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The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
TNFRSF13B (TNF Receptor Superfamily Member 13B) is a Protein Coding gene. Diseases associated with TNFRSF13B include Immunodeficiency, Common Variable, 2 and Immunoglobulin A Deficiency 2. Among its related pathways are RANK Signaling in Osteoclasts and Innate Immune System.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 10801128 |
GO:0038023 | signaling receptor activity | TAS | 9311921 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS,IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
2 | RANK Signaling in Osteoclasts |
APRIL Pathway
.92
BAFF in B-Cell Signaling
.92
|
Apoptosis and survival APRIL and BAFF signaling
.39
|
3 | PEDF Induced Signaling |
STAT3 Pathway
.47
|
|
4 | TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions | ||
5 | TRAF Pathway |
TNF Superfamily Pathway
.42
|
TRAF Pathway
.42
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001782 | B cell homeostasis | IBA | 21873635 |
GO:0002244 | hematopoietic progenitor cell differentiation | IBA | 21873635 |
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0007166 | cell surface receptor signaling pathway | TAS | 9311921 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TNFRSF13B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TNFRSF13B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tnfrsf13b 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TNFRSF13B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TNFRSF13B 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TNFRSF13B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TNFRSF13B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TNFRSF13B 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
834559 | Uncertain Significance: Common variable immunodeficiency 2 | 16,948,765(-) |
C/T NM_012452.3(TNFRSF13B):c.418G>A (p.Glu140Lys) |
MISSENSE | |
835226 | Uncertain Significance: Common variable immunodeficiency 2 | 16,948,818(-) |
C/T NM_012452.3(TNFRSF13B):c.365G>A (p.Arg122Gln) |
MISSENSE | |
840913 | Uncertain Significance: Common variable immunodeficiency 2 | 16,948,969(-) |
G/A NM_012452.3(TNFRSF13B):c.214C>T (p.Arg72Cys) |
MISSENSE | |
840923 | Pathogenic: Common variable immunodeficiency 2; Immunoglobulin A deficiency 2 | 16,952,447(-) |
G/T NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) |
NONSENSE | |
849649 | Uncertain Significance: Common variable immunodeficiency 2 | 16,952,474(-) |
C/G NM_012452.3(TNFRSF13B):c.171G>C (p.Gln57His) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2662060 | CNV | deletion | 23128226 |
esv2666300 | CNV | deletion | 23128226 |
esv275147 | CNV | gain+loss | 21479260 |
esv2761948 | CNV | loss | 21179565 |
esv3640119 | CNV | loss | 21293372 |
esv3640120 | CNV | loss | 21293372 |
nsv1055688 | CNV | gain | 25217958 |
nsv155 | OTHER | inversion | 15895083 |
nsv499114 | OTHER | inversion | 21111241 |
nsv524738 | CNV | loss | 19592680 |
nsv833379 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency, common variable, 2 |
|
|
immunoglobulin a deficiency 2 |
|
|
common variable immunodeficiency |
|
|
immunoglobulin alpha deficiency |
|
|
immunodeficiency, common variable, 1 |
|
|