted Comparative 3D Structure on Q9C0K0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0003334 keratinocyte development
GO:0003382 epithelial cell morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007165 signal transduction
GO:0007409 axonogenesis
GO:0008285 negative regulation of cell proliferation
GO:0009791 post-embryonic development
GO:0010468 regulation of gene expression
GO:0010837 regulation of keratinocyte proliferation
GO:0019216 regulation of lipid metabolic process
GO:0021773 striatal medium spiny neuron differentiation
GO:0021902 commitment of neuronal cell to specific neuron type in forebrain
GO:0021953 central nervous system neuron differentiation
GO:0022008 neurogenesis
GO:0031077 post-embryonic camera-type eye development
GO:0033077 T cell differentiation in thymus
GO:0033153 T cell receptor V(D)J recombination
GO:0035701 hematopoietic stem cell migration
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043066 negative regulation of apoptotic process
GO:0043368 positive T cell selection
GO:0043588 skin development
GO:0045664 regulation of neuron differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046632 alpha-beta T cell differentiation
GO:0048538 thymus development
GO:0071678 olfactory bulb axon guidance
GO:0097535 lymphoid lineage cell migration into thymus

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0043005 neuron projection


-  Descriptions from all associated GenBank mRNAs
  AJ404614 - Homo sapiens mRNA for B-cell lymphoma/leukaemia 11B (BCL11B gene).
AB041218 - Homo sapiens ATL1-alpha mRNA for ATL1-alpha zinc finger protein, complete cds.
AB057668 - Homo sapiens ATL1-beta mRNA for ATL1-beta zinc finger protein, complete cds.
AB057669 - Homo sapiens ATL1-gamma mRNA for ATL1-gamma zinc finger protein, complete cds.
AB057670 - Homo sapiens ATL1-delta mRNA for ATL1-delta zinc finger protein, complete cds.
JD192609 - Sequence 173633 from Patent EP1572962.
JD166748 - Sequence 147772 from Patent EP1572962.
JD262697 - Sequence 243721 from Patent EP1572962.
JD494675 - Sequence 475699 from Patent EP1572962.
JD356927 - Sequence 337951 from Patent EP1572962.
JD429177 - Sequence 410201 from Patent EP1572962.
JD386672 - Sequence 367696 from Patent EP1572962.
JD354207 - Sequence 335231 from Patent EP1572962.
JD555374 - Sequence 536398 from Patent EP1572962.
JD130479 - Sequence 111503 from Patent EP1572962.
JD472761 - Sequence 453785 from Patent EP1572962.
JD262744 - Sequence 243768 from Patent EP1572962.
JD297117 - Sequence 278141 from Patent EP1572962.
JD433279 - Sequence 414303 from Patent EP1572962.
JD296604 - Sequence 277628 from Patent EP1572962.
JD297863 - Sequence 278887 from Patent EP1572962.
JD409955 - Sequence 390979 from Patent EP1572962.
JD049035 - Sequence 30059 from Patent EP1572962.
JD234626 - Sequence 215650 from Patent EP1572962.
JD330566 - Sequence 311590 from Patent EP1572962.
JD138076 - Sequence 119100 from Patent EP1572962.
JD460693 - Sequence 441717 from Patent EP1572962.
JD492461 - Sequence 473485 from Patent EP1572962.
JD144961 - Sequence 125985 from Patent EP1572962.
JD306195 - Sequence 287219 from Patent EP1572962.
AF086271 - Homo sapiens full length insert cDNA clone ZD44G02.
JD091619 - Sequence 72643 from Patent EP1572962.
JD344949 - Sequence 325973 from Patent EP1572962.
JD059486 - Sequence 40510 from Patent EP1572962.
JD491071 - Sequence 472095 from Patent EP1572962.
JD428195 - Sequence 409219 from Patent EP1572962.
JD062784 - Sequence 43808 from Patent EP1572962.
JD554322 - Sequence 535346 from Patent EP1572962.
JD495243 - Sequence 476267 from Patent EP1572962.
JD544596 - Sequence 525620 from Patent EP1572962.
JD294541 - Sequence 275565 from Patent EP1572962.
JD205316 - Sequence 186340 from Patent EP1572962.
JD082249 - Sequence 63273 from Patent EP1572962.
JD223699 - Sequence 204723 from Patent EP1572962.
JD349375 - Sequence 330399 from Patent EP1572962.
JD466589 - Sequence 447613 from Patent EP1572962.
JD231974 - Sequence 212998 from Patent EP1572962.
JD501758 - Sequence 482782 from Patent EP1572962.
JD485747 - Sequence 466771 from Patent EP1572962.
JD070850 - Sequence 51874 from Patent EP1572962.
AB043584 - Homo sapiens mRNA for zinc finger protein hRit1 alpha, complete cds.
JD395935 - Sequence 376959 from Patent EP1572962.
BC156139 - Synthetic construct Homo sapiens clone IMAGE:100062485, MGC:190529 B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B) mRNA, encodes complete protein.
AY752976 - Homo sapiens B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein (BCL11B/TRDC fusion) mRNA, complete cds.
AY752978 - Homo sapiens truncated B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein (BCL11B/TCRD fusion) mRNA, partial cds.
JD084818 - Sequence 65842 from Patent EP1572962.
JD178399 - Sequence 159423 from Patent EP1572962.
JD380192 - Sequence 361216 from Patent EP1572962.
JD042604 - Sequence 23628 from Patent EP1572962.
JD062138 - Sequence 43162 from Patent EP1572962.
JD067007 - Sequence 48031 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BC11B_HUMAN, CTIP2, ENST00000357195.1, ENST00000357195.2, ENST00000357195.3, ENST00000357195.4, ENST00000357195.5, ENST00000357195.6, ENST00000357195.7, NM_138576, Q9C0K0, Q9H162, RIT1, uc317zxu.1, uc317zxu.2
UCSC ID: ENST00000357195.8_8
RefSeq Accession: NM_138576.4
Protein: Q9C0K0 (aka BC11B_HUMAN or BC1B_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.