This gene encodes a member of the PSCD family of proteins, which have 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 as... See more...

Aliases for CYTH4 Gene

Aliases for CYTH4 Gene

  • Cytohesin 4 2 3 5
  • Cytohesin-4 2 3 4
  • CYT4 2 3 4
  • PH, SEC7 And Coiled-Coil Domain-Containing Protein 4 3 4
  • Pleckstrin Homology, Sec7 And Coiled/Coil Domains 4 2 3
  • PSCD4 3 4
  • Pleckstrin Homology, Sec7 And Coiled-Coil Domains 4 2
  • DJ63G5.1 3
  • CYTH4 5

External Ids for CYTH4 Gene

Previous HGNC Symbols for CYTH4 Gene

  • PSCD4

Previous GeneCards Identifiers for CYTH4 Gene

  • GC22P036008
  • GC22P037681
  • GC22P020643

Summaries for CYTH4 Gene

Entrez Gene Summary for CYTH4 Gene

  • This gene encodes a member of the PSCD family of proteins, which have 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 function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for CYTH4 Gene

CYTH4 (Cytohesin 4) is a Protein Coding gene. Diseases associated with CYTH4 include Septooptic Dysplasia. 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 ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is CYTH3.

UniProtKB/Swiss-Prot Summary for CYTH4 Gene

  • Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF factors through replacement of GDP with GTP.

Gene Wiki entry for CYTH4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYTH4 Gene

Genomics for CYTH4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYTH4 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 CYTH4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYTH4

Top Transcription factor binding sites by QIAGEN in the CYTH4 gene promoter:
  • E47
  • GR
  • GR-alpha
  • HEN1
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3
  • YY1

Genomic Locations for CYTH4 Gene

Genomic Locations for CYTH4 Gene
chr22:37,282,027-37,315,341
(GRCh38/hg38)
Size:
33,315 bases
Orientation:
Plus strand
chr22:37,678,068-37,711,389
(GRCh37/hg19)
Size:
33,322 bases
Orientation:
Plus strand

Genomic View for CYTH4 Gene

Genes around CYTH4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYTH4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYTH4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYTH4 Gene

Proteins for CYTH4 Gene

  • Protein details for CYTH4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIA0-CYH4_HUMAN
    Recommended name:
    Cytohesin-4
    Protein Accession:
    Q9UIA0
    Secondary Accessions:
    • Q5R3F9
    • Q9UGT6

    Protein attributes for CYTH4 Gene

    Size:
    394 amino acids
    Molecular mass:
    45672 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CYTH4 Gene

Post-translational modifications for CYTH4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYTH4 Gene

No data available for DME Specific Peptides for CYTH4 Gene

Domains & Families for CYTH4 Gene

Gene Families for CYTH4 Gene

Protein Domains for CYTH4 Gene

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

Suggested Antigen Peptide Sequences for CYTH4 Gene

GenScript: Design optimal peptide antigens:
  • Cytohesin 4 (B1AHH7_HUMAN)
  • Cytohesin 4 (B1AHH8_HUMAN)
  • Cytohesin 4 (B1AHI0_HUMAN)
  • Cytohesin 4 (B1AHI1_HUMAN)
  • PH, SEC7 and coiled-coil domain-containing protein 4 (CYH4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UIA0

UniProtKB/Swiss-Prot:

CYH4_HUMAN :
  • Binds via its PH domain to the inositol head group of phosphatidylinositol 3,4,5-trisphosphate.
Domain:
  • Binds via its PH domain to the inositol head group of phosphatidylinositol 3,4,5-trisphosphate.
  • Autoinhibited by its C-terminal basic region.
genes like me logo Genes that share domains with CYTH4: view

Function for CYTH4 Gene

Molecular function for CYTH4 Gene

UniProtKB/Swiss-Prot Function:
Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF factors through replacement of GDP with GTP.

Phenotypes From GWAS Catalog for CYTH4 Gene

Gene Ontology (GO) - Molecular Function for CYTH4 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,IDA 10652308
GO:0005515 protein binding IPI 31515488
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with CYTH4: view
genes like me logo Genes that share phenotypes with CYTH4: view

Animal Model Products

CRISPR Products

miRNA for CYTH4 Gene

miRTarBase miRNAs that target CYTH4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYTH4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYTH4 Gene

Localization for CYTH4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYTH4 Gene

Cell membrane. Peripheral membrane protein.

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 CYTH4 gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 4
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CYTH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,IDA 17398095
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CYTH4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYTH4 Gene

Pathways & Interactions for CYTH4 Gene

genes like me logo Genes that share pathways with CYTH4: view

Gene Ontology (GO) - Biological Process for CYTH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032012 regulation of ARF protein signal transduction IEA --
genes like me logo Genes that share ontologies with CYTH4: view

No data available for SIGNOR curated interactions for CYTH4 Gene

Drugs & Compounds for CYTH4 Gene

(1) Drugs for CYTH4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with CYTH4: view

Transcripts for CYTH4 Gene

mRNA/cDNA for CYTH4 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 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 CYTH4

Alternative Splicing Database (ASD) splice patterns (SP) for CYTH4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - - - - - - -
SP6: -
SP7: -
SP8:
SP9: -

ExUns: 15a · 15b ^ 16a · 16b · 16c
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CYTH4 Gene

GeneLoc Exon Structure for
CYTH4

Expression for CYTH4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYTH4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYTH4 Gene

This gene is overexpressed in Whole Blood (x32.9) and Spleen (x4.2).

Protein differential expression in normal tissues from HIPED for CYTH4 Gene

This gene is overexpressed in CD8 Tcells (17.3), Pancreas (9.9), Blymphocyte (9.2), Peripheral blood mononuclear cells (7.9), Monocytes (6.7), Spleen (6.3), and NK cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYTH4 Gene



Protein tissue co-expression partners for CYTH4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYTH4

SOURCE GeneReport for Unigene cluster for CYTH4 Gene:

Hs.170944

mRNA Expression by UniProt/SwissProt for CYTH4 Gene:

Q9UIA0-CYH4_HUMAN
Tissue specificity: Expressed predominantly in peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for CYTH4 Gene

  • Blood(4.6)
  • Nervous system(4.4)
  • Liver(4.1)
  • Adrenal gland(2.6)
  • Intestine(2)
genes like me logo Genes that share expression patterns with CYTH4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CYTH4 Gene

Orthologs for CYTH4 Gene

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

Orthologs for CYTH4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CYTH4 30 31
  • 99.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYTH4 30 31
  • 89.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CYTH4 30 31
  • 89.51 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 88 (a)
OneToMany
-- 31
  • 78 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Cyth4 30
  • 86.82 (n)
Mouse
(Mus musculus)
Mammalia Cyth4 30 17 31
  • 86.68 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CYTH4 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CYTH4 30 31
  • 74.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CYTH4 31
  • 71 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii cyth4b 30 31
  • 69.78 (n)
OneToMany
cyth4a 31
  • 62 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta step 31
  • 32 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea grp-1 31
  • 36 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC7 31
  • 6 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8851 31
  • 58 (a)
ManyToMany
-- 31
  • 55 (a)
ManyToMany
Species where no ortholog for CYTH4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for CYTH4 Gene

ENSEMBL:
Gene Tree for CYTH4 (if available)
TreeFam:
Gene Tree for CYTH4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYTH4: view image

Paralogs for CYTH4 Gene

(8) SIMAP similar genes for CYTH4 Gene using alignment to 7 proteins:

  • CYH4_HUMAN
  • B1AHH4_HUMAN
  • B1AHH5_HUMAN
  • B1AHH6_HUMAN
  • H0Y724_HUMAN
  • L8E9K5_HUMAN
  • Q8WWE8_HUMAN
genes like me logo Genes that share paralogs with CYTH4: view

Variants for CYTH4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYTH4 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
734144 Benign: not provided 37,297,591(+) C/T SYNONYMOUS_VARIANT
734145 Benign: not provided 37,297,648(+) A/C MISSENSE_VARIANT
781618 Benign: not provided 37,296,051(+) A/G MISSENSE_VARIANT
rs16998061 - p.Met74Val

Additional dbSNP identifiers (rs#s) for CYTH4 Gene

Structural Variations from Database of Genomic Variants (DGV) for CYTH4 Gene

Variant ID Type Subtype PubMed ID
esv3412646 CNV insertion 20981092
nsv1118077 CNV deletion 24896259
nsv471196 CNV loss 18288195
nsv817992 CNV gain 17921354
nsv829203 CNV loss 20364138
nsv834188 CNV loss 17160897
nsv834189 CNV gain+loss 17160897
nsv834190 CNV loss 17160897

Variation tolerance for CYTH4 Gene

Residual Variation Intolerance Score: 16.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.47; 54.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYTH4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYTH4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYTH4 Gene

Disorders for CYTH4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CYTH4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
septooptic dysplasia
  • de morsier syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CYTH4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CYTH4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CYTH4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYTH4 Gene

Publications for CYTH4 Gene

  1. 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
  2. Similarities in function and gene structure of cytohesin-4 and cytohesin-1, guanine nucleotide-exchange proteins for ADP-ribosylation factors. (PMID: 10652308) Ogasawara M … Vaughan M (The Journal of biological chemistry 2000) 3 4 23
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for CYTH4 Gene

Sources for CYTH4 Gene