CDC42EP3 CDC42 effector protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDC42EP3provided by HGNC
Official Full Name: CDC42 effector protein 3provided by HGNC
Primary source: HGNC:HGNC:16943
See related: Ensembl:ENSG00000163171 MIM:606133; AllianceGenome:HGNC:16943
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: UB1; CEP3; BORG2
Summary: This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Expression: Broad expression in prostate (RPKM 28.7), endometrium (RPKM 27.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p22.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (37641944..37672949, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (37648900..37679907, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (37869087..37900092, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CDC42EP3 promotes glioma progression via regulation of CCND1.
Title: CDC42EP3 promotes glioma progression via regulation of CCND1.
Deduction of CDC42EP3 suppress development and progression of osteosarcoma.
Title: Deduction of CDC42EP3 suppress development and progression of osteosarcoma.
CDC42EP3 is a key promoter involved in the development and progression of gastric cancer.
Title: CDC42EP3 is a key promoter involved in the development and progression of gastric cancer.
Overactivated Cdc42 acts through Cdc42EP3/Borg2 and NCK to trigger DNA damage response signaling and sensitize cells to DNA-damaging agents.
Title: Overactivated Cdc42 acts through Cdc42EP3/Borg2 and NCK to trigger DNA damage response signaling and sensitize cells to DNA-damaging agents.
Results provide evidence that Cdc42EP3 function in cancer-associated fibroblasts relies on tight regulation by Cdc42.
Title: Cdc42 regulates Cdc42EP3 function in cancer-associated fibroblasts.
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.
The expression of CDC42EP3 mRNA was significantly increased by 19.7% in dorsal prefrontal cortex in patient with schizophrenia.
Title: Altered cortical CDC42 signaling pathways in schizophrenia: implications for dendritic spine deficits.

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 with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of CDC42 effector protein 3 (CDC42EP3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH16633 (e-PCR)
- UniSTS:18234

D2S1501E (e-PCR)
- UniSTS:150344

RH12830 (e-PCR)
- UniSTS:63640

WI-13652 (e-PCR)
- UniSTS:72604

CDC42EP3_4534 (e-PCR)
- UniSTS:462797

D2S1680E (e-PCR)
- UniSTS:47857

RH67826 (e-PCR)
- UniSTS:11002

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytoskeletal regulatory protein binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of pseudopodium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell shape	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endomembrane system	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

General protein information

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Preferred Names: cdc42 effector protein 3

Names: CDC42 effector protein (Rho GTPase binding) 3; CRIB-containing BORG2 protein; MSE55-related Cdc42-binding protein; MSE55-related protein; binder of Rho GTPases 2

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.

mRNA and Protein(s)

NM_001270436.2 → NP_001257365.1 cdc42 effector protein 3

See identical proteins and their annotated locations for NP_001257365.1

Status: REVIEWED

Source sequence(s)

AC006369

Consensus CDS

CCDS1791.1

UniProtKB/Swiss-Prot

B2R8S0, O95353, Q9UKI2, Q9UQJ0

UniProtKB/TrEMBL

B3KY59

Related

ENSP00000480549.1, ENST00000611976.1

Conserved Domains (2) summary

pfam14957
Location:102 → 253

BORG_CEP; Cdc42 effector

cl00113
Location:30 → 86

CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
NM_001270437.2 → NP_001257366.1 cdc42 effector protein 3

See identical proteins and their annotated locations for NP_001257366.1

Status: REVIEWED

Source sequence(s)

AC006369

Consensus CDS

CCDS1791.1

UniProtKB/Swiss-Prot

B2R8S0, O95353, Q9UKI2, Q9UQJ0

UniProtKB/TrEMBL

B3KY59

Conserved Domains (2) summary

pfam14957
Location:102 → 253

BORG_CEP; Cdc42 effector

cl00113
Location:30 → 86

CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
NM_001270438.2 → NP_001257367.1 cdc42 effector protein 3

See identical proteins and their annotated locations for NP_001257367.1

Status: REVIEWED

Source sequence(s)

AC006369

Consensus CDS

CCDS1791.1

UniProtKB/Swiss-Prot

B2R8S0, O95353, Q9UKI2, Q9UQJ0

UniProtKB/TrEMBL

B3KY59

Related

ENSP00000403298.1, ENST00000457889.1

Conserved Domains (2) summary

pfam14957
Location:102 → 253

BORG_CEP; Cdc42 effector

cl00113
Location:30 → 86

CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
NM_001371569.1 → NP_001358498.1 cdc42 effector protein 3

Status: REVIEWED

Source sequence(s)

AC006369

Consensus CDS

CCDS1791.1

UniProtKB/Swiss-Prot

B2R8S0, O95353, Q9UKI2, Q9UQJ0

UniProtKB/TrEMBL

B3KY59

Conserved Domains (2) summary

pfam14957
Location:102 → 253

BORG_CEP; Cdc42 effector

cl00113
Location:30 → 86

CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
NM_001371570.1 → NP_001358499.1 cdc42 effector protein 3

Status: REVIEWED

Source sequence(s)

AC006369

Consensus CDS

CCDS1791.1

UniProtKB/Swiss-Prot

B2R8S0, O95353, Q9UKI2, Q9UQJ0

UniProtKB/TrEMBL

B3KY59

Conserved Domains (2) summary

pfam14957
Location:102 → 253

BORG_CEP; Cdc42 effector

cl00113
Location:30 → 86

CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
NM_006449.5 → NP_006440.2 cdc42 effector protein 3

See identical proteins and their annotated locations for NP_006440.2

Status: REVIEWED

Source sequence(s)

AC006369

Consensus CDS

CCDS1791.1

UniProtKB/Swiss-Prot

B2R8S0, O95353, Q9UKI2, Q9UQJ0

UniProtKB/TrEMBL

B3KY59

Related

ENSP00000295324.3, ENST00000295324.4

Conserved Domains (2) summary

pfam14957
Location:102 → 253

BORG_CEP; Cdc42 effector

cl00113
Location:30 → 86

CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

37641944..37672949 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532482.4 → XP_011530784.1 cdc42 effector protein 3 isoform X1

See identical proteins and their annotated locations for XP_011530784.1

UniProtKB/Swiss-Prot

B2R8S0, O95353, Q9UKI2, Q9UQJ0

UniProtKB/TrEMBL

B3KY59

Conserved Domains (2) summary

pfam14957
Location:102 → 253

BORG_CEP; Cdc42 effector

cl00113
Location:30 → 86

CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...