TNFRSF11B |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TNFRSF11B (HGNC:11909) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- TNF receptor superfamily member 11b
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- OPG
- Alias symbols
- OCIF, TR1
- %HI
- 13.92(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.88(Read more about gnomAD pLI score)
- LOEUF
- 0.54(Read more about gnomAD LOEUF score)
- Cytoband
- 8q24.12
- Genomic Coordinates
-
GRCh37/hg19: chr8:119935796-119964124 NCBI Ensembl UCSC GRCh38/hg38: chr8:118923557-118951885 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002546.4 ENST00000297350.9 (Read more about MANE Select)
- Function
- Acts as a decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between TNFSF11 and TNFRSF11B. May also play a role in preventing arterial calcification. May act as decoy receptor for TNFSF10/TRAIL and protect against apoptosis. TNFSF10/TRAIL binding blocks the inhibition of osteoclastogenesis. {ECO:0000269|PubMed:22664871, ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-20688
ClinGen Curation ID:
CCID:008021
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- juvenile Paget disease Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000008.10)
(NC_000008.11)