Information on CD79B
Basic details
Alt. symbols: IGB | B29
Approved name: CD79b molecule
Alt. names: CD79B antigen (immunoglobulin-associated beta), CD79b molecule, immunoglobulin-associated beta | B-cell antigen receptor complex-associated protein beta chain
Location: 17q23.3: 63928738 - 63932336 (-)
Gene type: protein_coding, 7 transcripts.
Scores: LoFtool: | pLI: 0.95000266 | LOEUF: 0.384
Normal function
Dysfunction and disease
Agammaglobulinemia 6 [MIM:612692] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
AGM6 |
Agammaglobulinemia 6 | AR |
612692 |
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 CD79B
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000006750.8 | CCDS11655 | Select | protein_coding | 6 | Yes | 1246 | NM_000626 | |
| 203 | ENST00000392795.7 | 1 | CCDS42372 | protein_coding | 6 | No | 1254 | NM_001039933 | |
| 202 | ENST00000349817.2 | CCDS11656 | protein_coding | 5 | No | 378 | NM_001329050,NM_021602 |
Published variants
Found 2 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| G138S |
EX3 | 487 | c.412G>A | p.Gly138Ser | missense_variant | Pathogenic | 0 |
| Q81* |
EX3 | 316 | c.241C>T | p.Gln81Ter | stop_gained | 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 CD79B
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 79 |
2007 | Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a ... | jimmunol | 17675462 |
1 |
| 81 |
2009 | Primary B cell immunodeficiencies: comparisons and contrasts... | Annu. Rev. Immunol | 19302039 |
1 |