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CPLX2 complexin 2 [ Homo sapiens (human) ]

Gene ID: 10814, updated on 24-Nov-2020

Summary

Official Symbol
CPLX2provided by HGNC
Official Full Name
complexin 2provided by HGNC
Primary source
HGNC:HGNC:2310
See related
Ensembl:ENSG00000145920 MIM:605033
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

Genomic context

See CPLX2 in Genome Data Viewer
Location:
5q35.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (175796533..175884021)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (175223542..175311024)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377743 Neighboring gene Sharpr-MPRA regulatory region 12912 Neighboring gene histamine receptor H2 Neighboring gene RNA, U6 small nuclear 226, pseudogene Neighboring gene uncharacterized LOC105377744 Neighboring gene uncharacterized LOC107986485 Neighboring gene uncharacterized LOC107986486 Neighboring gene THO complex 3

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.
GeneReviews: Not available
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138492

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001008220.2NP_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
    Q6PUV4
    Related
    ENSP00000377346.3, ENST00000393745.8
    Conserved Domains (1) summary
    pfam05835
    Location:1133
    Synaphin; Synaphin protein
  2. NM_006650.4NP_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
    Q6PUV4
    Related
    ENSP00000352544.4, ENST00000359546.8
    Conserved Domains (1) summary
    pfam05835
    Location:1133
    Synaphin; Synaphin protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_005265856.1

    UniProtKB/Swiss-Prot
    Q6PUV4
    Conserved Domains (1) summary
    pfam05835
    Location:1133
    Synaphin; Synaphin protein
  2. XM_005265798.1XP_005265855.1  complexin-2 isoform X1

    See identical proteins and their annotated locations for XP_005265855.1

    UniProtKB/Swiss-Prot
    Q6PUV4
    Related
    ENSP00000421106.1, ENST00000509837.5
    Conserved Domains (1) summary
    pfam05835
    Location:1133
    Synaphin; Synaphin protein
  3. XM_011534419.1XP_011532721.1  complexin-2 isoform X1

    See identical proteins and their annotated locations for XP_011532721.1

    UniProtKB/Swiss-Prot
    Q6PUV4
    Related
    ENSP00000423612.1, ENST00000514150.5
    Conserved Domains (1) summary
    pfam05835
    Location:1133
    Synaphin; Synaphin protein
  4. XM_017008964.1XP_016864453.1  complexin-2 isoform X1

    UniProtKB/Swiss-Prot
    Q6PUV4
    Conserved Domains (1) summary
    pfam05835
    Location:1133
    Synaphin; Synaphin protein
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