• Gene id: 140689

Gene Summary

• Gene Symbol: CBLN4   Gene   UCSC   Ensembl
• Aliases: CBLNL1
• Gene name: cerebellin 4 precursor
• Alternate names: cerebellin-4, cerebellin precursor-like 1, cerebellin-like glycoprotein 1,
• Gene location: 20q13.2 (56005518: 55997356)     Exons: 3     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes w
• OMIM: 615029

Protein Summary

• Protein general information: Q9NTU7  
  • Name: Cerebellin 4 (Cerebellin like glycoprotein 1)
  • Length: 201  
  • Mass: 21808
• Sequence:

  MGSGRRALSAVPAVLLVLTLPGLPVWAQNDTEPIVLEGKCLVVCDSNPATDSKGSSSSPLGISVRAANSKVAFSA
  VRSTNHEPSEMSNKTRIIYFDQILVNVGNFFTLESVFVAPRKGIYSFSFHVIKVYQSQTIQVNLMLNGKPVISAF
  AGDKDVTREAATNGVLLYLDKEDKVYLKLEKGNLVGGWQYSTFSGFLVFPL

• Structural information:
  • Protein Domains: (66..20-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR008983  
  • Prosite: PS50871
  • STRING: ENSP00000064571
• Other Databases: GeneCards:  CBLN4  Malacards:  CBLN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030054	cell junction	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:1904862	inhibitory synapse assembly	IEA	biological process
GO:0009306	protein secretion	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:1904862	inhibitory synapse assembly	ISS	biological process
GO:0005576	extracellular region	ISS	cellular component
GO:0098982	GABA-ergic synapse	ISS	cellular component

Diseases

Associated diseases	References
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)