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

Gene ID: 56990, updated on 17-Sep-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, 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

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 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)

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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_001038702.2NP_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