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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CDC42EP5 Gene

protein-coding GIFtS: 48
GCID: GC19M054976

CDC42 effector protein (Rho GTPase binding) 5

Explore 1 disease affiliated with
CDC42EP5 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
CDC42 Effector Protein (Rho GTPase Binding) 5¹ ²		1700027J19Rik²
CEP5¹ ² ³		2010007O02Rik²
Borg3¹ ²		Cdc42 Effector Protein 5²
Binder Of Rho GTPases 3² ³		BORG3³

External Ids:	HGNC: 17408¹	Entrez Gene: 148170²	Ensembl: ENSG00000167617⁷	OMIM: 609171⁵	UniProtKB: Q6NZY7³

Export aliases for CDC42EP5 gene to outside databases

Previous GC identifers: GC19M055400 GC19M059652 GC19M059668 GC19M051301

(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 CDC42EP5:

CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the

downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector

proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively

regulate the function of, CDC42. The specific function of this protein has not yet been determined. (provided by

RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: BORG3_HUMAN, Q6NZY7

Function: Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin

filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits MAPK8

independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by CDC42 (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_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CDC42EP5 gene promoter:
Spz1 Pax-5 ATF-2 E47 CRE-BP1 CREB Hand1 LyF-1 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CDC42EP5 promoter sequence

Search SABiosciences Chromatin IP Primers for CDC42EP5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDC42EP5

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

Entrez Gene cytogenetic band: 19q13.42 Ensembl cytogenetic band: 19q13.42 HGNC cytogenetic band: 19q13.42

CDC42EP5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDC42EP5 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M054976: view genomic region (about GC identifiers)

Start:	54,976,210 bp from pter	End:	54,984,422 bp from pter
Size:	8,213 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: BORG3_HUMAN, Q6NZY7 (See protein sequence)

Recommended Name: Cdc42 effector protein 5

Size: 148 amino acids; 15207 Da

Subunit: Interacts with CDC42, in a GTP-dependent manner, and with SEPT7 (By similarity)

Subcellular location: Endomembrane system; Peripheral membrane protein (By similarity). Cytoplasm, cytoskeleton (By

similarity)

Secondary accessions: B0VJZ2 Q8TB51

Explore the universe of human proteins at neXtProt for CDC42EP5: NX_Q6NZY7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6NZY7

CDC42EP5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_659494.2

ENSEMBL proteins:

ENSP00000301200

Human Recombinant Protein Products for CDC42EP5:

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	Uscn Proteins for CDC42EP5

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	11035016
GO:0005856	cytoskeleton	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0012505	endomembrane system	IEA	--
GO:0016020	membrane	IDA	11035016

CDC42EP5 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CDC42EP5

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

CDC42EP5 for domains About GeneDecksing

1 InterPro domain/family:

IPR000095 PAK_box_Rho-bd

Graphical View of Domain Structure for InterPro Entry Q6NZY7

ProtoNet protein and cluster: Q6NZY7

UniProtKB/Swiss-Prot: BORG3_HUMAN, Q6NZY7

Domain: The CRIB domain mediates interaction with CDC42 (By similarity)

Similarity: Belongs to the BORG/CEP family

Similarity: Contains 1 CRIB domain

(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: BORG3_HUMAN, Q6NZY7

Function: Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin

filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits MAPK8

independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by CDC42 (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:0005515	protein binding	--	--
GO:0017049	GTP-Rho binding	IPI	11035016

CDC42EP5 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CDC42EP5

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate CDC42EP5:
		hsa-miR-3924
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In Situ Assay
Products:

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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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Rho Family GTPases

Rho Family GTPases

1.00

Actin Nucleation by ARP-WASP Complex

RhoA Pathway

0.35

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CDC42EP5

	RhoA Pathway
	Rho Family GTPases

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CDC42EP5

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for CDC42EP5 (Q6NZY7³ ENSP00000301200⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SEPT7	Q16181³, ENSP00000381992⁴	I2D: score=1 STRING: ENSP00000381992
CDC42	P60953³, ENSP00000314458⁴	I2D: score=4 STRING: ENSP00000314458
CTNNB1	P35222³	I2D: score=1

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007254	JNK cascade	IEA	--
GO:0007266	Rho protein signal transduction	IEA	--
GO:0008360	regulation of cell shape	IDA	11035016
GO:0030838	positive regulation of actin filament polymerization	IDA	11035016
GO:0031274	positive regulation of pseudopodium assembly	IDA	11035016

CDC42EP5 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

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CDC42EP5

1 HMDB Compound for CDC42EP5 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

Search CenterWatch for drugs/clinical trials and news about CDC42EP5 / BORG3

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CDC42EP5 gene:

NM_145057.2

Unigene Cluster for CDC42EP5:

CDC42 effector protein (Rho GTPase binding) 5

Hs.415791 [show with all ESTs]

Unigene Representative Sequence: BM563708

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

ENST00000301200(uc002qfz.1) ENST00000472703

miRNA Products:		OriGene 3'-UTR Clone: CDC42EP5 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CDC42EP5
		1 QIAGEN miScript miRNA Assays for microRNA that regulate CDC42EP5:
		hsa-miR-3924
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CDC42EP5

Additional cDNA sequence:

BC024327.1 BC065910.1

7 DOTS entries:

DT.75199960 DT.102838677 DT.101978725 DT.100751429 DT.100751430 DT.121487564 DT.97860466

24/99 AceView cDNA sequences (see all 99):

BM987248 NM_145057 CK823256 BM692571 BQ187568 BQ184471 BM856631 BQ027640

BM832176 BU624563 BM825557 BC065910 BU683059 BU624573 BM832211 CK823257

BQ182206 BQ082811 BE856816 AW627995 AI918491 CB215599 BM830629 BM698492

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

CDC42EP5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACGCGGCGC

About this image

CDC42EP5 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)

Kidney

Renal Collecting Duct System

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CDC42EP5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CDC42EP5

SOURCE GeneReport for Unigene cluster: Hs.415791

SABiosciences Custom PCR Arrays for CDC42EP5

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CDC42EP5 Browse OriGene validated miRNA SYBR primer pairs
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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 human and mouse.

Orthologs for CDC42EP5 gene from 1/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cdc42ep5^{1 , 5}	CDC42 effector protein (Rho GTPase binding) 5^{1, 5}	79.28(n)¹ 80.41(a)¹		7 (2.40 cM)⁵ 58804¹ NM_021454.3¹ NP_067429.1¹ 4151260⁵

ENSEMBL Gene Tree for CDC42EP5 (if available)
TreeFam Gene Tree for CDC42EP5 (if available)

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

Paralogs for CDC42EP5 gene

CDC42EP3² CDC42EP2² CDC42EP4² CDC42EP1²

2 SIMAP similar genes for CDC42EP5 using alignment to 1 protein entry: BORG3_HUMAN:

CDC42EP4 CDC42EP1

CDC42EP5 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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs56314232^1,2	C	--	51307146(+)	`CCAGGG/AGTCAA`	1	--	int¹		2		WA	4
rs145554195^1,2		--	54976922(+)	`TCAGGC/TGATTC`	1	--	int¹		0	--	--	--	--
rs192763578^1,2		--	54977011(+)	`ACGGGG/TTTTCA`	1	--	int¹		0	--	--	--	--
rs140440467^1,2		--	54977019(+)	`TCACAA/GTGTTG`	1	--	int¹		0	--	--	--	--
rs139904166^1,2	C	--	54977111(+)	`ACCGC-/GCCCGG`	1	--	int¹		0	--	--	--	--
rs79918763^1,2	C,F	--	54977199(+)	`TAACCT/GGACTC`	1	--	int¹		1		WA	118
rs7246643^1,2	C,F,H	--	54977628(+)	`GTCTCA/TATAAA`	1	--	int¹		11		NA WA CSA EA	371
rs11336215^1,2	C,F	--	54977870(+)	`AAAAAA/-TACAG`	1	--	int¹ trp³		2		NA CSA	4
rs77753537^1,2		--	54977870(+)	`TGGGGG/AAAAAA`	1	--	int¹		1		WA	2
rs116576131^1,2	F	--	54977918(+)	`ATAACA/GATTAT`	1	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for CDC42EP5 (54976210 - 54984422 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CDC42EP5
2 CNVs: 4088 5116

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CDC42EP5

DNA2.0 Custom Variant and Variant Library Synthesis for CDC42EP5

(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

CDC42EP5 for disorders           About GeneDecksing

OMIM gene information: 609171    OMIM disorders: --

1 disease for CDC42EP5:    About MalaCards

quadriplegia

2 diseases from the University of Copenhagen DISEASES database for CDC42EP5:

Wolfram syndrome Quadriplegia

Export disorders for CDC42EP5 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 CDC42EP5 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CDC42EP5)

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

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)
Borg proteins control septin organization and are negatively regulated by Cdc42. (PubMed id 11584266)^{1, 9} Joberty G.... Macara I.G. (2001)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)² Grimwood J.... Lucas S.M. (2004)
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)
A new family of Cdc42 effector proteins, CEPs, function in fibroblast and epithelial cell shape changes. (PubMed id 11035016)¹ Hirsch D.S....Burbelo P.D. (2001)
The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins. (PubMed id 10490598)¹ Joberty G.... Macara I.G. (1999)
[Screening for lymphatic metastasis-associated genes in mouse hepatocarcinoma cell lines Hca-F and Hca-P using gene chip] (PubMed id 16004799)⁹ Song B....Hou L. (2005)

(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: 148170	HGNC: 17408	AceView: CDC42EP5	Ensembl:ENSG00000167617	euGenes: HUgn148170
ECgene: CDC42EP5	H-InvDB: CDC42EP5

(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 CDC42EP5	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CDC42EP5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CDC42EP5 gene:
Search GeneIP for patents involving CDC42EP5

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)
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CDC42EP5
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDC42EP5

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CDC42EP5

Sirion Biotech Customized:

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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 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 CDC42EP5 gene at Home site.

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CDC42EP5 Gene

CDC42 effector protein (Rho GTPase binding) 5

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CDC42EP5 Gene

CDC42 effector protein (Rho GTPase binding) 5

Aliasesfor CDC42EP5 gene

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