The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity... See more...

Aliases for CYTH2 Gene

Aliases for CYTH2 Gene

  • Cytohesin 2 2 3 5
  • Cytohesin-2 2 3 4
  • ARNO 2 3 4
  • Pleckstrin Homology, Sec7 And Coiled/Coil Domains 2 (Cytohesin-2) 2 3
  • PH, SEC7 And Coiled-Coil Domain-Containing Protein 2 3 4
  • Pleckstrin Homology, Sec7 And Coiled-Coil Domains 2 2 3
  • ARF Nucleotide-Binding Site Opener 3 4
  • ARF Exchange Factor 3 4
  • Sec7p-Like 2 3
  • CTS18.1 2 3
  • Sec7p-L 2 3
  • PSCD2L 3 4
  • PSCD2 3 4
  • CTC-273B12.8 3
  • Protein ARNO 4
  • CTS18 3
  • SEC7L 3
  • CYTH2 5

External Ids for CYTH2 Gene

Previous HGNC Symbols for CYTH2 Gene

  • PSCD2L
  • PSCD2

Previous GeneCards Identifiers for CYTH2 Gene

  • GC19P053667
  • GC19P048972
  • GC19P045352

Summaries for CYTH2 Gene

Entrez Gene Summary for CYTH2 Gene

  • The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with ARF1, ARF3, and ARF6 and is 83% homologous to CYTH1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

GeneCards Summary for CYTH2 Gene

CYTH2 (Cytohesin 2) is a Protein Coding gene. Diseases associated with CYTH2 include Differentiating Neuroblastoma and Neuroblastoma. Among its related pathways are Intra-Golgi traffic and Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include lipid binding and inositol 1,4,5 trisphosphate binding. An important paralog of this gene is CYTH1.

UniProtKB/Swiss-Prot Summary for CYTH2 Gene

  • Acts as a guanine-nucleotide exchange factor (GEF). Promotes guanine-nucleotide exchange on ARF1, ARF3 and ARF6. Activates ARF factors through replacement of GDP with GTP (By similarity). The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane (PubMed:17398095). Involved in neurite growth (By similarity).

Gene Wiki entry for CYTH2 Gene

Additional gene information for CYTH2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYTH2 Gene

Genomics for CYTH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYTH2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYTH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYTH2

Top Transcription factor binding sites by QIAGEN in the CYTH2 gene promoter:
  • AREB6
  • Egr-2
  • ITF-2
  • NF-kappaB
  • NF-kappaB1
  • Pax-2
  • Pax-2a
  • PPAR-gamma1
  • PPAR-gamma2
  • Tal-1beta

Genomic Locations for CYTH2 Gene

Genomic Locations for CYTH2 Gene
chr19:48,469,208-48,482,314
(GRCh38/hg38)
Size:
13,107 bases
Orientation:
Plus strand
chr19:48,972,289-48,985,571
(GRCh37/hg19)
Size:
13,283 bases
Orientation:
Plus strand

Genomic View for CYTH2 Gene

Genes around CYTH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYTH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYTH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYTH2 Gene

Proteins for CYTH2 Gene

  • Protein details for CYTH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99418-CYH2_HUMAN
    Recommended name:
    Cytohesin-2
    Protein Accession:
    Q99418
    Secondary Accessions:
    • A8K8P0
    • Q8IXY9
    • Q92958

    Protein attributes for CYTH2 Gene

    Size:
    400 amino acids
    Molecular mass:
    46546 Da
    Quaternary structure:
    • Heteromer. Composed of TAMALIN, CYTH2 and at least one GRM1 (By similarity). Interacts with ARRB1 (PubMed:17623778, PubMed:17398095). Interacts with ARL4D; the interaction is direct (PubMed:17398095). Directly interacts with CCDC120 through the coiled coil domain; this interaction stabilizes CCDC120, possibly by preventing its ubiquitination, and is required for neurite growth in neuroblastoma cells (PubMed:25326380). Interacts with ARF1 (PubMed:14654833). Interacts with FRMD4A (By similarity). Interacts (via N-terminal domain) with INAVA (via N-terminal domain) (PubMed:29420262).

    Three dimensional structures from OCA and Proteopedia for CYTH2 Gene

    Alternative splice isoforms for CYTH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYTH2 Gene

Post-translational modifications for CYTH2 Gene

  • Ubiquitination at Lys78
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CYTH2 Gene

Domains & Families for CYTH2 Gene

Gene Families for CYTH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CYTH2 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • SEC7-like domain
ProtoNet:

Suggested Antigen Peptide Sequences for CYTH2 Gene

GenScript: Design optimal peptide antigens:
  • PH, SEC7 and coiled-coil domain-containing protein 2 (CYH2_HUMAN)
  • Sec7p-like protein (Q15795_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99418

UniProtKB/Swiss-Prot:

CYH2_HUMAN :
  • Binds via its PH domain to the inositol head group of phosphatidylinositol 1,4,5-trisphosphate. The PH domain is necessary and sufficient for plasma membrane relocalization.
Domain:
  • Binds via its PH domain to the inositol head group of phosphatidylinositol 1,4,5-trisphosphate. The PH domain is necessary and sufficient for plasma membrane relocalization.
  • Autoinhibited by its C-terminal basic region.
  • The coiled coil domain is involved in interaction with CCDC120.
genes like me logo Genes that share domains with CYTH2: view

Function for CYTH2 Gene

Molecular function for CYTH2 Gene

UniProtKB/Swiss-Prot Function:
Acts as a guanine-nucleotide exchange factor (GEF). Promotes guanine-nucleotide exchange on ARF1, ARF3 and ARF6. Activates ARF factors through replacement of GDP with GTP (By similarity). The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane (PubMed:17398095). Involved in neurite growth (By similarity).

Phenotypes From GWAS Catalog for CYTH2 Gene

Gene Ontology (GO) - Molecular Function for CYTH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005086 ARF guanyl-nucleotide exchange factor activity IEA,ISS --
GO:0005515 protein binding IPI 10198630
GO:0008289 lipid binding IEA --
GO:0070679 inositol 1,4,5 trisphosphate binding ISS --
genes like me logo Genes that share ontologies with CYTH2: view
genes like me logo Genes that share phenotypes with CYTH2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYTH2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYTH2 Gene

Localization for CYTH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYTH2 Gene

Cell membrane. Peripheral membrane protein. Cytoplasm. Cell projection. Cell projection, growth cone. Cell junction, tight junction. Cell junction, adherens junction. Note=Both isoform 1 and isoform 2 are recruited to the cell membrane through its association with ARL4A, ARL4C and ARL4D. They require also interaction with phosphoinositides for targeting to plasma membrane (PubMed:17398095). In differentiating neuroblastoma cells, colocalizes with CCDC120 in both neurite shaft and growth cone areas. {ECO:0000250 UniProtKB:P63034, ECO:0000269 PubMed:17398095}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYTH2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 4
cytoskeleton 2
nucleus 2
endosome 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYTH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IEA,IDA 17398095
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS,IDA 17398095
GO:0005912 adherens junction IEA --
genes like me logo Genes that share ontologies with CYTH2: view

Pathways & Interactions for CYTH2 Gene

genes like me logo Genes that share pathways with CYTH2: view

SIGNOR curated interactions for CYTH2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CYTH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis TAS 9417041
GO:0030036 actin cytoskeleton organization TAS 9417041
GO:0032012 regulation of ARF protein signal transduction IEA --
genes like me logo Genes that share ontologies with CYTH2: view

Drugs & Compounds for CYTH2 Gene

(8) Drugs for CYTH2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1D-myo-inositol 1,4,5-trisphosphate Experimental Pharma Target 0
Brefeldin A Experimental Pharma Target Disrupts protein translocation to Golgi 0
Formic acid Experimental, Investigational Pharma Target 0
inositol 1,3,4,5-tetrakisphosphate Experimental Pharma Target 0
S,S-(2-Hydroxyethyl)Thiocysteine Experimental Pharma Target 0

(5) Additional Compounds for CYTH2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CYTH2: view

Transcripts for CYTH2 Gene

mRNA/cDNA for CYTH2 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYTH2

Alternative Splicing Database (ASD) splice patterns (SP) for CYTH2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9a · 9b
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - -
SP6:
SP7: - -
SP8: - -

Relevant External Links for CYTH2 Gene

GeneLoc Exon Structure for
CYTH2

Expression for CYTH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYTH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for CYTH2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.1), Cervix (17.7), Serum (8.2), and Fetal heart (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYTH2 Gene



Protein tissue co-expression partners for CYTH2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYTH2

SOURCE GeneReport for Unigene cluster for CYTH2 Gene:

Hs.144011

mRNA Expression by UniProt/SwissProt for CYTH2 Gene:

Q99418-CYH2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for CYTH2 Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Kidney(2.7)
  • Intestine(2.5)
  • Muscle(2.4)
  • Skin(2.3)
  • Adrenal gland(2.2)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with CYTH2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYTH2 Gene

Orthologs for CYTH2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CYTH2 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia CYTH2 30
  • 94 (n)
-- 31
  • 73 (a)
OneToMany
Chimpanzee
(Pan troglodytes)
Mammalia CYTH2 30 31
  • 93.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYTH2 30 31
  • 93.42 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 93 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Cyth2 30 17 31
  • 90.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyth2 30
  • 90.17 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 91 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cyth1 30
  • 78.2 (n)
Str.2989 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10498 30
Zebrafish
(Danio rerio)
Actinopterygii CYTH2 31
  • 84 (a)
OneToMany
si:dkey-283b15.4 30
  • 77.17 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7084 30
Fruit Fly
(Drosophila melanogaster)
Insecta step 31
  • 34 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea grp-1 31
  • 39 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC7 31
  • 6 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
ManyToMany
CSA.8851 31
  • 60 (a)
ManyToMany
Species where no ortholog for CYTH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CYTH2 Gene

ENSEMBL:
Gene Tree for CYTH2 (if available)
TreeFam:
Gene Tree for CYTH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYTH2: view image

Paralogs for CYTH2 Gene

(11) SIMAP similar genes for CYTH2 Gene using alignment to 5 proteins:

  • CYH2_HUMAN
  • F8W8E2_HUMAN
  • G5E9B7_HUMAN
  • J3KQA6_HUMAN
  • M0R2J0_HUMAN
genes like me logo Genes that share paralogs with CYTH2: view

Variants for CYTH2 Gene

Additional dbSNP identifiers (rs#s) for CYTH2 Gene

Structural Variations from Database of Genomic Variants (DGV) for CYTH2 Gene

Variant ID Type Subtype PubMed ID
esv2658088 CNV deletion 23128226
esv3556506 CNV deletion 23714750
nsv1114021 CNV deletion 24896259
nsv518578 CNV loss 19592680
nsv828572 CNV loss 20364138
nsv9739 CNV gain+loss 18304495

Variation tolerance for CYTH2 Gene

Residual Variation Intolerance Score: 7.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYTH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYTH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYTH2 Gene

Disorders for CYTH2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CYTH2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
differentiating neuroblastoma
neuroblastoma
  • nb
- elite association - COSMIC cancer census association via MalaCards
Search CYTH2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CYTH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYTH2 Gene

Publications for CYTH2 Gene

  1. A human exchange factor for ARF contains Sec7- and pleckstrin-homology domains. (PMID: 8945478) Chardin P … Chabre M (Nature 1996) 2 3 4 23
  2. The Arl4 family of small G proteins can recruit the cytohesin Arf6 exchange factors to the plasma membrane. (PMID: 17398095) Hofmann I … Munro S (Current biology : CB 2007) 3 4 23
  3. Structure of the Sec7 domain of the Arf exchange factor ARNO. (PMID: 9510256) Cherfils J … Chardin P (Nature 1998) 3 4 23
  4. C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions. (PMID: 29420262) Mohanan V … Xavier RJ (Science (New York, N.Y.) 2018) 3 4
  5. GRASP and IPCEF promote ARF-to-Rac signaling and cell migration by coordinating the association of ARNO/cytohesin 2 with Dock180. (PMID: 20016009) White DT … Santy LC (Molecular biology of the cell 2010) 3 23

Products for CYTH2 Gene

Sources for CYTH2 Gene