• Gene id: 115650

Gene Summary

• Gene Symbol: TNFRSF13C   Gene   UCSC   Ensembl
• Aliases: BAFF-R, BAFFR, BROMIX, CD268, CVID4, prolixin
• Gene name: TNF receptor superfamily member 13C
• Alternate names: tumor necrosis factor receptor superfamily member 13C, B cell-activating factor receptor, BAFF receptor, BLyS receptor 3,
• Gene location: 22q13.2 (41926805: 41922031)     Exons: 3     NC_000022.11
• Gene summary(Entrez): B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SL
• OMIM: 194527

Protein Summary

• Protein general information: Q96RJ3  
  • Name: Tumor necrosis factor receptor superfamily member 13C (B cell activating factor receptor) (BAFF receptor) (BAFF R) (BLyS receptor 3) (CD antigen CD268)
  • Length: 184  
  • Mass: 18864
  • Tissue specificity: Highly expressed in spleen and lymph node, and in resting B-cells. Detected at lower levels in activated B-cells, resting CD4+ T-cells, in thymus and peripheral blood leukocytes.
• Sequence:

  MRRGPRSLRGRDAPAPTPCVPAECFDLLVRHCVACGLLRTPRPKPAGASSPAPRTALQPQESVGAGAGEAALPLP
  GLLFGAPALLGLALVLALVLVGLVSWRRRQRRLRGASSAEAPDGDKDAPEPLDKVIILSPGISDATAPAWPPPGE
  DPGTTPPGHSVPVPATELGSTELVTTKTAGPEQQ

• Structural information:
  • Interpro: IPR022338  IPR015336  
  • PDB: 1MPV 1OQE 1OSX 2HFG 3V56 4V46
  • PDBsum: 1MPV 1OQE 1OSX 2HFG 3V56 4V46
  • STRING: ENSP00000291232
• Other Databases: GeneCards:  TNFRSF13C  Malacards:  TNFRSF13C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031295	T cell costimulation	IBA	biological process
GO:0042102	positive regulation of T cell proliferation	IBA	biological process
GO:0031296	B cell costimulation	IBA	biological process
GO:0030890	positive regulation of B cell proliferation	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0033209	tumor necrosis factor-mediated signaling pathway	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0002636	positive regulation of germinal center formation	IEA	biological process
GO:0031295	T cell costimulation	IEA	biological process
GO:0045078	positive regulation of interferon-gamma biosynthetic process	IEA	biological process
GO:0050776	regulation of immune response	IEA	biological process
GO:0001782	B cell homeostasis	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0030890	positive regulation of B cell proliferation	IEA	biological process
GO:0031296	B cell costimulation	IEA	biological process
GO:0042102	positive regulation of T cell proliferation	IEA	biological process
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa05166	Human T-cell leukemia virus 1 infection
hsa04064	NF-kappa B signaling pathway
hsa05340	Primary immunodeficiency
hsa04672	Intestinal immune network for IgA production

Diseases

Associated diseases	References
Common variable immunodeficiency	KEGG:H00088
Common variable immunodeficiency	KEGG:H00088
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881