Tumor Necrosis Factor Receptor Superfamily, Member 11B

Alternative Names

  • TNFRSF11B
  • Osteoprotegerin
  • OPG
  • Osteoclastogenesis Inhibitory Factor
  • OCIF
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OMIM Number

602643

NCBI Gene ID

4982

Uniprot ID

O00300

Length

28,329 bases

No. of Exons

5

No. of isoforms

1

Protein Name

Tumor necrosis factor receptor superfamily member 11B

Molecular Mass

46026 Da

Amino Acid Count

401

Genomic Location

chr8:118,923,556-118,951,884

Gene Map Locus
8q24.12

Description

The TNFRSF11B gene gives instructions for making a protein called osteoprotegerin that is member of the TNF-receptor superfamily.  It is expressed in lymphoid cells and up-regulated by CD40 (TNFRSF5) stimulation.  It is highly expressed in adult lung, heart, kidney, liver, spleen, thymus, prostate, ovary, small intestine, thyroid, lymph node, trachea, adrenal gland, testis, and bone marrow.  The protein Osteoprotegerin has an important role in bone remodeling, and is involved in osteoclastogenesis, and the secreted form down-regulates osteoclast differentiation by binding the osteoprotegerin ligand (TNFSF11).  Defects in this protein are the cause of juvenile Paget disease and Paget disease of bone.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002546.3:c.31-2266_31-2262delUnited Arab EmiratesNC_000008.11:g.118935562_118935566delNG_012202.1:g.21579_21583del; NM_002546.3:c.31-2266_31-2262del; NP_002537.3:p.?3081400
NM_002546.4:c.887dupEgyptNC_000008.11:g.118924693dupLikely PathogenicLikely PathogenicPaget Disease of Bone 5, Juvenile-OnsetNG_012202.1:g.32452dup; NM_002546.4:c.887dup; NP_002537.3:p.Ser297Ter1554617110191343

Other Reports

Saudi Arabia

Sadat-Ali and Al-Turki analyzed three SNP variants in three genes: ALOX15 (rs7220870), LRP5 (C 25752205 10), and TNFRSF11B (C 11869235 10) that influence Bone Mineral Density (BMD) among postmenopausal Saudi women between January 2009 and June 2010.  The majority of the women 69% were homozygous CC for the ALOX15 C>A SNP with low BMD in the hip region and lower history fracture than the other alleles, while 4% were homozygous for A allele with higher BMD.  Over 96% of the women carried CC and CT for the LRP5 C>T SNP.  The women with the homozygous TT showed high BMD at the hip and spine and there were no fragility fracture.  In the TNFRSF11B SNP; the majority of the women carried AA and AG alleles, and only 3% were homozygous for G allele.  BMD of the hip and spine was significantly higher in the GG allele, and higher prevalence of fractures.  While in the A allele women, there was risk of low BMD and higher risk of osteoporosis without fractures.  This study revealed that reported SNPs in the ALOX 15, LPR5, and TNFRSF11B, have an influence in BMD, osteoporosis, and fragility fractures among Saudi females.

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