Information on B2M
Alt. symbols: IMD43
Approved name: beta-2-microglobulin
Alt. names: beta2microglobulin | beta chain of MHC class I molecules | beta2microglobin
Location: 15q21.1: 44711358 - 44718851 (+)
Gene type: protein_coding, 12 transcripts.
Scores: LoFtool: | pLI: 0.85656195 | LOEUF: 0.709
Gene Ontology (GO)
- Molecular function: MHC class II protein complex binding [GO:0023026]
- Cell component: MHC class II protein complex [GO:0042613]
- Biological process: antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; peptide antigen assembly with MHC class II protein complex [GO:0002503]; positive regulation of T cell activation [GO:0050870]; immunoglobulin production involved in immunoglobulin-mediated immune response [GO:0002381]
Normal function
Dysfunction and disease
Immunodeficiency 43 [MIM:241600] | ?Amyloidosis, familial visceral [MIM:105200] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD43 |
Immunodeficiency 43 | AR |
241600 |
0 (0 fams) | |
| AMYLD6 |
Amyloidosis, hereditary systemic 6 | AD |
620659 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of B2M
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 207 | ENST00000559916.1 | CCDS10113 | protein_coding | No | 1081 | XM_005254549 | |||
| 214 | ENST00000648006.3 | 1 | CCDS10113 | Select | protein_coding | 4 | Yes | 943 | NM_004048 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) 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 B2M
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|