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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
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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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