BCL11A BCL11 transcription factor A
Gene ID: 53335, updated on 28-Oct-2024Gene type: protein coding
Also known as: EVI9; CTIP1; DILOS; ZNF856; HBFQTL5; SMARCM1
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- Go to complete Gene record for BCL11A
- Go to Variation Viewer for BCL11A variants
Summary
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, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. GeneReviews: Not available | |
| A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. GeneReviews: Not available | |
| Dias-Logan syndrome | See labs |
| Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. GeneReviews: Not available | |
| Genetic and clinical correlates of early-outgrowth colony-forming units. GeneReviews: Not available | |
| Genetic determinants of haemolysis in sickle cell anaemia. GeneReviews: Not available | |
| Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania. GeneReviews: Not available | |
| Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. GeneReviews: Not available | |
| Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. GeneReviews: Not available | |
| Genome-wide association study in German patients with attention deficit/hyperactivity disorder. GeneReviews: Not available | |
| Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia. GeneReviews: Not available | |
| Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. GeneReviews: Not available | |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. GeneReviews: Not available | |
| Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GeneReviews: Not available | |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available | |
| The Genetics of Hemoglobin A2 Regulation in Sickle Cell Anemia. GeneReviews: Not available | |
| Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2017-04-13) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-04-13) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 2p16.1
- Sequence:
- Chromosome: 2; NC_000002.12 (60450520..60553924, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BCL11A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BCL11A @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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