CDC42EP2 CDC42 effector protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDC42EP2provided by HGNC
Official Full Name: CDC42 effector protein 2provided by HGNC
Primary source: HGNC:HGNC:16263
See related: Ensembl:ENSG00000149798 MIM:606132; AllianceGenome:HGNC:16263
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: CEP2; BORG1
Summary: 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. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011]
Expression: Ubiquitous expression in fat (RPKM 13.9), gall bladder (RPKM 10.2) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65314866..65322417)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65308188..65315743)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (65082337..65089888)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

Studies indicate some of the functional and mechanistic roles of the binder of Rho GTPases Borg1-5 proteins (Cdc42EP1-5), including cytoskeletal remodelling and signalling.
Title: The Borg family of Cdc42 effector proteins Cdc42EP1-5.
CDC42EP2 is upregulated in human PDLCs subjected to tensile stress related to mechano-induced cell cycle arrest.
Title: Early proliferation alteration and differential gene expression in human periodontal ligament cells subjected to cyclic tensile stress.
activations of Rac1 and Cdc42 are involved in the hypoxia-induced production of angiogenesis-promoting factors and tumor suppressors, and suggest that the Rho family GTPases Rac1 and Cdc42 may contribute to the hypoxia-mediated angiogenesis.
Title: Role of Rac1 and Cdc42 in hypoxia induced p53 and von Hippel-Lindau suppression and HIF1alpha activation.

Submit: New GeneRIF Correction

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 identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11951 (e-PCR)
- UniSTS:37961

STS-Z39767 (e-PCR)
- UniSTS:12965

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables opioid peptide activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament organization	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to type II interferon	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of pseudopodium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of pseudopodium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell shape	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell shape	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in phagocytic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cdc42 effector protein 2

Names: CDC42 effector protein (Rho GTPase binding) 2; CRIB-containing BOGR1 protein; binder of Rho GTPases 1

NCBI Reference Sequences (RefSeq)

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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.