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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CPLX4 Gene

protein-coding GIFtS: 41
GCID: GC18M056962

complexin 4

Explore 1 disease affiliated with
CPLX4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Complexin 4¹ ²
CPX-IV¹ ²
Complexin IV² ³
CPX IV² ³
CPXIV²
Complexin-4¹

External Ids:	HGNC: 24330¹	Entrez Gene: 339302²	Ensembl: ENSG00000166569⁷	OMIM: 609586⁵	UniProtKB: Q7Z7G2³

Export aliases for CPLX4 gene to outside databases

Previous GC identifers: GC18M056748 GC18M055112 GC18M055111 GC18M055113 GC18M053671

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CPLX4:

This gene likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle

exocytosis. (provided by RefSeq, Jan 2009)

UniProtKB/Swiss-Prot: CPLX4_HUMAN, Q7Z7G2

Function: Positively regulates a late step in synaptic vesicle exocytosis (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000018.9 NC_018929.1 NT_025028.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CPLX4 gene promoter:
Pbx1a AML1a MyoD C/EBPalpha HNF-1A AREB6 Nkx6-1 FOXO4 HNF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CPLX4 promoter sequence

Search SABiosciences Chromatin IP Primers for CPLX4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CPLX4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21.32 Ensembl cytogenetic band: 18q21.32 HGNC cytogenetic band: 18q21.32

CPLX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPLX4 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18M056962: view genomic region (about GC identifiers)

Start:	56,942,388 bp from pter	End:	56,985,881 bp from pter
Size:	43,494 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CPLX4_HUMAN, Q7Z7G2 (See protein sequence)

Recommended Name: Complexin-4 precursor

Size: 160 amino acids; 18336 Da

Subunit: Weakly binds to the SNARE core complex containing SNAP25, VAMP2 and STX1A (By similarity)

Subcellular location: Membrane; Lipid-anchor. Cell junction, synapse (By similarity). Note=Enriched at the synaptic

terminal (By similarity)

Explore the universe of human proteins at neXtProt for CPLX4: NX_Q7Z7G2

Post-translational modifications:

Farnesylation mediates presynaptic targeting and is important for function in neurotransmitter release (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q7Z7G2

CPLX4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_857637.1

ENSEMBL proteins:

ENSP00000466304 ENSP00000299721

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	IEA	--
GO:0030054	cell junction	IEA	--
GO:0045202	synapse	IEA	--

CPLX4 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CPLX4 for domains About GeneDecksing

1 InterPro domain/family:

IPR008849 Synaphin

Graphical View of Domain Structure for InterPro Entry Q7Z7G2

ProtoNet protein and cluster: Q7Z7G2

UniProtKB/Swiss-Prot: CPLX4_HUMAN, Q7Z7G2

Similarity: Belongs to the complexin/synaphin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CPLX4_HUMAN, Q7Z7G2

Function: Positively regulates a late step in synaptic vesicle exocytosis (By similarity)

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000149	SNARE binding	--	--
GO:0019905	syntaxin binding	IEA	--

CPLX4 for ontologies About GeneDecksing

Phenotypes:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cplx4):

nervous system

vision/eye

CPLX4 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Cplx4^tm1Bros for CPLX4

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In Situ Assay
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CPLX4

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006836	neurotransmitter transport	IEA	--
GO:0006887	exocytosis	IEA	--
GO:0046928	regulation of neurotransmitter secretion	IEA	--

CPLX4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for CPLX4 gene:

NM_181654.3

Unigene Cluster for CPLX4:

Complexin 4

Hs.449884 [show with all ESTs]

Unigene Representative Sequence: NM_181654

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000587244 ENST00000299721(uc002lhy.3)

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Additional cDNA sequence:

AB593158.1 AK123184.1 AY286502.1 BC065562.1 BC106886.2 BC106887.1 BC106888.1 BX640655.1

BX648518.1

2 DOTS entries:

DT.40254711 DT.99938306

13 AceView cDNA sequences:

NM_181654 AY286502 BC065562 AA365242 BX510095 BX640655 BM661846 BM661830

BU187675 AK123184 BX648518 BM689812 BG472915

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CPLX4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CPLX4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CPLX4 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.449884

SABiosciences Custom PCR Arrays for CPLX4

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CPLX4 gene from 4/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CPLX4¹	complexin 4	80(n) 87.5(a)		769026 XM_001231726.1 XP_001231727.1
lizard (Anolis carolinensis)	Reptilia	CPLX4⁶	--	86(a)	1 ↔ 1	GL343335.1(966991-1018086)
African clawed frog (Xenopus laevis)	Amphibia	CD256876.1²	--	74.56(n)		CD256876.1
zebrafish (Danio rerio)	Actinopterygii	cplx4a¹	complexin 4a	68.76(n) 74.21(a)		768157 NM_001077300.1 NP_001070768.1

ENSEMBL Gene Tree for CPLX4 (if available)
TreeFam Gene Tree for CPLX4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CPLX4 gene

CPLX3²

1 SIMAP similar gene for CPLX4 using alignment to 3 protein entries: CPLX4_HUMAN (see all proteins):

CPLX3

CPLX4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs188424509^1,2		--	56962144(+)	`TGAGAA/CAACGA`	1	--	ds500¹		0	--	--	--	--
rs34973625^1,2	C,F	--	56962147(+)	`GACAAC/TGACCA`	1	--	ds500¹		11		NA WA CSA	433
rs149099130^1,2		--	56962178(+)	`GGCAGA/TCAAGA`	1	--	ds500¹		0	--	--	--	--
rs143183281^1,2		--	56962188(+)	`AGGAAG/TTGCCA`	1	--	ds500¹		0	--	--	--	--
rs191783078^1,2		--	56962213(+)	`TTAGCA/TGAACT`	1	--	ds500¹		0	--	--	--	--
rs148282929^1,2		--	56962226(+)	`CTGCAC/TCTTTT`	1	--	ds500¹		0	--	--	--	--
rs184095802^1,2		--	56962256(+)	`TTGTCA/TTCCTG`	1	--	ds500¹		0	--	--	--	--
rs76414127^1,2	F	--	56962386(+)	`GCAGAG/ATCAGG`	1	--	ds500¹		1		EA	120
rs141141332^1,2		--	56962406(+)	`GAAAAC/TAAATG`	1	--	ds500¹		0	--	--	--	--
rs74931411^1,2	F	--	56962488(+)	`ACATGC/TCATTT`	1	--	ds500¹		1		EA	120

HapMap Linkage Disequilibrium report for CPLX4 (56942388 - 56985881 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CPLX4: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CPLX4 for disorders           About GeneDecksing

OMIM gene information: 609586    OMIM disorders: --

1 disease for CPLX4:    About MalaCards

retinitis

1 disease from the University of Copenhagen DISEASES database for CPLX4:

Cocaine dependence

Export disorders for CPLX4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CPLX4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CPLX4)

Utopia: connect your pdf to the dynamic
world of online information

Structurally and functionally unique complexins at retinal ribbon synapses. (PubMed id 15911881)^{1, 2, 3} Reim K.... Brose N. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)¹ Oshikawa M.... Kato S. (2011)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)
The carboxy-terminal domain of complexin I stimulates liposome fusion. (PubMed id 19179400)⁹ Malsam J....SAPllner T.H. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 339302	HGNC: 24330	AceView: CPLX4	Ensembl:ENSG00000166569	euGenes: HUgn339302
ECgene: CPLX4	H-InvDB: CPLX4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CPLX4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CPLX4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CPLX4 gene:
Search GeneIP for patents involving CPLX4

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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	OriGene siRNA for CPLX4		Browse 3'-UTR reporter clones for miRNA target validation
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CPLX4		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CPLX4
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for CPLX4		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for CPLX4		OriGene Custom Protein Services for CPLX4
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CPLX4
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CPLX4
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CPLX4
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CPLX4
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CPLX4
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CPLX4

	GenScript Custom Purified and Recombinant Proteins Services for CPLX4		GenScript cDNA clones with any tag delivered in your preferred vector for CPLX4
	GenScript Custom Assay Services for CPLX4		GenScript Custom Superior Antibodies Services for CPLX4
	GenScript Custom overexpressing Cell Line Services for CPLX4		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in CPLX4 promoter
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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	See all of Abcam's Antibodies, Kits and Proteins for CPLX4
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPLX4

	SwitchGear 3'UTR luciferase reporter plasmids for CPLX4
	SwitchGear Promoter luciferase reporter plasmids for CPLX4

Search ThermoFisher Antibodies for CPLX4

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPLX4

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CPLX4

Sirion Biotech Customized:

	stable knockdown cell line services for CPLX4
	inducible knockdown cell line services for CPLX4
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	adenovirus for potent knockdown of CPLX4
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	stable overexpressing cell line services for CPLX4
	inducible overexpressing cell line services for CPLX4

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes CPLX4 gene at Home site.

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complexin 4

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CPLX4 Gene

complexin 4

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