Aliases for CPLX2 Gene
Aliases for CPLX2 Gene
External Ids for CPLX2 Gene
- HGNC: 2310
- Entrez Gene: 10814
- Ensembl: ENSG00000145920
- OMIM: 605033
- UniProtKB: Q6PUV4
Previous GeneCards Identifiers for CPLX2 Gene
- GC05P175537
- GC05P176044
- GC05P175159
- GC05P175204
- GC05P175156
- GC05P170322
Summaries for CPLX2 Gene
-
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 disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CPLX2 Gene
CPLX2 (Complexin 2) is a Protein Coding gene. Diseases associated with CPLX2 include Huntington Disease and Schizophrenia. Among its related pathways are Synaptic vesicle cycle and Neuroscience. Gene Ontology (GO) annotations related to this gene include syntaxin binding and SNARE binding. An important paralog of this gene is CPLX1.
UniProtKB/Swiss-Prot for CPLX2 Gene
-
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 other secretory vesicles. Also involved in mast cell exocytosis (By similarity).
Additional gene information for CPLX2 Gene
- Monarch Initiative
- Search for CPLX2 at DataMed
- Search for CPLX2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPLX2 Gene
Genomics for CPLX2 Gene
GeneHancer (GH) Regulatory Elements for CPLX2 Gene
Promoters and enhancers for CPLX2 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH05J175796 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE | 650.7 | +1.0 | 1031 | 2.2 | MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF766 CBX5 | CPLX2 FAF2 GC05P175814 GC05P175702 | |
| GH05J175870 | Promoter/Enhancer | 1.7 | EPDnew Ensembl dbSUPER | 650.2 | +75.9 | 75919 | 2.5 | ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 SLC30A9 ZNF766 ZNF143 | CPLX2 FAF2 ENSG00000250909 ENSG00000251414 HIGD2A PIR61181 PIR44146 GC05M175888 | |
| GH05J175900 | Enhancer | 0.3 | dbSUPER | 4.8 | +104.5 | 104474 | 0.9 | GATA3 | CPLX2 ENSG00000280068 PIR43190 | |
| GH05J175875 | Enhancer | 0.4 | FANTOM5 dbSUPER | 2.2 | +79.3 | 79258 | 0.4 | DRD1 CPLX2 SIMC1 PIR61181 GC05M175888 PIR44146 | ||
| GH05J175809 | Enhancer | 0.8 | ENCODE | 0.4 | +13.7 | 13729 | 1.1 | SIN3A ZEB1 ZNF366 FOS EGR2 REST ZEB2 SP1 ZNF217 MTA1 | GC05P175814 CPLX2 GC05P175702 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CPLX2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CPLX2 gene promoter:
-
- AP-1
- NRSF form 2
- NRSF form 1
- ATF-2
- c-Jun
Regulatory Element Products
Genomic Locations for CPLX2 Gene
Genomic Locations for CPLX2 Gene
- chr5:175,796,310-175,884,021
- (GRCh38/hg38)
- Size:
- 87,712 bases
- Orientation:
- Plus strand
- chr5:175,223,313-175,311,023
- (GRCh37/hg19)
- Size:
- 87,711 bases
- Orientation:
- Plus strand
Genomic View for CPLX2 Gene
Genes around CPLX2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q35.2 by Entrez Gene
- 5q35.2 by HGNC
- 5q35.2 by Ensembl
CPLX2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CPLX2 Gene
Proteins for CPLX2 Gene
-
Protein details for CPLX2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6PUV4-CPLX2_HUMAN
- Recommended name:
- Complexin-2
- Protein Accession:
- Q6PUV4
- B2RAG2
- O09056
- Q13329
- Q28184
- Q52M15
- Q64386
Protein attributes for CPLX2 Gene
- Size:
- 134 amino acids
- Molecular mass:
- 15394 Da
- Quaternary structure:
-
- Binds to the SNARE core complex containing SNAP25, VAMP2 and STX1A.
Protein Expression for CPLX2 Gene
Post-translational modifications for CPLX2 Gene
Other Protein References for CPLX2 Gene
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- R&D Systems Antibodies for CPLX2 (Complexin-2)
-
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-
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-
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Assay Products
No data available for DME Specific Peptides for CPLX2 Gene
Domains & Families for CPLX2 Gene
Gene Families for CPLX2 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for CPLX2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6PUV4- Family:
-
- Belongs to the complexin/synaphin family.
Function for CPLX2 Gene
Molecular function for CPLX2 Gene
- UniProtKB/Swiss-Prot 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 other secretory vesicles. Also involved in mast cell exocytosis (By similarity).
- GENATLAS Biochemistry:
- complexin 2,ubiquitously expressed at low levels,enriched in serum and colocalyzing with syntaxin and SNAP25,binding and potentially regulating the SNAP receptor core complex
Phenotypes From GWAS Catalog for CPLX2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000149 | SNARE binding | IBA | -- |
| GO:0017075 | syntaxin-1 binding | IEA | -- |
| GO:0019905 | syntaxin binding | IEA | -- |
| GO:0048306 | calcium-dependent protein binding | IEA | -- |
Phenotypes for CPLX2 Gene
- MGI mutant phenotypes for CPLX2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CPLX2:
Animal Model Products
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-
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-
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-
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miRNA for CPLX2 Gene
- miRTarBase miRNAs that target CPLX2
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- Sino Biological Human cDNA Clone for CPLX2
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- Applied Biological Materials Clones for CPLX2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CPLX2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CPLX2 Gene
Localization for CPLX2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CPLX2 Gene
- Cytoplasm, cytosol. Note=Enriched at synaptic-releasing sites in mature neurons. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 2 |
| lysosome | 2 |
| plasma membrane | 1 |
- Vesicles (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
| GO:0030425 | dendrite | IEA | -- |
| GO:0031201 | SNARE complex | IEA,IBA | -- |
| GO:0042629 | mast cell granule | IEA | -- |
Pathways & Interactions for CPLX2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Synaptic vesicle cycle | ||
| 2 | Neuroscience | ||
Pathways by source for CPLX2 Gene
1 BioSystems pathway for CPLX2 Gene
1 KEGG pathway for CPLX2 Gene
1 Cell Signaling Technology pathway for CPLX2 Gene
Interacting Proteins for CPLX2 Gene
GPS-Prot Interaction Network for CPLX2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006836 | neurotransmitter transport | IEA | -- |
| GO:0006887 | exocytosis | IEA | -- |
| GO:0006904 | vesicle docking involved in exocytosis | TAS | 7553862 |
| GO:0007399 | nervous system development | IEA | -- |
| GO:0016079 | synaptic vesicle exocytosis | IEA | -- |
No data available for SIGNOR curated interactions for CPLX2 Gene
Transcripts for CPLX2 Gene
mRNA/cDNA for CPLX2 Gene
- (6) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (162) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000359546 5023 bps (uc003mde.2)
- ENST00000506642 565 bps (uc063jvq.1)
- ENST00000515502 469 bps (uc063jvr.1)
- ENST00000509837 557 bps (uc063jvs.1)
- ENST00000393745 826 bps (uc003mdf.2)
CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for CPLX2
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- Applied Biological Materials Clones for CPLX2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||
| SP5: |
Expression for CPLX2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Epiblast (Early Embryonic Tissues)
mRNA differential expression in normal tissues according to GTEx for CPLX2 Gene
This gene is overexpressed in Brain - Hippocampus (x6.7), Brain - Amygdala (x6.4), Brain - Cerebellar Hemisphere (x5.8), Brain - Cortex (x5.4), Brain - Frontal Cortex (BA9) (x5.3), and Brain - Cerebellum (x5.0).
This gene is overexpressed in Brain (43.1) and Fetal Brain (10.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CPLX2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CPLX2 Gene:
CPLX2SOURCE GeneReport for Unigene cluster for CPLX2 Gene:
Hs.193235mRNA Expression by UniProt/SwissProt for CPLX2 Gene:
Q6PUV4-CPLX2_HUMAN
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 from patients with schizophrenia.
Evidence on tissue expression from TISSUES for CPLX2 Gene
- Nervous system(5)
Primer Products
-
OriGene qPCR primer pairs for CPLX2
-
OriGene qPCR primer pairs and template standards for CPLX2
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Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CPLX2 Gene
Orthologs for CPLX2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| oppossum (Monodelphis domestica) |
Mammalia | CPLX2 34 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | CPLX2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CPLX2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CPLX2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cplx2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cplx2 33 |
|
||
| chicken (Gallus gallus) |
Aves | CPLX2 34 |
|
OneToOne | |
| LOC100857281 33 |
|
||||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cplx2 33 |
|
||
| Str.15513 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68923 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cplx2 34 33 |
|
ManyToMany |
- Species where no ortholog for CPLX2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for CPLX2 Gene
- ENSEMBL:
- Gene Tree for CPLX2 (if available)
- TreeFam:
- Gene Tree for CPLX2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CPLX2: view image
Paralogs for CPLX2 Gene
Variants for CPLX2 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000003219 | -- | 175,840,157(+) | TTTTTT/TTTTT | genic_upstream_transcript_variant, intron_variant | |
| rs1000031761 | -- | 175,882,174(+) | G/A | 3_prime_UTR_variant | |
| rs1000040278 | -- | 175,802,505(+) | T/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000050367 | -- | 175,841,081(+) | A/AGA | genic_upstream_transcript_variant, intron_variant | |
| rs1000059782 | -- | 175,882,009(+) | G/C | 3_prime_UTR_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2663183 | CNV | deletion | 23128226 |
| esv3607656 | CNV | loss | 21293372 |
| nsv462538 | CNV | loss | 19166990 |
| nsv475505 | CNV | novel sequence insertion | 20440878 |
| nsv950450 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.25;
5.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CPLX2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPLX2 Gene
Disorders for CPLX2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| huntington disease |
|
|
| schizophrenia |
|
Search CPLX2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CPLX2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for CPLX2 Gene
Publications for CPLX2 Gene
- Structural organization of the human complexin 2 gene (CPLX2) and aspects of its functional activity. (PMID: 16162394) Raevskaya NM … Limborska SA (Gene 2005) 2 3 4 22 58
- No association of complexin1 and complexin2 genes with schizophrenia in a Japanese population. (PMID: 16442780) Kishi T … Iwata N (Schizophrenia research 2006) 3 22 44 58
- Association study of polymorphisms in synaptic vesicle-associated genes, SYN2 and CPLX2, with schizophrenia. (PMID: 16131404) Lee HJ … Fukumaki Y (Behavioral and brain functions : BBF 2005) 3 22 44 58
- Early changes in Huntington's disease patient brains involve alterations in cytoskeletal and synaptic elements. (PMID: 15906159) DiProspero NA … Tagle DA (Journal of neurocytology 2004) 3 4 22 58
- Complexins: cytosolic proteins that regulate SNAP receptor function. (PMID: 7553862) McMahon HT … Südhof TC (Cell 1995) 2 3 4 58
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- GeneTex CPLX2 Antibody for CPLX2
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Sources for CPLX2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
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- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt