Gene Gene information from NCBI Gene database.
Entrez ID 27128
Gene name Cytohesin 4
Gene symbol CYTH4
Synonyms (NCBI Gene)
CYT4DJ63G5.1PSCD4cytohesin-4
Chromosome 22
Chromosome location 22q13.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
61
miRTarBase ID miRNA Experiments Reference
MIRT043285 hsa-miR-331-3p CLASH 23622248
MIRT922308 hsa-miR-1 CLIP-seq
MIRT922309 hsa-miR-1470 CLIP-seq
MIRT922310 hsa-miR-206 CLIP-seq
MIRT922311 hsa-miR-3673 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 10652308
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606514 9505 ENSG00000100055
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UIA0
Protein name Cytohesin-4 (PH, SEC7 and coiled-coil domain-containing protein 4)
Protein function Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF factors through replacement of GDP with GTP.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01369 Sec7 61 243 Sec7 domain Domain
PF00169 PH 260 375 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in peripheral blood leukocytes. {ECO:0000269|PubMed:10652308}.
Sequence
Sequence length 394
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Phospholipase D signaling pathway
Endocytosis
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
  Intra-Golgi traffic
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Celiac Disease Associate 31591516
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Associate 36982982
★☆☆☆☆
Found in Text Mining only
Leiomyoma Associate 28836065
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 33078956
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Stimulate 33078956
★☆☆☆☆
Found in Text Mining only