Information on TNFSF11
Basic details
Alt. symbols: TRANCE | RANKL | OPGL | ODF | CD254
Approved name: TNF superfamily member 11
Alt. names: tumor necrosis factor (ligand) superfamily, member 11
Location: 13q14.11: 42562736 - 42608013 (+)
Gene type: protein_coding, 2 transcripts.
Scores: LoFtool: 0.071700 | pLI: 0.13019155 | LOEUF: 0.853
Normal function
Dysfunction and disease
Osteopetrosis, autosomal recessive 2 [MIM:259710] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
OPTB2 |
Osteopetrosis, autosomal recessive 2 | AR |
259710 |
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 TNFSF11
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000358545.6 | CCDS9385 | protein_coding | 7 | No | 1520 | NM_033012 | ||
| 203 | ENST00000398795.7 | CCDS9384 | Select | protein_coding | 5 | Yes | 2201 | NM_003701 |
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 TNFSF11
| ID | Year | Title | Journal | PMID | Variants |
|---|