Information on IL12B
Basic details
Alt. symbols: NKSF2 | CLMF | IL-12B | NKSF | CLMF2
Approved name: interleukin 12B
Alt. names: interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) | natural killer cell stimulatory factor-2, cytotoxic lymphocyte maturation factor 2, p40, interleukin 12, p40, natural killer cell stimulatory factor, 40 kD subunit, interleukin-12 beta chain, IL12, subunit p40
Location: 5q33.3: 159314780 - 159330863 (-)
Gene type: protein_coding, 4 transcripts.
Scores: LoFtool: 0.690000 | pLI: 0.00022325 | LOEUF: 0.919
Normal function
Dysfunction and disease
Immunodeficiency 29, mycobacteriosis [MIM:614890] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
MSMD3 |
Mendelian Susceptibility to mycobacterial disease 3 | AR |
614890 |
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 IL12B
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000231228.3 | 1 | CCDS4346 | Select | protein_coding | 8 | Yes | 2364 | NM_002187 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
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 IL12B
| ID | Year | Title | Journal | PMID | Variants |
|---|