protein
BCL11 transcription factor A
Gene
BCL11A
Organism
Homo sapiens(9606)
Length
835 aa
Mass
91,197 Da
BCL11A is a zinc-finger transcription factor that functions as a component of the BAF SWI/SNF chromatin remodeling complex (UniProt: Q9H165). It binds specific DNA sequence motifs to regulate target genes, particularly controlling the developmental switch from fetal to adult hemoglobin by repressing the HBG1 gene. Beyond hematologic function, BCL11A is involved in brain development and lymphopoiesis, including B-cell formation in fetal liver.
Mutations in BCL11A cause intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH), an autosomal dominant condition characterized by delayed psychomotor development, intellectual disability, microcephaly, dysmorphic features, and abnormally persistent fetal hemoglobin levels (UniProt: Q9H165). The disorder illustrates BCL11A's critical role in both neurological and hematologic development.
BCL11A is classified as a syndromic autism spectrum disorder (ASD) risk gene (SFARI Cat 1). This classification reflects associations with neurodevelopmental phenotypes, though the primary disease manifestation—IDPFH—is characterized more broadly by intellectual disability rather than autism-specific features.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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 distal promoter of the HBG1 hemoglobin subunit gamma-1 gene (PubMed:29606353, PubMed:39423807). 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:26375765, PubMed:29606353, PubMed:39423807, PubMed:39607926). Involved in brain development (PubMed:27453576). May play a role in hematopoiesis (By similarity). Essential factor in lymphopoiesis required for B-cell formation in fetal liver (By similarity). May function as a modulator of the transcriptional repression activity of NR2F2 (By similarity)
Disease associations
Intellectual developmental disorder with persistence of fetal hemoglobinIDPFH
An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin.
Sources
Last updated 5/6/2026, 5:25:46 AM