TNFSF11 Gene (Protein Coding)

TNF Superfamily Member 11

GC13P042562
GIFtS:
49
This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of... See more...

Aliases for TNFSF11 Gene

Aliases for TNFSF11 Gene

  • TNF Superfamily Member 11 2 3 5
  • Tumor Necrosis Factor (Ligand) Superfamily, Member 11 2 3
  • Tumor Necrosis Factor Ligand Superfamily Member 11 3 4
  • TNF-Related Activation-Induced Cytokine 3 4
  • Osteoclast Differentiation Factor 3 4
  • Osteoprotegerin Ligand 3 4
  • TRANCE 3 4
  • RANKL 3 4
  • OPGL 3 4
  • ODF 3 4
  • Receptor Activator Of Nuclear Factor Kappa B Ligand 3
  • Receptor Activator Of Nuclear Factor Kappa-B Ligand 4
  • Tumor Necrosis Factor Superfamily Member 11 3
  • Tumor Necrosis Factor Ligand 6B 3
  • CD254 Antigen 4
  • HRANKL2 3
  • TNLG6B 3
  • CD254 3
  • OPTB2 3
  • SOdf 3

External Ids for TNFSF11 Gene

Previous GeneCards Identifiers for TNFSF11 Gene

  • GC13P041146
  • GC13P037132
  • GC13P042073
  • GC13P040934
  • GC13P040943
  • GC13P042034
  • GC13P043136
  • GC13P023940

Summaries for TNFSF11 Gene

Entrez Gene Summary for TNFSF11 Gene

  • This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]

GeneCards Summary for TNFSF11 Gene

TNFSF11 (TNF Superfamily Member 11) is a Protein Coding gene. Diseases associated with TNFSF11 include Osteopetrosis, Autosomal Recessive 2 and Autosomal Recessive Malignant Osteopetrosis. Among its related pathways are RANK Signaling in Osteoclasts and Osteoclast Signaling. Gene Ontology (GO) annotations related to this gene include cytokine activity and tumor necrosis factor receptor superfamily binding. An important paralog of this gene is TNFSF10.

UniProtKB/Swiss-Prot Summary for TNFSF11 Gene

  • Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy (PubMed:22664871). Induces osteoclastogenesis by activating multiple signaling pathways in osteoclast precursor cells, chief among which is induction of long lasting oscillations in the intracellular concentration of Ca (2+) resulting in the activation of NFATC1, which translocates to the nucleus and induces osteoclast-specific gene transcription to allow differentiation of osteoclasts. During osteoclast differentiation, in a TMEM64 and ATP2A2-dependent manner induces activation of CREB1 and mitochondrial ROS generation necessary for proper osteoclast generation (By similarity).

Gene Wiki entry for TNFSF11 Gene

Additional gene information for TNFSF11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNFSF11 Gene

Genomics for TNFSF11 Gene

GeneHancer (GH) Regulatory Elements for TNFSF11 Gene

Promoters and enhancers for TNFSF11 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH13J042573 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 750.4 +12.0 11952 1.8 ETV6 POLR2A RELA IKZF1 BACH1 IKZF2 ZNF143 LARP7 EZH2 DPF2 TNFSF11 RF00017-1406
GH13J042561 Enhancer 0.3 Ensembl 750.6 -0.8 -835 1.4 ZKSCAN1 EBF1 TNFSF11 piR-33422-104 piR-58297-129 piR-50129-055
GH13J042405 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 17.6 -156.6 -156571 1.7 ZNF24 SP1 ETV6 RELA MLLT1 CREM ZBED1 IKZF1 POLR2A BACH1 TNFSF11 AKAP11 lnc-VWA8-7 piR-46002-146 LINC02341
GH13J042377 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 15.2 -183.5 -183535 4.4 ZNF24 SP1 HCFC1 JUND ETV6 RELA MAFK MLLT1 POLR2A CREM TNFSF11 AKAP11 DGKH FABP3P2 lnc-VWA8-7 LINC02341
GH13J042354 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -207.6 -207635 3.8 ETV6 RAD21 CREM ZBED1 ZIC2 EED RUNX3 BCLAF1 STAT1 JUNB TNFSF11 AKAP11 DGKH VWA8 FABP3P2 LINC02341
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNFSF11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TNFSF11 gene promoter:
  • FOXO4
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3

Genomic Locations for TNFSF11 Gene

Genomic Locations for TNFSF11 Gene
chr13:42,562,736-42,608,013
(GRCh38/hg38)
Size:
45,278 bases
Orientation:
Plus strand
chr13:43,136,872-43,182,149
(GRCh37/hg19)
Size:
45,278 bases
Orientation:
Plus strand

Genomic View for TNFSF11 Gene

Genes around TNFSF11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNFSF11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNFSF11 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TNFSF11 Gene

Proteins for TNFSF11 Gene

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  • Protein details for TNFSF11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14788-TNF11_HUMAN
    Recommended name:
    Tumor necrosis factor ligand superfamily member 11
    Protein Accession:
    O14788
    Secondary Accessions:
    • O14723
    • Q96Q17
    • Q9P2Q3

    Protein attributes for TNFSF11 Gene

    Size:
    317 amino acids
    Molecular mass:
    35478 Da
    Quaternary structure:
    • Homotrimer (By similarity). Interacts with TNFRSF11B (PubMed:22664871). Interacts with TNFRSF11A. Interacts with FBN1 (via N-terminal domain) in a Ca(+2)-dependent manner (By similarity).

    Three dimensional structures from OCA and Proteopedia for TNFSF11 Gene

    Alternative splice isoforms for TNFSF11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNFSF11 Gene

Post-translational modifications for TNFSF11 Gene

  • The soluble form of isoform 1 derives from the membrane form by proteolytic processing (By similarity). The cleavage may be catalyzed by ADAM17.
  • Glycosylation at Asn171 and Asn198
  • Modification sites at PhosphoSitePlus

Other Protein References for TNFSF11 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Protein Products

Assay Products

  • Abcam assays for TNFSF11

No data available for DME Specific Peptides for TNFSF11 Gene

Domains & Families for TNFSF11 Gene

Gene Families for TNFSF11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for TNFSF11 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TNFSF11 Gene

GenScript: Design optimal peptide antigens:
  • Tumor necrosis factor (Ligand) superfamily, member 11, isoform CRA_c (Q5T9Y4_HUMAN)
  • TNF-related activation-induced cytokine (TNF11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14788

UniProtKB/Swiss-Prot:

TNF11_HUMAN :
  • Belongs to the tumor necrosis factor family.
Family:
  • Belongs to the tumor necrosis factor family.
genes like me logo Genes that share domains with TNFSF11: view

Function for TNFSF11 Gene

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Molecular function for TNFSF11 Gene

UniProtKB/Swiss-Prot Function:
Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy (PubMed:22664871). Induces osteoclastogenesis by activating multiple signaling pathways in osteoclast precursor cells, chief among which is induction of long lasting oscillations in the intracellular concentration of Ca (2+) resulting in the activation of NFATC1, which translocates to the nucleus and induces osteoclast-specific gene transcription to allow differentiation of osteoclasts. During osteoclast differentiation, in a TMEM64 and ATP2A2-dependent manner induces activation of CREB1 and mitochondrial ROS generation necessary for proper osteoclast generation (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated by T-cell receptor stimulation.
GENATLAS Biochemistry:
tumor necrosis factor superfamily,member 11 TNFRSF11A (RANK) and OPG (osteprogerin ligand),localized in T cells bone marrow stromal cells,hypertrophic chondrocyte,stimulated by IL1B and TNFRSF11B,expressed in bone, brain,heart,kidney,skeletal muscle,skin,cooperating with prostaglandin,mediating osteoclastognesis and bone loss through systemic activation of T cells,regulating lymph node organogenesis lymphocyte development and interactions between T cells and dendritic cells,activating the antiapoptotic serine threonine kinase AKT/PKB through a signal complex involving TRAF6 and SRC

Phenotypes From GWAS Catalog for TNFSF11 Gene

Gene Ontology (GO) - Molecular Function for TNFSF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IDA,NAS 9568710
GO:0005164 tumor necrosis factor receptor binding NAS 9312132
GO:0005515 protein binding IPI 18586671
GO:0032813 tumor necrosis factor receptor superfamily binding IC 19940926
genes like me logo Genes that share ontologies with TNFSF11: view
genes like me logo Genes that share phenotypes with TNFSF11: view

Human Phenotype Ontology for TNFSF11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNFSF11 Gene

MGI Knock Outs for TNFSF11:

Animal Model Products

CRISPR Products

miRNA for TNFSF11 Gene

miRTarBase miRNAs that target TNFSF11

Inhibitory RNA Products

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Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TNFSF11 Gene

Localization for TNFSF11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNFSF11 Gene

Isoform 1: Cell membrane; Single-pass type II membrane protein.
Isoform 3: Cell membrane; Single-pass type II membrane protein.
Isoform 2: Cytoplasm.
Tumor necrosis factor ligand superfamily member 11, soluble form: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNFSF11 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TNFSF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 9312132
genes like me logo Genes that share ontologies with TNFSF11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TNFSF11 Gene

Pathways & Interactions for TNFSF11 Gene

PathCards logo

SuperPathways for TNFSF11 Gene

SuperPathway Contained pathways
1 PEDF Induced Signaling
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
IL-6 Pathway
.61
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
Cytokine-cytokine receptor interaction
.43
2 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
Molecular Mechanisms of Cancer
.51
3 RANK Signaling in Osteoclasts
RANK Signaling in Osteoclasts
.45
RANK Pathway
.38
RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway
.31
4 Akt Signaling
Akt Signaling
.60
p38 Signaling
.60
5 PAK Pathway
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
genes like me logo Genes that share pathways with TNFSF11: view

SIGNOR curated interactions for TNFSF11 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TNFSF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0002158 osteoclast proliferation IEA --
GO:0002548 monocyte chemotaxis IDA 15248232
GO:0006955 immune response NAS 9312132
GO:0007257 activation of JUN kinase activity IEA --
genes like me logo Genes that share ontologies with TNFSF11: view

Drugs & Compounds for TNFSF11 Gene

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(65) Drugs for TNFSF11 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lenalidomide Approved Pharma Target, inhibitor, Anti-angiogenic. Anti-angiogenic. 848
Denosumab Approved Pharma Target, antibody, antagonist RANKL antagonist, Osteoclast function modifiers (important in bone metastasis) 190
Anastrozole Approved, Investigational Pharma Aromatase inhibitor, Potent aromatase (CYP19) inhibitor, Aromatase Inhibitors, Hormone therapy 320
Letrozole Approved, Investigational Pharma Non-steroidal aromatase inhibitor, Aromatase Inhibitors 482
Thiocolchicoside Experimental Pharma Target, antagonist 0

(41) Additional Compounds for TNFSF11 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNFSF11: view

Drug Products

Transcripts for TNFSF11 Gene

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mRNA/cDNA for TNFSF11 Gene

(2) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNFSF11

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Alternative Splicing Database (ASD) splice patterns (SP) for TNFSF11 Gene

No ASD Table

Relevant External Links for TNFSF11 Gene

GeneLoc Exon Structure for
TNFSF11
ECgene alternative splicing isoforms for
TNFSF11

Expression for TNFSF11 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TNFSF11 Gene

mRNA expression in normal human tissues for TNFSF11 Gene
mRNA expression by GTEx for TNFSF11 GenemRNA expression by BioGPS for TNFSF11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNFSF11 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x4.8).

NURSA nuclear receptor signaling pathways regulating expression of TNFSF11 Gene:

TNFSF11

SOURCE GeneReport for Unigene cluster for TNFSF11 Gene:

Hs.333791

mRNA Expression by UniProt/SwissProt for TNFSF11 Gene:

O14788-TNF11_HUMAN
Tissue specificity: Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid.

Evidence on tissue expression from TISSUES for TNFSF11 Gene

  • Bone marrow(4.7)
  • Blood(4.6)
  • Lymph node(4.5)
  • Lung(4.2)
  • Bone(4)
  • Spleen(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNFSF11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • pharynx
  • sinus
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TNFSF11: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for TNFSF11 Gene

Orthologs for TNFSF11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNFSF11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia TNFSF11 33 32
  • 99.26 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia TNFSF11 33 32
  • 89.21 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia TNFSF11 33 32
  • 87.55 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tnfsf11 17 33 32
  • 83.07 (n)
rat
(Rattus norvegicus)
 Mammalia Tnfsf11 32
  • 82.33 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia TNFSF11 33
  • 78 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia TNFSF11 33
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TNFSF11 33 32
  • 68.41 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia TNFSF11 33
  • 62 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia tnfsf11 32
  • 54.26 (n)
zebrafish
(Danio rerio)
 Actinopterygii tnfsf11 33
  • 23 (a)
 OneToOne
Species where no ortholog for TNFSF11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TNFSF11 Gene

ENSEMBL:
Gene Tree for TNFSF11 (if available)
TreeFam:
Gene Tree for TNFSF11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNFSF11: view image

Paralogs for TNFSF11 Gene

Paralogs for TNFSF11 Gene

(1) SIMAP similar genes for TNFSF11 Gene using alignment to 2 proteins:

  • TNF11_HUMAN
  • Q5T9Y4_HUMAN

Pseudogenes.org Pseudogenes for TNFSF11 Gene

genes like me logo Genes that share paralogs with TNFSF11: view

Variants for TNFSF11 Gene

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Sequence variations from dbSNP and Humsavar for TNFSF11 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1054016 benign, Osteopetrosis 42,607,866(+) G/T 3_prime_UTR_variant
rs121909072 pathogenic, Osteopetrosis autosomal recessive 2, Osteopetrosis, autosomal recessive 2 (OPTB2) [MIM:259710] 42,606,560(+) T/A coding_sequence_variant, missense_variant
rs12721444 uncertain-significance, Osteopetrosis 42,607,663(+) T/C/G 3_prime_UTR_variant
rs138818878 likely-benign, Osteopetrosis 42,574,410(+) C/G coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant
rs138974661 uncertain-significance, Osteopetrosis 42,581,145(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TNFSF11 Gene

Variant ID Type Subtype PubMed ID
esv2747320 CNV deletion 23290073
esv33319 CNV loss 17666407
nsv832593 CNV gain 17160897

Variation tolerance for TNFSF11 Gene

Residual Variation Intolerance Score: 57.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNFSF11 Gene

Human Gene Mutation Database (HGMD)
TNFSF11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNFSF11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNFSF11 Gene

Disorders for TNFSF11 Gene

MalaCards: The human disease database

(75) MalaCards diseases for TNFSF11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteopetrosis, autosomal recessive 2
  • optb2
autosomal recessive malignant osteopetrosis
  • infantile malignant osteopetrosis
periapical granuloma
  • apical granuloma
osteopetrosis
  • albers-schonberg osteopetrosis
bone disease
  • skeletal disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TNF11_HUMAN
  • Osteopetrosis, autosomal recessive 2 (OPTB2) [MIM:259710]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. {ECO:0000269 PubMed:17632511}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TNFSF11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TNFSF11: view

No data available for Genatlas for TNFSF11 Gene

Publications for TNFSF11 Gene

  1. The combinations of polymorphisms in vitamin D receptor, osteoprotegerin and tumour necrosis factor superfamily member 11 genes are associated with bone mineral density. (PMID: 19131500) Mencej-Bedrac S … Marc J (Journal of molecular endocrinology 2009) 3 23 43 56
  2. Multiple genetic loci for bone mineral density and fractures. (PMID: 18445777) Styrkarsdottir U … Stefansson K (The New England journal of medicine 2008) 3 23 43 56
  3. Association of TNFSF11 gene promoter polymorphisms with bone mineral density in postmenopausal women. (PMID: 16730419) Mencej S … Marc J (Maturitas 2006) 3 23 43 56
  4. TRANCE is a novel ligand of the tumor necrosis factor receptor family that activates c-Jun N-terminal kinase in T cells. (PMID: 9312132) Wong BR … Choi Y (The Journal of biological chemistry 1997) 2 3 4 56
  5. A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function. (PMID: 9367155) Anderson DM … Galibert L (Nature 1997) 2 3 4 56

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