Information on BLK
Basic details
Alt. symbols: MGC10442
Approved name: BLK proto-oncogene, Src family tyrosine kinase
Alt. names: B lymphoid tyrosine kinase
Location: 8p23.1: 11486894 - 11564599 (+)
Gene type: protein_coding, 8 transcripts.
Scores: LoFtool: 0.403000 | pLI: 0.00000029 | LOEUF: 1.168
Normal function
This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors (RefSeq, 2010).
Dysfunction and disease
Monoallelic variants in BLK have been associated with Maturity-onset diabetes of the young (MODY), type 11 [MIM:613375] - a monogenic form of diabetes complicated with signs of autoimmunity, but also with hypertriglyceridemia and with common variable immunodeficiency. To date, only one missense mutation (p.Leu3Pro) has been linked to CVID in one and his father (PMID: 25926555). Additionally, some rare variants impairing the kinase activity of BLK have been found in SLE patients, leading to enha nced interferon-β production (PMID: 31101814). [Load More]
[Reviewed by Xiao P. Peng on 2023-10-22 21:24:07]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
MODY11 |
Maturity-onset diabetes of the young, type 11 | AD |
613375 |
0 (0 fams) | |
| CVID20 |
Immunodeficiency, common variable, 20 | AD |
Haploinsufficiency | - | 2 (1 fams) |
| SLES22 |
susceptibility to Systemic lupus erythematosus 22 | AD |
- | 0 (0 fams) |
Transcripts of BLK
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000259089.9 | CCDS5982 | Select | protein_coding | 13 | Yes | 2215 | NM_001330465,NM_001715 |
Published variants
Found 2 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| L3P |
EX2 | 214 | c.8T>C | p.Leu3Pro | missense_variant | Likely Pathogenic | 2 |
| R359C |
EX11 | 1281 | c.1075C>T | p.Arg359Cys | missense_variant | Risk allele | 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 BLK
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 26 |
2015 | Dysfunctional BLK in common variable immunodeficiency pertur... | Oncotarget | 25926555 |
1 |
| 542 |
2019 | Functional rare and low frequency variants in BLK and BANK1 ... | Nat. Commun. | 31101814 |
1 |
| 543 |
2016 | The SLE variant Ala71Thr of BLK severely decreases protein a... | Genes & Immun. | 26821283 |
1 |
| 550 |
2012 | Fine mapping and conditional analysis identify a new mutatio... | Ann. Rheum. Dis. | 22696686 |
1 |
| 572 |
2013 | Reassessment of the putative role of BLK-p.A71T loss-of-func... | Diabetologia | 23224494 |
1 |