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
0.16(Read more about gnomAD pLI score)
LOEUF
0.55(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
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:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)