Gene Gene information from NCBI Gene database.
Entrez ID 10814
Gene name Complexin 2
Gene symbol CPLX2
Synonyms (NCBI Gene)
921-LCPX-2CPX2Hfb1
Chromosome 5
Chromosome location 5q35.2
Summary Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and di
miRNA miRNA information provided by mirtarbase database.
179
miRTarBase ID miRNA Experiments Reference
MIRT713799 hsa-miR-574-3p HITS-CLIP 19536157
MIRT713798 hsa-miR-1306-5p HITS-CLIP 19536157
MIRT713797 hsa-miR-3622a-3p HITS-CLIP 19536157
MIRT713796 hsa-miR-3622b-3p HITS-CLIP 19536157
MIRT713795 hsa-miR-6765-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IBA
GO:0000149 Function SNARE binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605033 2310 ENSG00000145920
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PUV4
Protein name Complexin-2 (Complexin II) (CPX II) (Synaphin-1)
Protein function Negatively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and ot
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05835 Synaphin 1 133 Synaphin protein Family
Tissue specificity TISSUE SPECIFICITY: Nervous system. In hippocampus and cerebellum, expressed mainly by excitatory neurons. Down-regulated in brain cortex from patients suffering from Huntington disease, bipolar disorder or major depression. Down-regulated in cerebellum f
Sequence
Sequence length 134
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Synaptic vesicle cycle  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 31699905 Inhibit
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 22832958 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 21832240
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASCAT_DG 23527680
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder CTD_human_DG 14708030
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Diseases Brain disease Pubtator 25297695 Associate
★☆☆☆☆
Found in Text Mining only
Brain Injuries Traumatic Brain injuries Pubtator 25297695 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36581948 Associate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 25297695 Associate
★☆☆☆☆
Found in Text Mining only
Cushing's symphalangism Proximal symphalangism Pubtator 23912489 Stimulate
★☆☆☆☆
Found in Text Mining only