CBLN4 (cerebellin 4 precursor)

Gene

• Entrez ID: 140689
• Gene name: Cerebellin 4 precursor
• Gene symbol: CBLN4
• Synonyms (NCBI Gene): CBLNL1
• Chromosome: 20
• Chromosome location: 20q13.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017149	hsa-miR-335-5p	Microarray	18185580
MIRT865710	hsa-miR-142-5p	CLIP-seq
MIRT865711	hsa-miR-3145-3p	CLIP-seq
MIRT865712	hsa-miR-3942-5p	CLIP-seq
MIRT865713	hsa-miR-4452	CLIP-seq
MIRT865714	hsa-miR-4703-5p	CLIP-seq
MIRT865715	hsa-miR-548a-5p	CLIP-seq
MIRT865716	hsa-miR-548ab	CLIP-seq
MIRT865717	hsa-miR-548ak	CLIP-seq
MIRT865718	hsa-miR-548b-5p	CLIP-seq
MIRT865719	hsa-miR-548c-5p	CLIP-seq
MIRT865720	hsa-miR-548d-5p	CLIP-seq
MIRT865721	hsa-miR-548h	CLIP-seq
MIRT865722	hsa-miR-548i	CLIP-seq
MIRT865723	hsa-miR-548j	CLIP-seq
MIRT865724	hsa-miR-548k	CLIP-seq
MIRT865725	hsa-miR-548l	CLIP-seq
MIRT865726	hsa-miR-548w	CLIP-seq
MIRT865727	hsa-miR-548y	CLIP-seq
MIRT865728	hsa-miR-559	CLIP-seq
MIRT865729	hsa-miR-561	CLIP-seq
MIRT865730	hsa-miR-889	CLIP-seq
MIRT1956738	hsa-miR-323b-3p	CLIP-seq
MIRT1956739	hsa-miR-3664-3p	CLIP-seq
MIRT1956740	hsa-miR-4433	CLIP-seq
MIRT1956741	hsa-miR-4459	CLIP-seq
MIRT1956742	hsa-miR-4481	CLIP-seq
MIRT1956743	hsa-miR-4745-5p	CLIP-seq
MIRT1956744	hsa-miR-4768-3p	CLIP-seq
MIRT1956745	hsa-miR-510	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS
GO:0005615	Component	Extracellular space	IEA
GO:0009306	Process	Protein secretion	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0043083	Component	Synaptic cleft	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	ISS
GO:0099550	Process	Trans-synaptic signaling, modulating synaptic transmission	IEA
GO:1904862	Process	Inhibitory synapse assembly	IEA
GO:1904862	Process	Inhibitory synapse assembly	ISS

Other IDs

• MIM: 615029
• HGNC: 16231
• e!Ensembl: ENSG00000054803

Protein

• UniProt ID: Q9NTU7
• Protein name: Cerebellin-4 (Cerebellin-like glycoprotein 1)
• Protein function: Acts as a synaptic organizer in specific subsets of neurons in the brain (By similarity). Essential for the formation and maintenance of inhibitory GABAergic synapses (By similarity). Promotes the development of dendrite-targeting inhibitory GAB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00386	C1q	72 → 198	C1q domain	Domain

• Sequence:

  MGSGRRALSAVPAVLLVLTLPGLPVWAQNDTEPIVLEGKCLVVCDSNPATDSKGSSSSPL
  GISVRAANSKVAFSAVRSTNHEPSEMSNKTRIIYFDQILVNVGNFFTLESVFVAPRKGIY
  SFSFHVIKVYQSQTIQVNLMLNGKPVISAFAGDKDVTREAATNGVLLYLDKEDKVYLKLE
  KGNLVGGWQYSTFSGFLVFPL

• Sequence length: 201

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	BEFREE	30287486		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30287486		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	32783304	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32783304	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity Morbid	Obesity	Pubtator	31852448	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	25534236		★☆☆☆☆ Found in Text Mining only