Developmental Brain Disorder Gene Database
LoF Variant Gene
- Unique Cases:
- ID, ASD, EP, CP
- Last Updated:
- September 1, 2022
- DBD Genes Classification
- BCL11A is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
- Gene Function
- Transcription factor (PubMed:16704730, PubMed:29606353). Associated with the BAF SWI/SNF chromatin remodeling complex (PubMed:23644491). Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a distal promoter of the HBG1 hemoglobin subunit gamma-1 gene (PubMed:29606353). Involved in regulation of the developmental switch from gamma- to beta-globin, probably via direct repression of HBG1; hence indirectly repressing fetal hemoglobin (HbF) level (PubMed:29606353... (Source: Uniprot)
- Previous symbols
- Alias symbols
- BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856, SMARCM1
- Chromosomal Location
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy, Cerebral Palsy
|Balci TB et. al., Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A., Eur J Med Genet, 2015|
|Dias C et. al., BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription., Am J Hum Genet, 2016|
|Yoshida M et. al., Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum., Clin Genet, 2018|
|Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019|
|et. al., , ,|
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