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

Gene ID: 10435, updated on 12-Oct-2019

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
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

Genomic context

See CDC42EP2 in Genome Data Viewer
Location:
11q13.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65314866..65322417)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65082289..65089900)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 22 member 20, pseudogene Neighboring gene DNA polymerase alpha 2, accessory subunit Neighboring gene uncharacterized LOC105369344 Neighboring gene double PHD fingers 2 Neighboring gene tigger transposable element derived 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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

Pathways from BioSystems

  • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
    MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
  • MAPK6/MAPK4 signaling, organism-specific biosystem (from REACTOME)
    MAPK6/MAPK4 signaling, organism-specific biosystemMAPK6 and MAPK4 (also known as ERK3 and ERK4) are vertebrate-specific atypical MAP kinases. Atypical MAPK are less well characterized than their conventional counterparts, and are generally classifi...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP-Rho binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP-Rho binding IPI
Inferred from Physical Interaction
more info
PubMed 
GTPase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
opioid peptide activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
actin filament organization NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to interferon-gamma IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of actin filament polymerization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein complex assembly TAS
Traceable Author Statement
more info
PubMed 
positive regulation of pseudopodium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of pseudopodium assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell shape IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell shape IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
phagocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_006779.4NP_006770.1  cdc42 effector protein 2

    See identical proteins and their annotated locations for NP_006770.1

    Status: REVIEWED

    Source sequence(s)
    AK315444, BC022337
    Consensus CDS
    CCDS8099.1
    UniProtKB/Swiss-Prot
    O14613
    Related
    ENSP00000279249.2, ENST00000279249.3
    Conserved Domains (2) summary
    pfam00786
    Location:2987
    PBD; P21-Rho-binding domain
    pfam14957
    Location:103202
    BORG_CEP; Cdc42 effector

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    65314866..65322417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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