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CPLX2 complexin 2 [ Homo sapiens (human) ]

Gene ID: 10814, updated on 14-Nov-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
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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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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 Variation Viewer (GRCh37.p13)

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 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

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