• Gene id: 608

Gene Summary

• Gene Symbol: TNFRSF17   Gene   UCSC   Ensembl
• Aliases: BCM, BCMA, CD269, TNFRSF13A
• Gene name: TNF receptor superfamily member 17
• Alternate names: tumor necrosis factor receptor superfamily member 17, B cell maturation antigen, B-cell maturation factor, B-cell maturation protein,
• Gene location: 16p13.13 (7115537: 7101321)     Exons: 11     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifica
• OMIM: 109545

Protein Summary

• Protein general information: Q02223  
  • Name: Tumor necrosis factor receptor superfamily member 17 (B cell maturation protein) (CD antigen CD269)
  • Length: 184  
  • Mass: 20165
  • Tissue specificity: Expressed in mature B-cells, but not in T-cells or monocytes.
• Sequence:

  MLQMAGQCSQNEYFDSLLHACIPCQLRCSSNTPPLTCQRYCNASVTNSVKGTNAILWTCLGLSLIISLAVFVLMF
  LLRKINSEPLKDEFKNTGSGLLGMANIDLEKSRTGDEIILPRGLEYTVEECTCEDCIKSKPKVDSDHCFPLPAME
  EGATILVTTKTNDYCKSLPAALSATEIEKSISAR

• Structural information:
  • Interpro: IPR015337  IPR022320  
  • CDD: cd13414
  • PDB: 1OQD 1XU2 2KN1 4ZFO 6J7W
  • PDBsum: 1OQD 1XU2 2KN1 4ZFO 6J7W
  • STRING: ENSP00000053243
• Other Databases: GeneCards:  TNFRSF17  Malacards:  TNFRSF17

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007275	multicellular organism development	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0007165	signal transduction	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:0002260	lymphocyte homeostasis	IEA	biological process
GO:0012505	endomembrane system	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Colon carcinoma	PMID:11104810
multiple myeloma	PMID:15692072
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq