CBLN2 (cerebellin 2 precursor)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
147381
Gene name Gene Name - the full gene name approved by the HGNC.
Cerebellin 2 precursor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CBLN2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q22.3
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(43)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(18)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600433 1544 ENSG00000141668
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (8)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Biliary Atresia Biliary atresia N/A N/A GWAS
Breast Cancer Postmenopausal breast cancer N/A N/A GWAS
Cervical Cancer Cervical cancer N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 21876473
Colonic Neoplasms Associate 34182539
Hypertension Pulmonary Associate 26820968
Pterygium Associate 40033254
Pulmonary Arterial Hypertension Associate 23502781, 26820968