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BCL11A (BCL11 transcription factor A)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
53335
Gene nameGene Name - the full gene name approved by the HGNC.
BCL11 transcription factor A
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BCL11A
SynonymsGene synonyms aliases
CTIP1, DILOS, EVI9, HBFQTL5, SMARCM1, ZNF856
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p16.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs11886868 C>T Likely-pathogenic, benign Intron variant
rs761909641 ->G Pathogenic Frameshift variant, coding sequence variant, intron variant
rs768799046 ->G,GGGG,GGGTTTTGAAGGGGGGGGGGGGGGGG Pathogenic Frameshift variant, intron variant, coding sequence variant
rs886037864 T>G Pathogenic Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant, 5 prime UTR variant
rs886037865 C>A Pathogenic Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant, 5 prime UTR variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019481 hsa-miR-148b-3p Microarray 17612493
MIRT019603 hsa-miR-340-5p Sequencing 20371350
MIRT020396 hsa-miR-29c-3p Sequencing 20371350
MIRT026052 hsa-miR-196a-5p Sequencing 20371350
MIRT028335 hsa-miR-32-5p Sequencing 20371350
Transcription factors
Transcription factor Regulation Reference
FOXQ1 Activation 20145154
SIRT1 Repression 15639232
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 19153051
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 19153051
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 19153051
GO:0003700 Function DNA-binding transcription factor activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9H165
Protein name BCL11 transcription factor A (B-cell CLL/lymphoma 11A) (B-cell lymphoma/leukemia 11A) (BCL-11A) (COUP-TF-interacting protein 1) (Ecotropic viral integration site 9 protein homolog) (EVI-9) (Zinc finger protein 856)
Protein function Transcription factor (PubMed:16704730, PubMed:29606353). Associated with the BAF SWI/SNF chromatin remodeling complex (PubMed:23644491, PubMed:39607926). Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a
PDB 5VTB , 6KI6 , 6U9Q , 8DTN , 8DTU , 8THO , 8TLO , 9B4P , 9BV0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2
378 399
Zinc finger, C2H2 type
Domain
PF00096 zf-C2H2
405 427
Zinc finger, C2H2 type
Domain
PF00096 zf-C2H2
742 764
Zinc finger, C2H2 type
Domain
PF00096 zf-C2H2
770 792
Zinc finger, C2H2 type
Domain
PF00096 zf-C2H2
800 823
Zinc finger, C2H2 type
Domain
Sequence
MSRRKQGKPQHLSKREFSPEPLEAILTDDEPDHGPLGAPEGDHDLLTCGQCQMNFPLGDI
LIFIEHKRKQCNGSLCLEKAVDKPPSPSPIEMKKASNPVEVGIQVTPEDDDCLSTSSRGI
CPKQEHIADKLLHWRGLSSPRSAHGALIPTPGMSAEYAPQGICKDEPSSYTCTTCKQPFT
SAWFLLQHAQNTHGLRIYLESEHGSPLTPRVGIPSGLGAECPSQPPLHGIHIADNNPFNL
LRIPGSVSREASGLAEGRFPPTPPLFSPPPRHHLDPHRIERLGAEEMALATHHPSAFDRV
LRLNPMAMEPPAMDFSRRLRELAGNTSSPPLSPGRPSPMQRLLQPFQPGSKPPFLATPPL
PPLQSAPPPSQPPVKSKSCEFCGKTFKFQSNLVVHRRSHTGEKPYKCNLCDHACTQASKL
KRHMKTH
MHKSSPMTVKSDDGLSTASSPEPGTSDLVGSASSALKSVVAKFKSENDPNLIP
ENGDEEEEEDDEEEEEEEEEEEEELTESERVDYGFGLSLEAARHHENSSRGAVVGVGDES
RALPDVMQGMVLSSMQHFSEAFHQVLGEKHKRGHLAEAEGHRDTCDEDSVAGESDRIDDG
TVNGRGCSPGESASGGLSKKLLLGSPSSLSPFSKRIKLEKEFDLPPAAMPNTENVYSQWL
AGYAASRQLKDPFLSFGDSRQSPFASSSEHSSENGSLRFSTPPGELDGGISGRSGTGSGG
STPHISGPGPGRPSSKEGRRSDTCEYCGKVFKNCSNLTVHRRSHTGERPYKCELCNYACA
QSSKLTRHMKTH
GQVGKDVYKCEICKMPFSVYSTLEKHMKKWHSDRVLNNDIKTE
Sequence length 835
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 16762588
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Anemia Anemia, Sickle Cell rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 21326311, 25372704, 25042611, 23406172
Apraxia Apraxias, Ideational Apraxia, Apraxia of Phonation, Apraxia, Verbal, Apraxia, Oral, Apraxia, Developmental Verbal rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672 27120335
Unknown
Disease name Disease term dbSNP ID References
Auditory processing disorder Auditory Processing Disorder, Central 27120335
Benign prostatic hyperplasia Benign Prostatic Hyperplasia 30410027
Congenital epicanthus Congenital Epicanthus
Dysmorphic features Dysmorphic features 24267886, 11347906, 20623620, 25938782, 16704730, 12717432, 15548577, 25979662, 27453576, 22542183, 17021036, 23230003, 26182416, 15465497, 25363760, 17964244, 11161790, 10744719, 12196208, 22491945, 24810580, 28960836, 19616629, 25533962, 28589569

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