BCL11B - BCL11 transcription factor B Gene
Also Known as ATL1; RIT1; CTIP2; IMD49; CTIP-2; IDDFSTA; SMARCM2; ZNF856B; ATL1-beta; ATL1-alpha; ATL1-delta; ATL1-gamma; hRIT1-alpha
Species: Homo sapiens
About BCL11B
This gene has 3 transcripts (splice variants), 197 orthologues, 14 paralogues and is associated with 83 phenotypes. Biased expression in skin (RPKM 7.8), lymph node (RPKM 5.6) and 13 other tissues.
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 be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
BCL11B Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001282237.2 | NP_001269166.1 | B-cell lymphoma/leukemia 11B isoform 3 |
| NM_001282238.2 | NP_001269167.1 | B-cell lymphoma/leukemia 11B isoform 4 |
| NM_022898.3 | NP_075049.1 | B-cell lymphoma/leukemia 11B isoform 2 |
| NM_138576.4 | NP_612808.1 | B-cell lymphoma/leukemia 11B isoform 1 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17245431 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in hematopoietic stem cell migration |
IMP
IMP: Inferred from mutant phenotype
|
27959755 | GOA |
| involved in lymphoid lineage cell migration into thymus |
IMP
IMP: Inferred from mutant phenotype
|
27959755 | GOA |
| acts upstream of or within positive regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
16809611 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| part of SWI/SNF complex |
IDA
IDA: Inferred from direct assay
|
23644491 | GOA |
BCL11B Protein Structure
zf-C2H2_6: C2H2-type zinc finger (56 - 82)
zf-H2C2_2: Zinc-finger double domain (441 - 464)
zf-H2C2_2: Zinc-finger double domain (810 - 834)
zf-C2H2: Zinc finger, C2H2 type (854 - 877)
- 0
- 200
- 400
- 600
- 800
- 894 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
B-cell lymphoma/leukemia 11B |
|
BCL11B Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
BCL11B | Q9C0K0 | HDAC2 | Homo sapiens | Q92769 | 33961781 | |
|
Intra
|
BCL11B | Q9C0K0 | HDAC2 | Homo sapiens | Q92769 | 17245431 | |
|
Intra
|
BCL11B | Q9C0K0 | HDAC1 | Homo sapiens | Q13547 | 33961781 | |
|
Intra
|
BCL11B | Q9C0K0 | SUV39H1 | Homo sapiens | O43463 | 17245431 | |
|
Intra
|
BCL11B | Q9C0K0 | SUV39H1 | Homo sapiens | O43463 | 17245431 |
BCL11B Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P80095 | Ctip2 Antibody (YA488) | WB, ICC/IF, IHC-P, FC | Human, Mouse |
| HY-P84782 | Ctip2 Antibody (YA4479) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84782A | Ctip2 Antibody (YA4479)(PBS only) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P86586 | Ctip2 Antibody (YA6278) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Immunodeficiency 49 |
|
|
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
|
| Combined Immunodeficiency |
|
|
| Combined T And B Cell Immunodeficiency |
|
|
| Adult T-Cell Leukemia/Lymphoma |
|
|
| Lymphoma |
|
|
| B-Cell Lymphoma |
|
|
| Leukemia |
|
|
| Mixed Phenotype Acute Leukemia, T/Myeloid |
|
|
| Severe Combined Immunodeficiency |
|
|
| Microcephaly |
|
|
| Spastic Quadriplegia |
|
|
| Zika Virus Congenital Syndrome |
|
|
| Developmental And Epileptic Encephalopathy 66 |
|
|
| Splenic Manifestation Of Leukemia |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Quadriplegia |
|
|
| Aneurysm, Intracranial Berry, 12 |
|
|
| Glass Syndrome |
|
|
| Huntington Disease |
|
|
| Periventricular Nodular Heterotopia |
|
|
| Primary Autosomal Recessive Microcephaly |
|
|
| Congenital Nervous System Abnormality |
|
|
| Parkinson Disease, Late-Onset |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | BCL11B | RGD | RGD:1311128 |
| Mus musculus | BCL11B | MGD | MGI:1929913 |
| Felis catus | BCL11B | VGNC | VGNC:104360 |
| Bos taurus | BCL11B | VGNC | VGNC:58470 |
| Macaca mulatta | BCL11B | VGNC | VGNC:70056 |
| Canis familiaris | BCL11B | VGNC | VGNC:57981 |
| Others | BCL11B | NCBI |