• Gene id: 64922

Gene Summary

• Gene Symbol: LRRC19   Gene   UCSC   Ensembl
• Gene name: leucine rich repeat containing 19
• Alternate names: leucine-rich repeat-containing protein 19,
• Gene location: 9p21.2 (27005671: 26993135)     Exons: 5     NC_000009.12

Protein Summary

• Protein general information: Q9H756  
  • Name: Leucine rich repeat containing protein 19
  • Length: 370  
  • Mass: 42334
  • Tissue specificity: Expressed in renal collecting duct epithelial cells. {ECO
• Sequence:

  MKVTGITILFWPLSMILLSDKIQSSKREVQCNFTEKNYTLIPADIKKDVTILDLSYNQITLNGTDTRVLQTYFLL
  TELYLIENKVTILHNNGFGNLSSLEILNICRNSIYVIQQGAFLGLNKLKQLYLCQNKIEQLNADVFVPLRSLKLL
  NLQGNLISYLDVPPLFHLELITLYGNLWNCSCSLFNLQNWLNTSNVTLENENITMCSYPNSLQSYNIKTVPHKAE
  CHSKFPSSVTEDLYIHFQPISNSIFNSSSNNLTRNSEHEPLGKSWAFLVGVVVTVLTTSLLIFIAIKCPIWYNIL
  LSYNHHRLEEHEAETYEDGFTGNPSSLSQIPETNSEETTVIFEQLHSFVVDDDGFIEDKYIDIHELCEEN

• Structural information:
  • Protein Domains: (176..22-)
    (/note="LRRCT-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR000483  IPR001611  IPR003591  IPR032675  IPR039489  
  • STRING: ENSP00000369395
• Other Databases: GeneCards:  LRRC19  Malacards:  LRRC19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0032637	interleukin-8 production	IBA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IBA	biological process
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0050727	regulation of inflammatory response	ISS	biological process
GO:0048874	host-mediated regulation of intestinal microbiota composition	ISS	biological process
GO:0038008	TRAF-mediated signal transduction	ISS	biological process
GO:0001817	regulation of cytokine production	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IDA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0048874	host-mediated regulation of intestinal microbiota composition	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0038008	TRAF-mediated signal transduction	IEA	biological process
GO:0001817	regulation of cytokine production	IEA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0032637	interleukin-8 production	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0002224	toll-like receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R