Information on CTNNBL1
Basic details
Alt. symbols: C20orf33 | FLJ21108 | P14L | P14 | NAP | NYD-SP19
Approved name: catenin beta like 1
Alt. names: chromosome 20 open reading frame 33, catenin, beta like 1 | nuclear associated protein
Location: 20q11.23: 37694030 - 37872129 (+)
Gene type: protein_coding, 8 transcripts.
Scores: LoFtool: 0.589000 | pLI: 0.28580048 | LOEUF: 0.510
Normal function
CTNNBL1 encodes an integral spliceosome component required for activating pre-mRNA splicing. It has been shown to participate in AID/AICDA-dependent class switch recombination (CSR) and somatic hypermutation (SHM), while its C-terminal leucine-isoleucine zipper motif may be required for induction of apoptosis (PMID: 12659813).
Dysfunction and disease
Kuhny et al. (2020) identified a rare homozygous M466V mutation in a patient with CVID complicated by autoimmune cytopenias (PMID: 32484799). Romberg et al. (2019) had previously found very low frequencies of SHM in the rare circulating IgG+ B cells isolated from CVID patients with autoimmune cytopenias vs those without, with corresponding evidence of hyperplastic but inefficient GC reactions (PMID: 29935219). The authors showed that the M466V mutation interfered with CTNNBL1-AID binding, result ing in decreased nuclear translocation of AID and reduced SHM frequency. [Load More]
[Reviewed by Xiao P. Peng on 2022-07-10 05:36:37]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD99 |
Immunodeficiency 99 | AR |
Loss of Function | 619846 |
1 (1 fams) |
Transcripts of CTNNBL1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000361383.11 | CCDS13298 | Select | protein_coding | 16 | Yes | 1890 | NM_030877 | |
| 210 | ENST00000628103.2 | CCDS63269 | protein_coding | 17 | No | 1958 | NM_001281495 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| M466V |
EX14 | 1489 | c.1396A>G | p.Met466Val | missense_variant | Pathogenic | 1 |
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 CTNNBL1
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 297 |
2020 | Disease-associated CTNNBL1 mutation impairs somatic hypermut... | J. Clin. Investig. | 32484799 |
1 |