Entity Details

Primary name RHOH
Entity type gene
Source Source Link

Details

PrimaryID399
RefseqGeneNG_033255
SymbolRHOH
Nameras homolog family member H
Chromosome4
Location4p14
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-07-30
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsRHOH_HUMAN

GO terms

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GOName
GO:0001772 immunological synapse
GO:0003924 GTPase activity
GO:0005095 GTPase inhibitor activity
GO:0005525 GTP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0006355 regulation of transcription, DNA-templated
GO:0007015 actin filament organization
GO:0007163 establishment or maintenance of cell polarity
GO:0008045 motor neuron axon guidance
GO:0008360 regulation of cell shape
GO:0016601 Rac protein signal transduction
GO:0019210 kinase inhibitor activity
GO:0019901 protein kinase binding
GO:0030031 cell projection assembly
GO:0030217 T cell differentiation
GO:0030865 cortical cytoskeleton organization
GO:0031267 small GTPase binding
GO:0031410 cytoplasmic vesicle
GO:0032956 regulation of actin cytoskeleton organization
GO:0042995 cell projection
GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043231 intracellular membrane-bounded organelle
GO:0043652 engulfment of apoptotic cell
GO:0045576 mast cell activation
GO:0045582 positive regulation of T cell differentiation
GO:0051056 regulation of small GTPase mediated signal transduction
GO:1902622 regulation of neutrophil migration

Diseases

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Disease IDSourceNameDescription
618307 OMIMEpidermodysplasia verruciformis 4 (EV4)A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV4 patients have decreased number of naive T cells, increased memory and effector T cells, and impaired T-cell receptor signaling. EV4 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.