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Gene

BCL11A

BCL11 transcription factor A

Summary

Cytogenetic location
2p16.1
Coordinates
Chromosome 2: 60,457,194–60,553,654 (GRCh38)
Exons
4 exons across 96.5 kb
Protein
835 amino acids
Also known as
BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856, SMARCM1
Previous symbols
EVI9
MANE Select transcript
ENST00000642384.2NM_022893.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

No Genome Test report reads BCL11A yet. The test sequences your whole genome, so your data includes it all the same.

How BCL11A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where BCL11A sits. BCL11A and 3 genes near it on chromosome 2, from 60,005,424 to 61,005,423.Chromosome 22p16.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.360.2 Mb60.4 Mb60.6 Mb60.8 Mb61 MbBCL11A: 60,457,194–60,553,654, reverse strandBCL11APAPOLG: 60,756,232–60,802,086, forward strandPAPOLGREL: 60,881,491–60,940,021, forward strandRELPUS10: 60,938,124–61,018,284, reverse strandPUS10Diagram of BCL11A: 4 exons on the reverse strand of chromosome 2Exon 4: 19 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 4: 60,457,194–60,462,424, 5,231 basesExon 3: 60,468,732–60,468,833, 102 basesExon 2: 60,545,971–60,546,300, 330 basesExon 1: 60,553,216–60,553,654, 439 bases43215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6.1 kb of the gene's 96.5 kb; 2,508 of those bases code for the protein.

How a genome test reads BCL11A

34

positions in BCL11A where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 96.5 kb of BCL11A, introns included, not only the 6.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). BCL11A gene: BCL11 transcription factor A. Retrieved 17 October 2026, from https://dantelabs.com/genes/bcl11a

Vancouver

Dante Labs. BCL11A gene: BCL11 transcription factor A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bcl11a

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