• Gene id: 53335

Gene Summary

• Gene Symbol: BCL11A   Gene   UCSC   Ensembl
• Aliases: BCL11A-L, BCL11A-S, BCL11A-XL, BCL11a-M, CTIP1, DILOS, EVI9, HBFQTL5, ZNF856
• Gene name: BAF chromatin remodeling complex subunit BCL11A
• Alternate names: B-cell lymphoma/leukemia 11A, B cell CLL/lymphoma 11A, B-cell CLL/lymphoma 11A (zinc finger protein) isoform 2, BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1, BCL11A, BAF complex component, C2H2-type zinc finger protein, COUP-TF-interacting pro,
• Gene location: 2p16.1 (60553653: 60450519)     Exons: 9     NC_000002.12
• Gene summary(Entrez): This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, throug
• OMIM: 606557

Protein Summary

• Protein general information: Q9H165  
  • Name: B cell lymphoma/leukemia 11A (BCL 11A) (B cell CLL/lymphoma 11A) (COUP TF interacting protein 1) (Ecotropic viral integration site 9 protein homolog) (EVI 9) (Zinc finger protein 856)
  • Length: 835  
  • Mass: 91197
  • Tissue specificity: Expressed at high levels in brain, spleen thymus, bone marrow and testis. Expressed in CD34-positive myeloid precursor cells, B-cells, monocytes and megakaryocytes. Expression is tightly regulated during B-cell development. {ECO
• Sequence:

  MSRRKQGKPQHLSKREFSPEPLEAILTDDEPDHGPLGAPEGDHDLLTCGQCQMNFPLGDILIFIEHKRKQCNGSL
  CLEKAVDKPPSPSPIEMKKASNPVEVGIQVTPEDDDCLSTSSRGICPKQEHIADKLLHWRGLSSPRSAHGALIPT
  PGMSAEYAPQGICKDEPSSYTCTTCKQPFTSAWFLLQHAQNTHGLRIYLESEHGSPLTPRVGIPSGLGAECPSQP
  PLHGIHIADNNPFNLLRIPGSVSREASGLAEGRFPPTPPLFSPPPRHHLDPHRIERLGAEEMALATHHPSAFDRV
  LRLNPMAMEPPAMDFSRRLRELAGNTSSPPLSPGRPSPMQRLLQPFQPGSKPPFLATPPLPPLQSAPPPSQPPVK
  SKSCEFCGKTFKFQSNLVVHRRSHTGEKPYKCNLCDHACTQASKLKRHMKTHMHKSSPMTVKSDDGLSTASSPEP
  GTSDLVGSASSALKSVVAKFKSENDPNLIPENGDEEEEEDDEEEEEEEEEEEEELTESERVDYGFGLSLEAARHH
  ENSSRGAVVGVGDESRALPDVMQGMVLSSMQHFSEAFHQVLGEKHKRGHLAEAEGHRDTCDEDSVAGESDRIDDG
  TVNGRGCSPGESASGGLSKKLLLGSPSSLSPFSKRIKLEKEFDLPPAAMPNTENVYSQWLAGYAASRQLKDPFLS
  FGDSRQSPFASSSEHSSENGSLRFSTPPGELDGGISGRSGTGSGGSTPHISGPGPGRPSSKEGRRSDTCEYCGKV
  FKNCSNLTVHRRSHTGERPYKCELCNYACAQSSKLTRHMKTHGQVGKDVYKCEICKMPFSVYSTLEKHMKKWHSD
  RVLNNDIKTE

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • PDB: 5VTB 6KI6
  • PDBsum: 5VTB 6KI6
  • DIP: 45629
  • STRING: ENSP00000338774
• Other Databases: GeneCards:  BCL11A  Malacards:  BCL11A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:2000171	negative regulation of dendrite development	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0007275	multicellular organism development	IBA	biological process
GO:0016925	protein sumoylation	ISS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:2000173	negative regulation of branching morphogenesis of a nerve	IEA	biological process
GO:2000171	negative regulation of dendrite development	IEA	biological process
GO:1905232	cellular response to L-glutamate	IEA	biological process
GO:1904800	negative regulation of neuron remodeling	IEA	biological process
GO:1903860	negative regulation of dendrite extension	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Autism spectrum disorder	PMID:25363760
Sickle cell anemia	PMID:22360576
Sickle cell anemia	PMID:18667698
Beta thalassemia	PMID:25574177
Beta thalassemia	PMID:22258351
Beta thalassemia	PMID:25751242
Beta thalassemia	PMID:23541515
lung non-small cell carcinoma	PMID:23758992
Schizophrenia	PMID:25938782
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray