CPLX2 Gene (Protein Coding)

Complexin 2

GC05P175797
GIFtS:
41
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. [pr... See more...

Aliases for CPLX2 Gene

Aliases for CPLX2 Gene

  • Complexin 2 2 3 5
  • Complexin II 3 4
  • Complexin-2 3 4
  • CPX II 3 4
  • Synaphin 1 3
  • Synaphin-1 4
  • 921-L 3
  • CPX-2 3
  • CPX2 3
  • Hfb1 3

External Ids for CPLX2 Gene

Previous GeneCards Identifiers for CPLX2 Gene

  • GC05P175537
  • GC05P176044
  • GC05P175159
  • GC05P175204
  • GC05P175156
  • GC05P170322

Summaries for CPLX2 Gene

Entrez Gene Summary 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 Neuroscience and Synaptic vesicle cycle. 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 Summary 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).

Gene Wiki entry for CPLX2 Gene

Additional gene information for CPLX2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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
GH05J175797 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +1.2 1205 1.8 SIN3A ZBTB40 SREBF1 ZBTB6 MLX RBPJ CTBP1 USF2 NR2F1 MIXL1 CPLX2 lnc-HRH2-4 FAF2 LOC105377744 RF00017-5128
GH05J175870 Promoter/Enhancer 1.8 EPDnew Ensembl CraniofacialAtlas dbSUPER 750.2 +76.0 75991 2.2 ZNF785 SIN3A CTCF SREBF1 RBPJ MIXL1 NFYC HLF MAX MNT NONHSAG042305.2 CPLX2 FAF2 ENSG00000250909 ENSG00000251414 HIGD2A piR-38136 RF00017-5128
GH05J175796 Promoter 0.6 EPDnew 750.6 0.0 -30 0.1 PRDM1 ZNF623 ZNF335 CPLX2 lnc-HRH2-4 piR-42286 RF00017-5128
GH05J176386 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 +592.1 592112 4.1 E2F8 ZNF785 SIN3A SP1 ZBTB40 SIX5 ZBTB6 RBPJ POLR2A CTBP1 HIGD2A NOP16 lnc-CLTB-1 FAF2 NSD1 UIMC1 ENSG00000251414 ENSG00000250909 ENSG00000240729 ZNF346-IT1
GH05J176410 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 +618.6 618606 8.8 ZNF24 SP1 CTCF SREBF1 POLR2A MIXL1 MYC NFYC ZNF701 L3MBTL2 CLTB ARL10 UIMC1 ENSG00000251414 FAF2 NSD1 HIGD2A UNC5A GPRIN1 NOP16
- 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
  • ATF-2
  • c-Jun
  • NRSF form 1
  • NRSF form 2

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:
CPLX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPLX2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CPLX2 Gene

Proteins for CPLX2 Gene

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  • Protein details for CPLX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PUV4-CPLX2_HUMAN
    Recommended name:
    Complexin-2
    Protein Accession:
    Q6PUV4
    Secondary Accessions:
    • 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.

neXtProt entry for CPLX2 Gene

Protein Expression for CPLX2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CPLX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CPLX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for CPLX2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CPLX2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52864, moderately similar to Complexin-2 (B4DEW3_HUMAN)
  • Synaphin-1 (CPLX2_HUMAN)
  • Complexin 2, isoform CRA_a (D3DQN5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PUV4

UniProtKB/Swiss-Prot:

CPLX2_HUMAN :
  • Belongs to the complexin/synaphin family.
Family:
  • Belongs to the complexin/synaphin family.
genes like me logo Genes that share domains with CPLX2: view

Function for CPLX2 Gene

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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

Gene Ontology (GO) - Molecular Function for CPLX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA 21873635
GO:0017075 syntaxin-1 binding IBA 21873635
GO:0019905 syntaxin binding IEA --
GO:0048306 calcium-dependent protein binding IEA --
genes like me logo Genes that share ontologies with CPLX2: view
genes like me logo Genes that share phenotypes with CPLX2: view

Animal Models for CPLX2 Gene

MGI Knock Outs for CPLX2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPLX2

Clone Products

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPLX2 gene
Compartment Confidence
cytosol 5
nucleus 2
lysosome 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CPLX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0030425 dendrite IEA --
GO:0031201 SNARE complex IBA 21873635
GO:0042629 mast cell granule IEA --
genes like me logo Genes that share ontologies with CPLX2: view

Pathways & Interactions for CPLX2 Gene

PathCards logo

SuperPathways for CPLX2 Gene

genes like me logo Genes that share pathways with CPLX2: view

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

Gene Ontology (GO) - Biological Process for CPLX2 Gene

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 IBA 21873635
genes like me logo Genes that share ontologies with CPLX2: view

No data available for SIGNOR curated interactions for CPLX2 Gene

Drugs & Compounds for CPLX2 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for CPLX2 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CPLX2 Gene

(2) REFSEQ mRNAs :
(19) Additional mRNA sequences :
(162) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPLX2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CPLX2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
SP1: - - - - -
SP2: - - - - -
SP3: - -
SP4:
SP5:

Relevant External Links for CPLX2 Gene

GeneLoc Exon Structure for
CPLX2
ECgene alternative splicing isoforms for
CPLX2

Expression for CPLX2 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CPLX2 Gene

mRNA expression in normal human tissues for CPLX2 Gene
mRNA expression by GTEx for CPLX2 GenemRNA expression by BioGPS for CPLX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for CPLX2 Gene

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



Protein tissue co-expression partners for CPLX2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CPLX2 Gene:

CPLX2

SOURCE GeneReport for Unigene cluster for CPLX2 Gene:

Hs.193235

mRNA 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)
genes like me logo Genes that share expression patterns with CPLX2: view

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.

Orthologs for CPLX2 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
 Mammalia CPLX2 33
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia CPLX2 33 32
  • 98.94 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CPLX2 33 32
  • 94.28 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CPLX2 33 32
  • 93.53 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cplx2 17 33 32
  • 92.79 (n)
rat
(Rattus norvegicus)
 Mammalia Cplx2 32
  • 92.04 (n)
chicken
(Gallus gallus)
 Aves CPLX2 33
  • 100 (a)
 OneToOne
LOC100857281 32
  • 89.8 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia cplx2 32
  • 80.1 (n)
Str.15513 32
African clawed frog
(Xenopus laevis)
 Amphibia MGC68923 32
zebrafish
(Danio rerio)
 Actinopterygii cplx2 33 32
  • 81.59 (n)
 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

Paralogs for CPLX2 Gene

(1) SIMAP similar genes for CPLX2 Gene using alignment to 7 proteins:

  • CPLX2_HUMAN
  • D3DQN5_HUMAN
  • D6R960_HUMAN
  • D6RBA5_HUMAN
  • D6RDN3_HUMAN
  • D6RGY3_HUMAN
  • D6RI05_HUMAN
genes like me logo Genes that share paralogs with CPLX2: view

Variants for CPLX2 Gene

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Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for CPLX2 Gene

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

Variation tolerance for CPLX2 Gene

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

Human Gene Mutation Database (HGMD)
CPLX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPLX2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPLX2 Gene

Disorders for CPLX2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CPLX2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
huntington disease
  • hd
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with CPLX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CPLX2 Gene

Publications for CPLX2 Gene

  1. 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 23 56
  2. No association of complexin1 and complexin2 genes with schizophrenia in a Japanese population. (PMID: 16442780) Kishi T … Iwata N (Schizophrenia research 2006) 3 23 43 56
  3. 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 23 43 56
  4. 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 23 56
  5. Complexins: cytosolic proteins that regulate SNAP receptor function. (PMID: 7553862) McMahon HT … Südhof TC (Cell 1995) 2 3 4 56

ExternalLinks

View latest publications for CPLX2 gene in Mastermind

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