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Aliases for CDC42SE2 Gene

Aliases for CDC42SE2 Gene

  • CDC42 Small Effector 2 2 3 5
  • Small Effector Of CDC42 Protein 2 3 4
  • SPEC2 3 4
  • Non-Kinase Cdc42 Effector Protein SPEC2 3
  • CDC42 Small Effector Protein 2 3

External Ids for CDC42SE2 Gene

Previous GeneCards Identifiers for CDC42SE2 Gene

  • GC00U916970
  • GC05P130627
  • GC05P125790
  • GC05P130581

Summaries for CDC42SE2 Gene

GeneCards Summary for CDC42SE2 Gene

CDC42SE2 (CDC42 Small Effector 2) is a Protein Coding gene. Diseases associated with CDC42SE2 include Schizophrenia. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is CDC42SE1.

UniProtKB/Swiss-Prot for CDC42SE2 Gene

  • Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages.

Additional gene information for CDC42SE2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDC42SE2 Gene

Genomics for CDC42SE2 Gene

GeneHancer (GH) Regulatory Elements for CDC42SE2 Gene

Promoters and enhancers for CDC42SE2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J131262 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.4 +19.8 19804 6 HDGF SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 ZNF207 ZNF143 CDC42SE2 MEIKIN LYRM7 HINT1 ENSG00000279370 GC05P131301
GH05J131208 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.3 -34.4 -34429 5.2 HDGF PKNOX1 SMAD1 RB1 BMI1 BATF KLF5 ZNF207 ZNF143 ATF7 CDC42SE2 LYRM7 HINT1 RAPGEF6 GC05P131204
GH05J131244 Enhancer 0.2 dbSUPER 650.7 -0.5 -479 0.6 CDC42SE2 GC05P131204
GH05J131373 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +133.2 133238 12.8 HDGF PKNOX1 FOXA2 ARNT ARID4B IRF4 ZNF766 ZNF207 ZNF143 FOS MEIKIN HINT1 LYRM7 CDC42SE2 P4HA2 FNIP1 RAPGEF6 ACSL6 GC05P131366 LOC105379173
GH05J131640 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 13 +395.1 395144 1.1 HDAC1 PKNOX1 TCF12 E2F8 CEBPB NFIC KLF16 SMARCA4 HMBOX1 ZBTB33 CDC42SE2 FNIP1 RAPGEF6 HINT1 GC05P131648 ENSG00000273217
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDC42SE2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDC42SE2 gene promoter:
  • c-Ets-1
  • AREB6
  • TBP
  • Evi-1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4

Genomic Locations for CDC42SE2 Gene

Genomic Locations for CDC42SE2 Gene
chr5:131,245,493-131,398,447
(GRCh38/hg38)
Size:
152,955 bases
Orientation:
Plus strand
chr5:130,581,186-130,734,140
(GRCh37/hg19)
Size:
152,955 bases
Orientation:
Plus strand

Genomic View for CDC42SE2 Gene

Genes around CDC42SE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC42SE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC42SE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC42SE2 Gene

Proteins for CDC42SE2 Gene

  • Protein details for CDC42SE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRR3-C42S2_HUMAN
    Recommended name:
    CDC42 small effector protein 2
    Protein Accession:
    Q9NRR3
    Secondary Accessions:
    • B2R622
    • Q4KMT9

    Protein attributes for CDC42SE2 Gene

    Size:
    84 amino acids
    Molecular mass:
    9223 Da
    Quaternary structure:
    • Interacts with CDC42 (in GTP-bound form). Interacts weakly with RAC1 and not at all with RHOA.
    Miscellaneous:
    • CDC42SE2 is mapped in the genomic region associated with schizophrenia.

neXtProt entry for CDC42SE2 Gene

Post-translational modifications for CDC42SE2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDC42SE2 Gene

No data available for DME Specific Peptides for CDC42SE2 Gene

Domains & Families for CDC42SE2 Gene

Gene Families for CDC42SE2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CDC42SE2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDC42SE2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NRR3

UniProtKB/Swiss-Prot:

C42S2_HUMAN :
  • The CRIB domain mediates interaction with CDC42.
  • Belongs to the CDC42SE/SPEC family.
Domain:
  • The CRIB domain mediates interaction with CDC42.
Family:
  • Belongs to the CDC42SE/SPEC family.
genes like me logo Genes that share domains with CDC42SE2: view

Function for CDC42SE2 Gene

Molecular function for CDC42SE2 Gene

UniProtKB/Swiss-Prot Function:
Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages.

Phenotypes From GWAS Catalog for CDC42SE2 Gene

Gene Ontology (GO) - Molecular Function for CDC42SE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IDA 10816584
GO:0005515 protein binding IPI 10816584
genes like me logo Genes that share ontologies with CDC42SE2: view
genes like me logo Genes that share phenotypes with CDC42SE2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CDC42SE2 Gene

Localization for CDC42SE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC42SE2 Gene

Cytoplasm, cytoskeleton. Cell membrane; Lipid-anchor. Cell projection, phagocytic cup. Note=Recruited to the activated TCR prior actin polymerization. Localizes at the phagocytic cup of macrophages.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDC42SE2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for CDC42SE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001891 phagocytic cup IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA,IDA 10816584
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CDC42SE2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CDC42SE2 Gene

Pathways & Interactions for CDC42SE2 Gene

SuperPathways for CDC42SE2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CDC42SE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006909 phagocytosis IEA --
GO:0008360 regulation of cell shape IEA --
GO:0009966 regulation of signal transduction IDA 10816584
genes like me logo Genes that share ontologies with CDC42SE2: view

No data available for Pathways by source and SIGNOR curated interactions for CDC42SE2 Gene

Drugs & Compounds for CDC42SE2 Gene

(1) Drugs for CDC42SE2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with CDC42SE2: view

Transcripts for CDC42SE2 Gene

mRNA/cDNA for CDC42SE2 Gene

Unigene Clusters for CDC42SE2 Gene

CDC42 small effector 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDC42SE2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7
SP1: -
SP2: - -
SP3: -
SP4: - -

Relevant External Links for CDC42SE2 Gene

GeneLoc Exon Structure for
CDC42SE2
ECgene alternative splicing isoforms for
CDC42SE2

Expression for CDC42SE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDC42SE2 Gene

Protein differential expression in normal tissues from HIPED for CDC42SE2 Gene

This gene is overexpressed in Breast (28.3) and Frontal cortex (21.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC42SE2 Gene



Protein tissue co-expression partners for CDC42SE2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CDC42SE2 Gene:

CDC42SE2

SOURCE GeneReport for Unigene cluster for CDC42SE2 Gene:

Hs.508829

mRNA Expression by UniProt/SwissProt for CDC42SE2 Gene:

Q9NRR3-C42S2_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in T-lymphocytes. Highly expressed in CCRF-CEM T-lymphocytes, Jurkat T-lymphocytes, and Raji B-lymphocytes compared (at protein level).

Evidence on tissue expression from TISSUES for CDC42SE2 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with CDC42SE2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC42SE2 Gene

Orthologs for CDC42SE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CDC42SE2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDC42SE2 34 33
  • 100 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CDC42SE2 34
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdc42se2 16 34 33
  • 90.87 (n)
dog
(Canis familiaris)
Mammalia CDC42SE2 34 33
  • 90.48 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdc42se2 33
  • 89.29 (n)
cow
(Bos Taurus)
Mammalia CDC42SE2 34 33
  • 88.49 (n)
OneToOne
chicken
(Gallus gallus)
Aves CDC42SE2 34 33
  • 88.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDC42SE2 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdc42se2 33
  • 86.51 (n)
Str.1828 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16447 33
zebrafish
(Danio rerio)
Actinopterygii CDC42SE2 34
  • 91 (a)
OneToOne
zgc:172116 33
  • 80.95 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.398 33
fruit fly
(Drosophila melanogaster)
Insecta Spec2 34
  • 46 (a)
OneToMany
Species where no ortholog for CDC42SE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDC42SE2 Gene

ENSEMBL:
Gene Tree for CDC42SE2 (if available)
TreeFam:
Gene Tree for CDC42SE2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC42SE2: view image

Paralogs for CDC42SE2 Gene

Paralogs for CDC42SE2 Gene

(1) SIMAP similar genes for CDC42SE2 Gene using alignment to 3 proteins:

  • C42S2_HUMAN
  • D6REL0_HUMAN
  • H0Y9W5_HUMAN
genes like me logo Genes that share paralogs with CDC42SE2: view

Variants for CDC42SE2 Gene

Sequence variations from dbSNP and Humsavar for CDC42SE2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000013971 -- 131,386,949(+) A/G intron_variant
rs1000028545 -- 131,281,100(+) G/T intron_variant
rs1000073234 -- 131,370,157(+) T/C intron_variant
rs1000073633 -- 131,298,709(+) C/T intron_variant
rs1000077267 -- 131,324,079(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CDC42SE2 Gene

Variant ID Type Subtype PubMed ID
esv1652370 CNV deletion 17803354
esv2445763 CNV insertion 19546169
esv2458941 CNV deletion 19546169
esv3575881 CNV gain 25503493
esv3606791 CNV loss 21293372
nsv524005 CNV loss 19592680
nsv528481 CNV loss 19592680
nsv950390 CNV duplication 24416366
nsv968242 CNV duplication 23825009

Variation tolerance for CDC42SE2 Gene

Residual Variation Intolerance Score: 55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.06; 1.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC42SE2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC42SE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC42SE2 Gene

Disorders for CDC42SE2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CDC42SE2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CDC42SE2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CDC42SE2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDC42SE2 Gene

Publications for CDC42SE2 Gene

  1. Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia. (PMID: 17030554) Chen X … Kendler KS (Human molecular genetics 2006) 3 4 44 58
  2. The role of SPECs, small Cdc42-binding proteins, in F-actin accumulation at the immunological synapse. (PMID: 15840583) Ching KH … Burbelo PD (The Journal of biological chemistry 2005) 3 4 22 58
  3. SPECs, small binding proteins for Cdc42. (PMID: 10816584) Pirone DM … Burbelo PD (The Journal of biological chemistry 2000) 2 3 4 58
  4. Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. (PMID: 18804346) Edwards TL … Chen X (Schizophrenia research 2008) 3 44 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CDC42SE2 Gene

Sources for CDC42SE2 Gene

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