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The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]
TNFSF12 (TNF Superfamily Member 12) is a Protein Coding gene. Diseases associated with TNFSF12 include Common Variable Immunodeficiency and Amnestic Disorder. Among its related pathways are Apoptosis Modulation and Signaling and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and tumor necrosis factor receptor binding. An important paralog of this gene is TNFSF12-TNFSF13.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | TAS,IBA | 21873635 |
GO:0005125 | cytokine activity | IEA | -- |
GO:0005164 | tumor necrosis factor receptor binding | IEA | -- |
GO:0005515 | protein binding | IPI | 14961121 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA,IBA | 21873635 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 9560343 |
GO:0016020 | membrane | IEA | -- |
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
|
2 | TNFR1 Pathway |
DR3 Signaling
.87
TWEAK Pathway
.87
Apoptosis through Death Receptors
.42
|
.34
|
3 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
4 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
|
Molecular Mechanisms of Cancer
.51
|
5 | Apoptosis Modulation and Signaling |
Apoptosis and survival Apoptotic TNF-family pathways
.35
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IEA | -- |
GO:0001938 | positive regulation of endothelial cell proliferation | TAS | 14961121 |
GO:0006915 | apoptotic process | TAS | 9560343 |
GO:0006955 | immune response | IEA | -- |
GO:0007165 | signal transduction | TAS | 9560343 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TNFSF12 30 31 |
|
ManyToMany | |
Cow (Bos Taurus) |
Mammalia | TNFSF12 30 |
|
||
TNFSF13B 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | TNFSF12 30 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Tnfsf12 30 17 31 |
|
ManyToMany | |
BC096441 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Tnfsf12 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TNFSF13 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | tnfsf12 30 |
|
||
tnfsf13 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638913 | Uncertain Significance: Common variable immunodeficiency | 7,557,316(+) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
640807 | Uncertain Significance: Common variable immunodeficiency | 7,556,847(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
649356 | Uncertain Significance: Common variable immunodeficiency | 7,557,273(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
654786 | Uncertain Significance: Common variable immunodeficiency | 7,550,181(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
657607 | Uncertain Significance: Common variable immunodeficiency | 7,549,217(+) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
common variable immunodeficiency |
|
|
amnestic disorder |
|
|
systemic lupus erythematosus |
|
|
fetal alcohol spectrum disorder |
|
|
fetal alcohol syndrome |
|
|