Entity Details

Primary name BC11B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9C0K0
EntryNameBC11B_HUMAN
FullNameB-cell lymphoma/leukemia 11B
TaxID9606
Evidenceevidence at protein level
Length894
SequenceStatuscomplete
DateCreated2004-03-01
DateModified2021-06-02

Ontological Relatives

GenesBCL11B

GO terms

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GOName
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003334 keratinocyte development
GO:0003382 epithelial cell morphogenesis
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0008285 negative regulation of cell population proliferation
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: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:0043005 neuron projection
GO:0043066 negative regulation of apoptotic process
GO:0043368 positive T cell selection
GO:0045664 regulation of neuron differentiation
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046632 alpha-beta T cell differentiation
GO:0046872 metal ion binding
GO:0048538 thymus development
GO:0071678 olfactory bulb axon guidance
GO:0097535 lymphoid lineage cell migration into thymus
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618092 OMIMIntellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities (IDDSFTA)An autosomal dominant developmental disorder with onset in first months of life, and characterized by delayed psychomotor development with intellectual disability and speech delay. Additional features include autistic features, attention deficit-hyperactivity disorder, anxiety, and other behavioral abnormalities. Some patients suffer from recurrent infections, asthma and allergies. The disease is caused by variants affecting the gene represented in this entry.
617237 OMIMImmunodeficiency 49 (IMD49)A form of severe combined immunodeficiency characterized by severe T-cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities. The disease is caused by variants affecting the gene represented in this entry.