• Gene id: 23495

Gene Summary

• Gene Symbol: TNFRSF13B   Gene   UCSC   Ensembl
• Aliases: CD267, CVID, CVID2, IGAD2, RYZN, TACI, TNFRSF14B
• Gene name: TNF receptor superfamily member 13B
• Alternate names: tumor necrosis factor receptor superfamily member 13B, transmembrane activator and CAML interactor, tumor necrosis factor receptor 13B,
• Gene location: 17p11.2 (16972117: 16939080)     Exons: 5     NC_000017.11
• Gene summary(Entrez): 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,
• OMIM: 604251

Protein Summary

• Protein general information: O14836  
  • Name: Tumor necrosis factor receptor superfamily member 13B (Transmembrane activator and CAML interactor) (CD antigen CD267)
  • Length: 293  
  • Mass: 31816
  • Tissue specificity: Highly expressed in spleen, thymus, small intestine and peripheral blood leukocytes. Expressed in resting B-cells and activated T-cells, but not in resting T-cells.
• Sequence:

  MSGLGRSRRGGRSRVDQEERFPQGLWTGVAMRSCPEEQYWDPLLGTCMSCKTICNHQSQRTCAAFCRSLSCRKEQ
  GKFYDHLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRRQRSGEVENNSDNSGRYQGLEHRGSEASPAL
  PGLKLSADQVALVYSTLGLCLCAVLCCFLVAVACFLKKRGDPCSCQPRSRPRQSPAKSSQDHAMEAGSPVSTSPE
  PVETCSFCFPECRAPTQESAVTPGTPDPTCAGRWGCHTRTTVLQPCPHIPDSGLGIVCVPAQEGGPGA

• Structural information:
  • Interpro: IPR015384  IPR022317  
  • Prosite: PS00652
  • CDD: cd13415
  • PDB: 1XU1 1XUT
  • PDBsum: 1XU1 1XUT
  • DIP: 6224
  • STRING: ENSP00000261652
• Other Databases: GeneCards:  TNFRSF13B  Malacards:  TNFRSF13B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030889	negative regulation of B cell proliferation	IBA	biological process
GO:0001782	B cell homeostasis	IBA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IBA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa05340	Primary immunodeficiency
hsa04672	Intestinal immune network for IgA production

Diseases

Associated diseases	References
Common variable immunodeficiency	KEGG:H00088
Common variable immunodeficiency	KEGG:H00088
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq