BCL11A
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BCL11A (HGNC:13221) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
BCL11 transcription factor A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
EVI9
Alias symbols
BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856, SMARCM1
%HI
0.61(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.13(Read more about gnomAD LOEUF score)
Cytoband
2p16.1
Genomic Coordinates
GRCh37/hg19: chr2:60677655-60780789 NCBI Ensembl UCSC
GRCh38/hg38: chr2:60450520-60553924 NCBI Ensembl UCSC
MANE Select Transcript
NM_022893.4 ENST00000642384.2 (Read more about MANE Select)
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)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24032
ClinGen Curation ID:
CCID:006741
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
04/13/2017

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 27453576
    Dias et al (2016) report a unique de novo variant in the BCL11A gene in each of nine individuals with intellectual disability, strabismus, persistence of fetal hemoglobin, and other findings such as joint hypermobility, behavior abnormalities, facial dysmorphism and microcephaly (three missense, three nonsense, and three frameshift). Two of the nonsense variants were in exon 2 of this 4-5 exon gene (depending on transcript). Variants were detected by whole exome sequencing. Functional studies of missense mutations were consistent with loss of function and haploinsufficiency of Bcl11a in mice causes impaired cognition and behavior and microcephaly.
  • PUBMED: 25938782
    Basak et al (2015) found BCL11A as the only gene in the smallest region of overlap in three patients with different de novo deletions from 2p15 to 2p16.1, autism, hypotonia, facial dysmorphism, developmental delay, and persistent fetal hemoglobin. Deletions were detected by aCGH.
  • PUBMED: 25979662
    Balci et al (2015) report a de novo 0.875 Mb deletion encompassing only BCL11A detected by aCGH in a patient with developmental delay, brain malformations, and dysmorphic features. The entire BCL11A gene is included in the deleted interval and no other significant CNVs were observed in this patient.
HI Evidence Comments:
Loss of function changes in the BCL11A gene cause developmental delay, dysmorphic features, and persistent fetal hemoglobin. Additional publication, PMID 24810580: Peter et al (2014) report a de novo 0.2 Mb deletion containing only the BCL11A gene in a patient with speech apraxia and dysarthria, gross motor apraxia, hypotonia, and mild intellectual disability. Array CGH also detected two small duplications of unknown inheritance in this patient.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No reports of duplications involving only BCL11A

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)