Information on BACH2
Basic details
Alt. symbols: BTBD25
Approved name: BTB domain and CNC homolog 2
Alt. names: BTB and CNC homology 1, basic leucine zipper transcription factor 2
Location: 6q15: 89926528 - 90296843 (-)
Gene type: protein_coding, 13 transcripts.
Scores: LoFtool: 0.084500 | pLI: 0.87403985 | LOEUF: 0.233
Normal function
BACH2 encodes a transcription factor that functions within multiple innate and adaptive lineages to control immune responses. BACH2 is a member of the Bach family of basic leucine zipper transcription factors. BACH2 function has been predominantly investigated in mouse B cells, where it is known to repress expression of B lymphocyte–induced maturation protein 1 (Blimp-1). Conditional knockout of Bach2 in the B cell lineage in mice has shown that Bach2 downregulation is essential not only for Blimp-1 de-repression and differentiation of B cells into plasma cells, but also for class switch recombination leading to IgG1 secretion (Richer M. et al., 2016).
Dysfunction and disease
Certain germline missense variants in BACH2 - at least p.L24P and p.E788K - have been associated with Mendelian BACH2-related immunodeficiency and autoimmunity (BRIDA) syndrome in humans, also known as Immunodeficiency 60 [MIM:618394] (Afzali et al., 2017; PMID: 28530713). This syndrome is caused by haploinsufficiency of this transcription factor. The 3 subjects from the 2 families reported by Afzali et al. had been previously diagnosed with CVID. Additionally, BACH2 has also been linked to some autoimmune conditions, including systemic lupus erythematosus (SLE), as some mouse studies have shown (Zhang H. et al., 2019). Abolhassani et al. (PMID: 31942606) reported in 2020 another CVID patient molecularly diagnosed with BACH2 haploinsufficiency; however, information on the specific variant was not given. [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2022-09-09 08:44:40]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD60 |
Immunodeficiency 60 | AD |
618394 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of BACH2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000257749.9 | CCDS5026 | Select | protein_coding | 9 | Yes | 9215 | NM_021813 | |
| 203 | ENST00000406998.7 | protein_coding | 7 | No | 780 | NM_001170794 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| E788K |
EX9 | 3171 | c.2362G>A | p.Glu788Lys | missense_variant | Pathogenic | 0 |
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in BACH2
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 448 |
2017 | BACH2 immunodeficiency illustrates an association between su... | Nat. Immun. | 28530713 |
1 |