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

Length

65,979 bases

No. of Exons

No. of isoforms

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

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_003839.4:c.1234G>T	Lebanon	NC_000018.10:g.62369151G>T		Uncertain Significance	Familial Mediterranean Fever	NG_008098.1:g.48837G>T; NM_003839.4:c.1234G>T; NP_003830.1:p.Asp412Tyr	1910324471
NM_003839.4:c.1348C>T	Lebanon	NC_000018.10:g.62369265C>T	Benign, Likely Benign	Uncertain Significance		NG_008098.1:g.48951C>T; NM_003839.4:c.1348C>T; NP_003830.1:p.Arg450Trp	34945627	781416
NM_003839.4:c.400G>A	United Arab Emirates	NC_000018.10:g.62354507G>A		Likely Pathogenic	Osteopetrosis, Autosomal Recessive 7	NG_008098.1:g.34193G>A; NM_003839.4:c.400G>A; NP_003830.1:p.Ala134Thr

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External Links

https://medlineplus.gov/genetics/gene/tnfrsf11a/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=tnfrsf11a

Contributors

Pratibha Nair: 27.06.2022
Sayeeda Hana: 03.02.2021

Edit History

Pratibha Nair: 27.06.2022
Sayeeda Hana: 03.02.2021

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