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Aliases for CYTH2 Gene

Aliases for CYTH2 Gene

  • Cytohesin 2 2 3 5
  • 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
  • PSCD2L 3 4
  • PSCD2 3 4
  • ARNO 3 4
  • CTC-273B12.8 3
  • Protein ARNO 4
  • Cytohesin-2 3
  • Sec7p-Like 3
  • CTS18.1 3
  • Sec7p-L 3
  • CTS18 3
  • SEC7L 3

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 Neuroblastoma. Among its related pathways are Vesicle-mediated transport and Endocytosis. 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 for CYTH2 Gene

  • Acts as a guanine-nucleotide exchange factor (GEF). Promotes guanine-nucleotide exchange on ARF1, ARF3 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane. 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 , fRNAdb sequence ontologies and piRNA Summary for CYTH2 Gene

Genomics for CYTH2 Gene

GeneHancer (GH) Regulatory Elements for CYTH2 Gene

Promoters and enhancers for CYTH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I048468 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 565.6 +0.6 578 3 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B CYTH2 LOC105372430 GRWD1 NOP53-AS1 BICRA ALDH16A1 SNRNP70 PIH1D1 NOP53 RPL18
GH19I048871 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 29.3 +407.0 406983 8.8 FEZF1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MEF2D SSRP1 GC19M048876 PPP1R15A PRR12 SNRNP70 IRF3 GRWD1 SNORD35A PTOV1-AS2 SNORD35B PIH1D1
GH19I048780 Enhancer 1.5 Ensembl ENCODE dbSUPER 45.3 +312.7 312678 2.9 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B ZNF766 ZNF213 ZNF143 FOS PRR12 SNRNP70 PIH1D1 GRWD1 SNORD35A IRF3 CYTH2 SNORD35B CPT1C ALDH16A1
GH19I048953 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 18.6 +486.3 486256 2.7 PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 BAX PRR12 SNRNP70 GRWD1 PIH1D1 SNORD35A PTOV1-AS2 KDELR1 NUP62 IRF3
GH19I047715 Enhancer 0.9 Ensembl dbSUPER 37 -753.5 -753531 0.6 ZBTB21 ZNF140 ZNF266 ZNF697 ZNF664 ZNF213 ZNF138 ZNF19 ZNF202 ZNF680 ZC3H4 BICRA NOP53-AS1 GRWD1 CYTH2 NOP53 CCDC9 ENSG00000268093 KDELR1 RPL18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYTH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYTH2 gene promoter:

Genomic Locations for CYTH2 Gene

Genomic Locations for CYTH2 Gene
chr19:48,469,032-48,482,314
(GRCh38/hg38)
Size:
13,283 bases
Orientation:
Plus strand
chr19:48,972,289-48,985,571
(GRCh37/hg19)

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 GRASP, CYTH2 and at least one GRM1 (By similarity). Interacts with ARRB1. Interacts with ARL4D; the interaction is direct. 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. Interacts with FRMD4A (By similarity).

    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 posLast=7878
  • 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

Suggested Antigen Peptide Sequences for CYTH2 Gene

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. Promotes the activation of ARF factors through replacement of GDP with GTP. The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane. 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

Clone Products

  • Addgene plasmids 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 5
nucleus 2
cytoskeleton 1
mitochondrion 1
endosome 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 IDA,TAS 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

Pathways by source for CYTH2 Gene

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 --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with CYTH2: view

No data available for SIGNOR curated interactions for CYTH2 Gene

Drugs & Compounds for CYTH2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Formic acid Approved, Experimental, Investigational Pharma Target 0
1D-myo-inositol 1,4,5-trisphosphate Experimental Pharma Target 0
inositol 1,3,4,5-tetrakisphosphate Experimental Pharma Target 0
S,S-(2-Hydroxyethyl)Thiocysteine Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma 0

(6) 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

Unigene Clusters for CYTH2 Gene

Cytohesin 2:
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
CYTH2

Expression for CYTH2 Gene

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

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, PaxDb, MaxQB, and MOPED for CYTH2 Gene



Protein tissue co-expression partners for CYTH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYTH2 Gene:

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(4.8)
  • Lung(4.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with CYTH2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 33
  • 94 (n)
-- 34
  • 73 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CYTH2 33 34
  • 93.92 (n)
cow
(Bos Taurus)
Mammalia CYTH2 33 34
  • 93.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cyth2 33 16 34
  • 90.83 (n)
rat
(Rattus norvegicus)
Mammalia Cyth2 33
  • 90.17 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 91 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cyth1 33
  • 78.2 (n)
Str.2989 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10498 33
zebrafish
(Danio rerio)
Actinopterygii CYTH2 34
  • 84 (a)
OneToMany
si:dkey-283b15.4 33
  • 77.17 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7084 33
fruit fly
(Drosophila melanogaster)
Insecta step 34
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea grp-1 34
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC7 34
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
ManyToMany
CSA.8851 34
  • 60 (a)
ManyToMany
Species where no ortholog for CYTH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CYTH2 Gene

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

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

Variants for CYTH2 Gene

Sequence variations from dbSNP and Humsavar for CYTH2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000002285 -- 48,475,466(+) A/G intron_variant, non_coding_transcript_variant
rs1000448683 -- 48,474,318(+) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000557685 -- 48,480,426(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000656313 -- 48,477,991(+) C/T intron_variant
rs1000727176 -- 48,479,531(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

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 for CYTH2 Gene

Disorders for CYTH2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search CYTH2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CYTH2

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 22 58
  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 22 58
  3. Structure of the Sec7 domain of the Arf exchange factor ARNO. (PMID: 9510256) Cherfils J … Chardin P (Nature 1998) 3 4 22 58
  4. Cytohesin-2/ARNO, through its interaction with focal adhesion adaptor protein paxillin, regulates preadipocyte migration via the downstream activation of Arf6. (PMID: 20525696) Torii T … Tanoue A (The Journal of biological chemistry 2010) 2 3 58
  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 22 58

Products for CYTH2 Gene

  • Addgene plasmids for CYTH2

Sources for CYTH2 Gene

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