Information on IL12RB2
Alt. symbols:
Approved name: interleukin 12 receptor subunit beta 2
Alt. names: interleukin 12 receptor, beta 2
Location: 1p31.3: 67307364 - 67398724 (+)
Gene type: protein_coding, 18 transcripts.
Scores: LoFtool: 0.739000 | pLI: 0.00000451 | LOEUF: 0.707
Gene Ontology (GO)
- Molecular function: cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]
- Cell component: receptor complex [GO:0043235]; external side of plasma membrane [GO:0009897]
- Biological process: cytokine-mediated signaling pathway [GO:0019221]
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
MSMD2 |
Mendelian Susceptibility to mycobacterial disease 2 | AR |
Loss of Function | - | 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 IL12RB2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 208 | ENST00000674203.2 | 2 | CCDS638 | Select | protein_coding | 17 | Yes | 5443 | NM_001374259,NM_001559 |
| 205 | ENST00000541374.6 | protein_coding | 13 | No | 3348 | XM_047419669 | |||
| 201 | ENST00000262345.5 | 1 | CCDS638 | protein_coding | 16 | No | 4040 | NM_001559 | |
| 202 | ENST00000371000.5 | CCDS58006 | protein_coding | 16 | No | 2454 | NM_001258214,NM_001319233 | ||
| 206 | ENST00000544434.5 | CCDS58007 | protein_coding | 14 | No | 3782 | NM_001258215 | ||
| 210 | ENST00000696755.1 | protein_coding | No | NM_001258216 | |||||
| 212 | ENST00000696757.1 | protein_coding | No | XM_017001203 |
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 IL12RB2
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 |
|---|