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Gene

BCL11B

BCL11 transcription factor B

Summary

Cytogenetic location
14q32.2
Coordinates
Chromosome 14: 99,169,287–99,272,197 (GRCh38)
Exons
4 exons across 102.9 kb
Protein
894 amino acids
Inheritance
Autosomal recessive
Also known as
CTIP-2, CTIP2, hRIT1-alpha, SMARCM2
Previous symbols
ZNF856B
MANE Select transcript
ENST00000357195.8NM_138576.4
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

  • Severe Combined Immunodeficiency

    • Autosomal recessive

      Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.

      • 1 GenCC submitter rates it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • 1 GenCC submitter rates it definitive or strong
    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

  • Intellectual Disability

    • One of 233 genes linked to it

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How BCL11B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where BCL11B sits. BCL11B and 5 genes near it on chromosome 14, from 98,720,742 to 99,720,741.Chromosome 1414q32.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3398.8 Mb99 Mb99.2 Mb99.4 Mb99.6 MbBCL11B: 99,169,287–99,272,197, reverse strandBCL11BSETD3: 99,395,061–99,480,927, reverse strandSETD3CCNK: 99,481,169–99,535,044, forward strandCCNKCCDC85C: 99,500,190–99,604,265, reverse strandCCDC85CHHIPL1: 99,645,122–99,680,569, forward strandHHIPL1CYP46A1: 99,684,199–99,727,319, forward strandCYP46A1Diagram of BCL11B: 4 exons on the reverse strand of chromosome 14Exon 4: 34 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 4: 99,169,287–99,176,195, 6,909 basesExon 3: 99,231,345–99,231,557, 213 basesExon 2: 99,257,471–99,257,839, 369 basesExon 1: 99,271,161–99,272,197, 1,037 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 8.5 kb of the gene's 102.9 kb; 2,685 of those bases code for the protein.

How a genome test reads BCL11B

36

positions in BCL11B 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 102.9 kb of BCL11B, introns included, not only the 8.5 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.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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.). BCL11B gene: BCL11 transcription factor B. Retrieved 17 October 2026, from https://dantelabs.com/genes/bcl11b

Vancouver

Dante Labs. BCL11B gene: BCL11 transcription factor B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bcl11b

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