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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CYTH4
cytohesin 4
Chromosome 22 · 22q13.1
NCBI Gene: 27128Ensembl: ENSG00000100055.22HGNC: HGNC:9505UniProt: B4E2V8
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityprotein bindingplasma membranevesicle-mediated transportBenign Thyroid Gland Neoplasmacute myeloid leukemiatemporomandibular joint disorderuterine fibroid
✦AI Summary

CYTH4 (cytohesin 4) is a guanine-nucleotide exchange factor that promotes activation of ADP-ribosylation factors (ARF1 and ARF5) through GDP-to-GTP exchange, facilitating protein trafficking and membrane dynamics 1. The gene localizes to the cytosol, Golgi membrane, and plasma membrane, regulating vesicle-mediated transport and ARF protein signaling 2. CYTH4 exhibits multiple disease associations. A primate-specific GTTT-repeat in its core promoter demonstrates protective effects against neurodegeneration; shorter alleles (GTTT)6 are significantly associated with multiple sclerosis, Alzheimer's disease, and bipolar disorder, while longer alleles confer neuroprotection 3. CYTH4 is identified as a loneliness-associated switch gene overlapping with genetic risk factors for major depressive disorder 4. In cancer contexts, CYTH4 is upregulated in glioma-associated M2 macrophages and correlates with pyroptosis and poor prognosis 2; it is similarly elevated in ovarian cancer with worse survival outcomes and altered immune infiltration 1. A genome-wide association study identified CYTH4 as a fibroid risk locus in African American women, where lower predicted expression correlates with increased risk 5. Recent studies identify CYTH4 as a potential biomarker in Alzheimer's disease and mild cognitive impairment 6, and as a predictor of immunotherapy response in melanoma 7.

Sources cited
1
CYTH4 is an ARF-GEF family member that mediates GDP/GTP exchange on ARF, regulating protein trafficking and membrane dynamics; upregulated in ovarian cancer with poor prognostic implications
PMID: 33078956
2
CYTH4 is overexpressed in glioma-associated M2 macrophages, correlates with pyroptosis, and serves as a potential glioma biomarker
PMID: 36749492
3
CYTH4 contains a primate-specific GTTT-repeat; shorter alleles associate with multiple sclerosis, Alzheimer's disease, and bipolar disorder, while longer alleles provide neuroprotection
PMID: 25823437
4
CYTH4 is a loneliness-associated switch gene overlapping with genetic variants in major depressive disorder
PMID: 36982982
5
CYTH4 genetic variant rs739187 associated with uterine fibroid risk in African American women; lower predicted CYTH4 expression correlates with fibroid risk
PMID: 28836065
6
CYTH4 is upregulated in mild cognitive impairment and Alzheimer's disease, identified as potential biomarker through miRNA-mRNA network analysis
PMID: 33541173
7
CYTH4 is identified as novel predictor of immune checkpoint blockade therapy response in melanoma
PMID: 36588164
8
CYTH4 GTTT-repeat shows excess homozygosity in schizophrenia patients; disease-only genotypes detected only in schizophrenia cases
PMID: 28723299
Disease Associationsⓘ20
Benign Thyroid Gland NeoplasmOpen Targets
0.31Weak
acute myeloid leukemiaOpen Targets
0.09Suggestive
temporomandibular joint disorderOpen Targets
0.09Suggestive
uterine fibroidOpen Targets
0.06Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
FTH1-related iron overloadOpen Targets
0.03Suggestive
hemochromatosis type 5Open Targets
0.03Suggestive
46,XY disorder of sex development due to isolated 17,20 lyase deficiencyOpen Targets
0.03Suggestive
gliomaOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
chronic myelogenous leukemiaOpen Targets
0.02Suggestive
acute lymphoblastic leukemiaOpen Targets
0.01Suggestive
bipolar disorderOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
leiomyomaOpen Targets
0.01Suggestive
cutaneous lupus erythematosusOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PSD3Shared pathway100%PSD4Shared pathway100%PSD2Shared pathway100%ARFGEF3Shared pathway100%ARF6Protein interaction98%ARF1Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
59%
Liver
11%
Heart
10%
Brain
5%
Ovary
4%
Gene Interaction Network
Click a node to explore
CYTH4PSD3PSD4PSD2ARFGEF3ARF6ARF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UIA0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.52Moderately Constrained
pLIⓘ
0.94Intolerant
Observed/Expected LoF0.36 [0.25–0.52]
RankingsWhere CYTH4 stands among ~20K protein-coding genes
  • #12,333of 20,598
    Most Researched28
  • #3,171of 17,882
    Most Constrained (LOEUF)0.52 · top quartile
Genes detectedCYTH4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Co-Expression Network Analysis Identifies Molecular Determinants of Loneliness Associated with Neuropsychiatric and Neurodegenerative Diseases.
PMID: 36982982
Int J Mol Sci · 2023
1.00
2
Cytohesin-4 Upregulation in Glioma-Associated M2 Macrophages Is Correlated with Pyroptosis and Poor Prognosis.
PMID: 36749492
J Mol Neurosci · 2023
0.90
3
Clinical implication and immunological characterisation of the ARF-GEF family member CYTH4 in ovarian cancer.
PMID: 33078956
Autoimmunity · 2020
0.80
4
A multi-stage genome-wide association study of uterine fibroids in African Americans.
PMID: 28836065
Hum Genet · 2017
0.70
5
Dominant and Protective Role of the CYTH4 Primate-Specific GTTT-Repeat Longer Alleles Against Neurodegeneration.
PMID: 25823437
J Mol Neurosci · 2015
0.60