Tumor Necrosis Factor Receptor Superfamily, Member 11A

Alternative Names

  • TNFRSF11A
  • Receptor Activator Of NF-Kappa-B
  • RANK
  • Osteoclast Differentiation Factor Receptor
  • ODFR
  • PDB2 Gene
  • Trancer
  • Loss Of Heterozygosity, Chromosome 18, Region 1
  • LOH18CR1
  • Osteosarcoma Tumor Suppressor
  • OSTS
Back to search Result
OMIM Number

603499

NCBI Gene ID

8792

Uniprot ID

Q9Y6Q6

Length

65,979 bases

No. of Exons

12

No. of isoforms

6

Protein Name

Tumor necrosis factor receptor superfamily member 11A

Molecular Mass

66034 Da

Amino Acid Count

616

Genomic Location

chr18:62,325,309-62,391,287

Gene Map Locus
18q21.33

Description

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003839.4:c.1234G>TLebanonNC_000018.10:g.62369151G>TUncertain SignificanceFamilial Mediterranean FeverNG_008098.1:g.48837G>T; NM_003839.4:c.1234G>T; NP_003830.1:p.Asp412Tyr1910324471
NM_003839.4:c.1348C>TLebanonNC_000018.10:g.62369265C>TBenign, Likely BenignUncertain SignificanceNG_008098.1:g.48951C>T; NM_003839.4:c.1348C>T; NP_003830.1:p.Arg450Trp34945627781416
NM_003839.4:c.400G>AUnited Arab EmiratesNC_000018.10:g.62354507G>ALikely PathogenicOsteopetrosis, Autosomal Recessive 7NG_008098.1:g.34193G>A; NM_003839.4:c.400G>A; NP_003830.1:p.Ala134Thr
© CAGS 2022. All rights reserved.