CBLN2 (cerebellin 2 precursor)

Gene

• Entrez ID: 147381
• Gene name: Cerebellin 2 precursor
• Gene symbol: CBLN2
• Synonyms (NCBI Gene): -
• Chromosome: 18
• Chromosome location: 18q22.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT638915	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT638914	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT638913	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT638912	hsa-miR-105-3p	HITS-CLIP	23824327
MIRT638911	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT638910	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT638915	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT638914	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT638913	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT638912	hsa-miR-105-3p	HITS-CLIP	23824327
MIRT638911	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT638910	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT638915	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT638914	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT638913	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT638912	hsa-miR-105-3p	HITS-CLIP	23824327
MIRT638911	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT638910	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT638915	hsa-miR-7109-3p	HITS-CLIP	23824327
MIRT638914	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT638913	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT638912	hsa-miR-105-3p	HITS-CLIP	23824327
MIRT638911	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT638910	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT865670	hsa-miR-2116	CLIP-seq
MIRT865671	hsa-miR-3189-3p	CLIP-seq
MIRT865672	hsa-miR-3606	CLIP-seq
MIRT865673	hsa-miR-4320	CLIP-seq
MIRT865674	hsa-miR-450b-3p	CLIP-seq
MIRT865675	hsa-miR-4642	CLIP-seq
MIRT865676	hsa-miR-4643	CLIP-seq
MIRT865677	hsa-miR-4733-3p	CLIP-seq
MIRT865678	hsa-miR-502-5p	CLIP-seq
MIRT865679	hsa-miR-769-3p	CLIP-seq
MIRT865680	hsa-miR-921	CLIP-seq
MIRT1956737	hsa-miR-1284	CLIP-seq
MIRT2194007	hsa-miR-2115	CLIP-seq
MIRT2194008	hsa-miR-224	CLIP-seq
MIRT2194009	hsa-miR-3919	CLIP-seq
MIRT2194010	hsa-miR-4705	CLIP-seq
MIRT2194011	hsa-miR-513a-5p	CLIP-seq
MIRT2194012	hsa-miR-526b	CLIP-seq
MIRT2194013	hsa-miR-885-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0007416	Process	Synapse assembly	IEA
GO:0043083	Component	Synaptic cleft	IEA
GO:0043083	Component	Synaptic cleft	ISS
GO:0045202	Component	Synapse	IBA
GO:0050808	Process	Synapse organization	IEA
GO:0050808	Process	Synapse organization	ISS
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0098814	Process	Spontaneous synaptic transmission	IEA
GO:0098814	Process	Spontaneous synaptic transmission	ISS
GO:0098820	Component	Trans-synaptic protein complex	IEA
GO:0098820	Component	Trans-synaptic protein complex	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099550	Process	Trans-synaptic signaling, modulating synaptic transmission	IEA
GO:0099558	Process	Maintenance of synapse structure	IBA
GO:0099558	Process	Maintenance of synapse structure	IEA
GO:0099558	Process	Maintenance of synapse structure	ISS

Other IDs

• MIM: 600433
• HGNC: 1544
• e!Ensembl: ENSG00000141668

Protein

• UniProt ID: Q8IUK8
• Protein name: Cerebellin-2
• Protein function: Acts as a synaptic organizer in specific subsets of neurons in the brain. Essential for long-term maintenance but not establishment of excitatory synapses. Functions as part of a trans-synaptic complex by binding to postsynaptic GRID1 and presyn
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00386	C1q	94 → 221	C1q domain	Domain

• Sequence:

  MQAPGRGPLGLRLMMPGRRGALREPGGCGSCLGVALALLLLLLPACCPVRAQNDTEPIVL
  EGKCLVVCDSSPSADGAVTSSLGISVRSGSAKVAFSATRSTNHEPSEMSNRTMTIYFDQV
  LVNIGNHFDLASSIFVAPRKGIYSFSFHVVKVYNRQTIQVSLMQNGYPVISAFAGDQDVT
  REAASNGVLLLMEREDKVHLKLERGNLMGGWKYSTFSGFLVFPL

• Sequence length: 224

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCIUM METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF DEVELOPMENT OR MORPHOGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30287486		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30287486		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22948383		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	21876473	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	34182539	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	22948383		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	26820968	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26820968		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23502781, 24442418, 27770446		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	30621171		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	22948383		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	23502781, 26820968	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations