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

    Gene ID: 56990, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 52.2), appendix (RPKM 43.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CDC42SE2 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (131210052..131394672)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (131728731..131914233)
    RS_2024_09 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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    CDC42 small effector protein 2
    Names
    non-kinase Cdc42 effector protein SPEC2
    small effector of CDC42 protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001038702.2NP_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:2767
      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_001375633.1NP_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:2767
      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_001375634.1NP_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:2767
      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_001375635.1NP_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:2767
      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_020240.3NP_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:2767
      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_000005.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
    2. XM_047417393.1XP_047273349.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
    3. XM_047417394.1XP_047273350.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
    4. XM_047417392.1XP_047273348.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
    5. XM_047417397.1XP_047273353.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
    6. XM_047417398.1XP_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_054352943.1XP_054208918.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
    2. XM_054352942.1XP_054208917.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
    3. XM_054352944.1XP_054208919.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3
    4. XM_054352945.1XP_054208920.1  CDC42 small effector protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B2R622, Q4KMT9, Q9NRR3