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    CPLX2 complexin 2 [ Homo sapiens (human) ]

    Gene ID: 10814, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CPLX2provided by HGNC
    Official Full Name
    complexin 2provided by HGNC
    Primary source
    HGNC:HGNC:2310
    See related
    Ensembl:ENSG00000145920 MIM:605033; AllianceGenome:HGNC:2310
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPX2; Hfb1; 921-L; CPX-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 disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 63.0) and adrenal (RPKM 12.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See CPLX2 in Genome Data Viewer
    Location:
    5q35.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (175796533..175884021)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (176340215..176427717)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (175223536..175311024)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene histamine receptor H2 Neighboring gene RNA, U6 small nuclear 226, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175156005-175156730 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175200075-175200861 Neighboring gene uncharacterized LOC124901140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175247615-175248115 Neighboring gene uncharacterized LOC105377744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175273819-175274388 Neighboring gene NANOG hESC enhancer GRCh37_chr5:175288336-175288837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175298998-175299721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175299722-175300444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175305917-175306647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175306648-175307378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175335086-175335928 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr5:175394535-175395057 Neighboring gene THOC3 antisense RNA 1 Neighboring gene THO complex subunit 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CPLX2 Regulates Ferroptosis and Apoptosis Through NRF2 Pathway in Human Hepatocellular Carcinoma Cells. Li H, et al. Appl Biochem Biotechnol, 2023 Jan. PMID 36107387
    2. Effect of time of day of insemination and the position of the egg in the oviduct on the fertility of turkeys. Christensen VL, et al. Poult Sci, 1977 Mar. PMID 605033
    3. Synaptic pathology in the anterior cingulate cortex in schizophrenia and mood disorders. A review and a Western blot study of synaptophysin, GAP-43 and the complexins. Eastwood SL, et al. Brain Res Bull, 2001 Jul 15. PMID 11576753
    4. Early changes in Huntington's disease patient brains involve alterations in cytoskeletal and synaptic elements. DiProspero NA, et al. J Neurocytol, 2004 Sep. PMID 15906159
    5. Modification of cognitive performance in schizophrenia by complexin 2 gene polymorphisms. Begemann M, et al. Arch Gen Psychiatry, 2010 Sep. PMID 20819981

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CPLX2 is a novel tumor suppressor and improves the prognosis in glioma.
      Title: CPLX2 is a novel tumor suppressor and improves the prognosis in glioma.
    2. CPLX2 Regulates Ferroptosis and Apoptosis Through NRF2 Pathway in Human Hepatocellular Carcinoma Cells.
      Title: CPLX2 Regulates Ferroptosis and Apoptosis Through NRF2 Pathway in Human Hepatocellular Carcinoma Cells.
    3. This study demonstrated that complexin-II differentially influence cognitive function in early and late stages of Alzheimer's disease.
      Title: Presynaptic proteins complexin-I and complexin-II differentially influence cognitive function in early and late stages of Alzheimer's disease.
    4. Then results indicated that CPLX2 may be involved in the etiology of schizophrenia and one of its potential biological mechanisms by studying the effects of CPLX2 risk variants on working memory load-dependent neural activity in a frontoparietal network.
      Title: Complexin2 modulates working memory-related neural activity in patients with schizophrenia.
    5. These results suggested that CPLX2 participated in synaptic taste transduction.
      Title: Expression of the synaptic exocytosis-regulating molecule complexin 2 in taste buds and its participation in peripheral taste transduction.
    6. CPLX2 rs1366116*T variant represents a risk factor of schizophrenia, and , at the same time, CPLX2 rs3892909*T variant is protective against schizophrenia (study performed in Armenians).
      Title: Risk and protective effects of the complexin-2 gene and gene-environment interactions in schizophrenia.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. CX2 level increased between the fetal and the 6-10 years groups and then plateaued
      Title: Regulation of complexin 1 and complexin 2 in the developing human prefrontal cortex.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Modification of cognitive performance in schizophrenia by complexin 2 gene polymorphisms.
    10. In schizophrenia, complexin II was reduced in dorsolateral prefrontal cortex and superior temporal cortex. The impairment of synaptic transmission may contribute to the dysfunction of cortical neural circuits that characterises the disorder.
      Title: Decreased expression of vesicular glutamate transporter 1 and complexin II mRNAs in schizophrenia: further evidence for a synaptic pathology affecting glutamate neurons.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138492

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables syntaxin-1 binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in modulation of chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of exocytosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of synaptic vesicle fusion to presynaptic active zone membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of synaptic vesicle fusion to presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptic vesicle exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle docking involved in exocytosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SNARE complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in calyx of Held IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in terminal bouton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    complexin-2
    Names
    CPX II
    complexin II
    synaphin 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001008220.2 → NP_001008221.1  complexin-2

      See identical proteins and their annotated locations for NP_001008221.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC138965, AK124837, AY576870, BI197868, U35100
      Consensus CDS
      CCDS4396.1
      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4
      UniProtKB/TrEMBL
      D6R960
      Related
      ENSP00000377346.3, ENST00000393745.8
      Conserved Domains (1) summary
      pfam05835
      Location:1 → 133
      Synaphin; Synaphin protein

    2. NM_006650.4 → NP_006641.1  complexin-2

      See identical proteins and their annotated locations for NP_006641.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC018760, AC138965, AK124837, AL707430, BI197868, U35100
      Consensus CDS
      CCDS4396.1
      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4
      UniProtKB/TrEMBL
      D6R960
      Related
      ENSP00000352544.4, ENST00000359546.8
      Conserved Domains (1) summary
      pfam05835
      Location:1 → 133
      Synaphin; Synaphin protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      175796533..175884021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416650.1 → XP_047272606.1  complexin-2 isoform X1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4

    2. XM_005265799.2 → XP_005265856.1  complexin-2 isoform X1

      See identical proteins and their annotated locations for XP_005265856.1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4
      UniProtKB/TrEMBL
      D6R960
      Conserved Domains (1) summary
      pfam05835
      Location:1 → 133
      Synaphin; Synaphin protein

    3. XM_047416651.1 → XP_047272607.1  complexin-2 isoform X1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4

    4. XM_005265798.2 → XP_005265855.1  complexin-2 isoform X1

      See identical proteins and their annotated locations for XP_005265855.1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4
      UniProtKB/TrEMBL
      D6R960
      Related
      ENSP00000421106.1, ENST00000509837.5
      Conserved Domains (1) summary
      pfam05835
      Location:1 → 133
      Synaphin; Synaphin protein

    5. XM_011534419.2 → XP_011532721.1  complexin-2 isoform X1

      See identical proteins and their annotated locations for XP_011532721.1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4
      UniProtKB/TrEMBL
      D6R960
      Related
      ENSP00000423612.1, ENST00000514150.5
      Conserved Domains (1) summary
      pfam05835
      Location:1 → 133
      Synaphin; Synaphin protein

    6. XM_017008964.2 → XP_016864453.1  complexin-2 isoform X1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4
      UniProtKB/TrEMBL
      D6R960
      Conserved Domains (1) summary
      pfam05835
      Location:1 → 133
      Synaphin; Synaphin protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      176340215..176427717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351474.1 → XP_054207449.1  complexin-2 isoform X1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4

    2. XM_054351478.1 → XP_054207453.1  complexin-2 isoform X1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4

    3. XM_054351476.1 → XP_054207451.1  complexin-2 isoform X1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4

    4. XM_054351479.1 → XP_054207454.1  complexin-2 isoform X1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4

    5. XM_054351475.1 → XP_054207450.1  complexin-2 isoform X1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4

    6. XM_054351477.1 → XP_054207452.1  complexin-2 isoform X1

      UniProtKB/Swiss-Prot
      B2RAG2, O09056, Q13329, Q28184, Q52M15, Q64386, Q6PUV4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032282.1: Suppressed sequence

      Description
      NM_032282.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PUV4.2 GenPept UniProtKB/Swiss-Prot:Q6PUV4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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