• Gene id: 440699

Gene Summary

• Gene Symbol: LRRC52   Gene   UCSC   Ensembl
• Gene name: leucine rich repeat containing 52
• Alternate names: leucine-rich repeat-containing protein 52, BK channel auxiliary gamma subunit LRRC52, BK channel auxilliary gamma subunit LRRC52,
• Gene location: 1q24.1 (165543999: 165563956)     Exons: 12     NC_000001.11
• OMIM: 615218

Protein Summary

• Protein general information: Q8N7C0  
  • Name: Leucine rich repeat containing protein 52 (BK channel auxiliary gamma subunit LRRC52)
  • Length: 313  
  • Mass: 35126
  • Tissue specificity: Mainly expressed in testis and skeletal muscle. {ECO
• Sequence:

  MSLASGPGPGWLLFSFGMGLVSGSKCPNNCLCQAQEVICTGKQLTEYPLDIPLNTRRLFLNENRITSLPAMHLGL
  LSDLVYLDCQNNRIREVMDYTFIGVFKLIYLDLSSNNLTSISPFTFSVLSNLVQLNIANNPHLLSLHKFTFANTT
  SLRYLDLRNTGLQTLDSAALYHLTTLETLFLSGNPWKCNCSFLDFAIFLIVFHMDPSDDLNATCVEPTELTGWPI
  TRVGNPLRYMCITHLDHKDYIFLLLIGFCIFAAGTVAAWLTGVCAVLYQNTRHKSSEEDEDEAGTRVEVSRRIFQ
  TQTSSVQEFPQLI

• Structural information:
  • Protein Domains: (24..5-)
    (/note="LRRNT-)
    (184..23-)
    (/note="LRRCT"-)
  • Interpro: IPR001611  IPR003591  IPR032675  IPR000372  
  • Prosite: PS51450
  • STRING: ENSP00000294818
• Other Databases: GeneCards:  LRRC52  Malacards:  LRRC52

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005249	voltage-gated potassium channel activity	IBA	molecular function
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0099104	potassium channel activator activity	IBA	molecular function
GO:0044325	ion channel binding	IBA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0022414	reproductive process	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0005267	potassium channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0099104	potassium channel activator activity	IDA	molecular function
GO:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:1903818	positive regulation of voltage-gated potassium channel activity	IDA	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0044325	ion channel binding	IPI	molecular function

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)