• Gene id: 147381

Gene Summary

• Gene Symbol: CBLN2   Gene   UCSC   Ensembl
• Gene name: cerebellin 2 precursor
• Alternate names: cerebellin-2,
• Gene location: 18q22.3 (72638484: 72533719)     Exons: 7     NC_000018.10
• OMIM: 617307

Protein Summary

• Protein general information: Q8IUK8  
  • Name: Cerebellin 2
  • Length: 224  
  • Mass: 24084
• Sequence:

  MQAPGRGPLGLRLMMPGRRGALREPGGCGSCLGVALALLLLLLPACCPVRAQNDTEPIVLEGKCLVVCDSSPSAD
  GAVTSSLGISVRSGSAKVAFSATRSTNHEPSEMSNRTMTIYFDQVLVNIGNHFDLASSIFVAPRKGIYSFSFHVV
  KVYNRQTIQVSLMQNGYPVISAFAGDQDVTREAASNGVLLLMEREDKVHLKLERGNLMGGWKYSTFSGFLVFPL

• Structural information:
  • Protein Domains: (88..22-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR008983  
  • Prosite: PS50871
  • STRING: ENSP00000269503
• Other Databases: GeneCards:  CBLN2  Malacards:  CBLN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0099558	maintenance of synapse structure	ISS	biological process
GO:0098814	spontaneous synaptic transmission	ISS	biological process
GO:0050808	synapse organization	ISS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0051965	positive regulation of synapse assembly	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0050808	synapse organization	IEA	biological process
GO:0098814	spontaneous synaptic transmission	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099558	maintenance of synapse structure	IEA	biological process
GO:1905606	regulation of presynapse assembly	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
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