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

Gene ID: 10602, updated on 3-Nov-2024

Summary

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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
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Genomic context

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See CDC42EP3 in Genome Data Viewer
Location:
2p22.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (37641944..37672949, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (37648900..37679907, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (37869087..37900092, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15585 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1475 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15587 Neighboring gene long intergenic non-protein coding RNA 3063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15589 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15590 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:37856078-37857277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15599 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:37884115-37884620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11363 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11364 Neighboring gene uncharacterized LOC107985870 Neighboring gene uncharacterized LOC105374465

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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?
  1. CDC42EP3 promotes glioma progression via regulation of CCND1.
    Title: CDC42EP3 promotes glioma progression via regulation of CCND1.
  2. Deduction of CDC42EP3 suppress development and progression of osteosarcoma.
    Title: Deduction of CDC42EP3 suppress development and progression of osteosarcoma.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ31353, FLJ46903

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)

  1. 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 ...

  2. 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 ...

  3. 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 ...

  4. 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 ...

  5. 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 ...

  6. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    37641944..37672949 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    37648900..37679907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340200.1 → XP_054196175.1  cdc42 effector protein 3 isoform X1

    UniProtKB/Swiss-Prot
    B2R8S0, O95353, Q9UKI2, Q9UQJ0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKI2.1 GenPept UniProtKB/Swiss-Prot:Q9UKI2

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