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

Summary

Official Symbol: CDC42SE2provided by HGNC
Official Full Name: CDC42 small effector 2provided by HGNC
Primary source: HGNC:HGNC:18547
See related: Ensembl:ENSG00000158985
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
Expression: Ubiquitous expression in lymph node (RPKM 52.2), appendix (RPKM 43.6) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 5q31.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	5	NC_000005.10 (131264053..131394672)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (130599702..130730383)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-34691 (e-PCR)
- UniSTS:65104

RH99239 (e-PCR)
- UniSTS:91483

D5S1427 (e-PCR)
- UniSTS:49761

A009U40 (e-PCR)
- UniSTS:44141

RH16185 (e-PCR)
- UniSTS:68988

RH47655 (e-PCR)
- UniSTS:82301

D5S1804E (e-PCR)
- UniSTS:153749

NoName (e-PCR)
- UniSTS:487092

WI-17021 (e-PCR)
- UniSTS:48052

A008N05 (e-PCR)
- UniSTS:37302

G32856 (e-PCR)
- UniSTS:117435

RH12501 (e-PCR)
- UniSTS:81354

SHGC-58802 (e-PCR)
- UniSTS:94448

RH46287 (e-PCR)
- UniSTS:38393

Homology

Homologs of the CDC42SE2 gene: The CDC42SE2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 315 organisms have orthologs with human gene CDC42SE2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
Rho GTPase binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
phagocytosis	IEA Inferred from Electronic Annotation more info
regulation of Rho protein signal transduction	IEA Inferred from Electronic Annotation more info
regulation of cell shape	IEA Inferred from Electronic Annotation more info
regulation of signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cell projection	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
phagocytic cup	IEA Inferred from Electronic Annotation more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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)

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

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 ...
NM_001375633.1 → NP_001362562.1 CDC42 small effector protein 2

Status: VALIDATED

Source sequence(s)

AC004777, AC008497, AC114275
NM_001375634.1 → NP_001362563.1 CDC42 small effector protein 2

Status: VALIDATED

Source sequence(s)

AC004777, AC008497
NM_001375635.1 → NP_001362564.1 CDC42 small effector protein 2

Status: VALIDATED

Source sequence(s)

AC004777, AC008497, AC114275

Related

ENSP00000427421.1, ENST00000505065.1
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

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 ...