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    CDC42SE2 CDC42 small effector 2 [ Homo sapiens (human) ]

    Gene ID: 56990, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CDC42SE2provided by HGNC
    Official Full Name
    CDC42 small effector 2provided by HGNC
    Primary source
    HGNC:HGNC:18547
    See related
    Ensembl:ENSG00000158985 MIM:619457; AllianceGenome:HGNC:18547
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPEC2
    Summary
    Enables signaling adaptor activity. Involved in regulation of signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lymph node (RPKM 52.2), appendix (RPKM 43.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q31.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (131210052..131394672)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (131728731..131914233)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (130599746..130730365)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr5:130499678-130500338 and GRCh37_chr5:130500339-130500998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16303 Neighboring gene uncharacterized LOC124901061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23042 Neighboring gene histidine triad nucleotide binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23044 Neighboring gene LYR motif containing 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16306 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:130600208-130601025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130647474-130648282 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:130672926-130674125 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:130689616-130689914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130696972-130697526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130697527-130698081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23052 Neighboring gene uncharacterized LOC105379173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23054 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:130744412-130744593 Neighboring gene Rap guanine nucleotide exchange factor 6 Neighboring gene Sharpr-MPRA regulatory region 5338 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:130970112-130970694 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:130970824-130972023 Neighboring gene folliculin interacting protein 1 Neighboring gene ACTB pseudogene 4

    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
    • 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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    Related articles in PubMed

    1. Regulation of Cdc42 expression and signaling is critical for promoting corneal epithelial wound healing. Pothula S, et al. Invest Ophthalmol Vis Sci, 2013 Aug 9. PMID 23833064, Free PMC Article
    2. The role of SPECs, small Cdc42-binding proteins, in F-actin accumulation at the immunological synapse. Ching KH, et al. J Biol Chem, 2005 Jun 24. PMID 15840583
    3. Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia. Chen X, et al. Hum Mol Genet, 2006 Nov 15. PMID 17030554
    4. SPECs, small binding proteins for Cdc42. Pirone DM, et al. J Biol Chem, 2000 Jul 28. PMID 10816584
    5. Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. Edwards TL, et al. Schizophr Res, 2008 Dec. PMID 18804346, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cdc42 is an important regulator of corneal epithelial wound repair. To promote healing, Cdc42 may interact with receptor tyrosine kinase-activated signaling cascades that participate in cell migration and cell-cycle progression.
      Title: Regulation of Cdc42 expression and signaling is critical for promoting corneal epithelial wound healing.
    2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia.
    4. haplotypes underlying the SPEC2/PDZ-GEF2/acyl-CoA synthetase long-chain family member 6 region are associated with schizophrenia
      Title: Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia.
    5. Recruitment of SPEC2 within Jurkat T cells to the antigen-presenting cell interface occurred following incubation with staphylococcal enterotoxin E superantigen-loaded B cells and colocalized there with F-actin and Cdc42. T cell receptor
      Title: The role of SPECs, small Cdc42-binding proteins, in F-actin accumulation at the immunological synapse.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21967

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in phagocytic cup 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 small effector protein 2
    Names
    non-kinase Cdc42 effector protein SPEC2
    small effector of CDC42 protein 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_001038702.2 → NP_001033791.1  CDC42 small effector protein 2

      See identical proteins and their annotated locations for NP_001033791.1

      Status: VALIDATED

      Source sequence(s)
      AC004777, AC008497
      Consensus CDS
      CCDS34224.1
      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
      Related
      ENSP00000378667.1, ENST00000395246.5
      Conserved Domains (1) summary
      cd00132
      Location:27 → 67
      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_001375633.1 → NP_001362562.1  CDC42 small effector protein 2

      Status: VALIDATED

      Source sequence(s)
      AC004777, AC008497, AC114275
      Consensus CDS
      CCDS34224.1
      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
      Conserved Domains (1) summary
      cd00132
      Location:27 → 67
      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_001375634.1 → NP_001362563.1  CDC42 small effector protein 2

      Status: VALIDATED

      Source sequence(s)
      AC004777, AC008497
      Consensus CDS
      CCDS34224.1
      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
      Conserved Domains (1) summary
      cd00132
      Location:27 → 67
      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_001375635.1 → NP_001362564.1  CDC42 small effector protein 2

      Status: VALIDATED

      Source sequence(s)
      AC004777, AC008497, AC114275
      Consensus CDS
      CCDS34224.1
      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
      Related
      ENSP00000427421.1, ENST00000505065.2
      Conserved Domains (1) summary
      cd00132
      Location:27 → 67
      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_020240.3 → NP_064625.1  CDC42 small effector protein 2

      See identical proteins and their annotated locations for NP_064625.1

      Status: VALIDATED

      Source sequence(s)
      AC004777, AC008497, AC114275
      Consensus CDS
      CCDS34224.1
      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
      Related
      ENSP00000353706.3, ENST00000360515.7
      Conserved Domains (1) summary
      cd00132
      Location:27 → 67
      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

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      131210052..131394672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417396.1 → XP_047273352.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3

    2. XM_047417393.1 → XP_047273349.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3

    3. XM_047417394.1 → XP_047273350.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3

    4. XM_047417392.1 → XP_047273348.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3

    5. XM_047417397.1 → XP_047273353.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3

    6. XM_047417398.1 → XP_047273354.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      131728731..131914233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352943.1 → XP_054208918.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3

    2. XM_054352942.1 → XP_054208917.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3

    3. XM_054352944.1 → XP_054208919.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3

    4. XM_054352945.1 → XP_054208920.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRR3.1 GenPept UniProtKB/Swiss-Prot:Q9NRR3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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