Entity Details

Primary name RHDF2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6PJF5
EntryNameRHDF2_HUMAN
FullNameInactive rhomboid protein 2
TaxID9606
Evidenceevidence at protein level
Length856
SequenceStatuscomplete
DateCreated2008-07-01
DateModified2021-06-02

Ontological Relatives

GenesRHBDF2

GO terms

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GOName
GO:0002862 negative regulation of inflammatory response to antigenic stimulus
GO:0005789 endoplasmic reticulum membrane
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0006508 proteolysis
GO:0015031 protein transport
GO:0016021 integral component of membrane
GO:0019838 growth factor binding
GO:0042058 regulation of epidermal growth factor receptor signaling pathway
GO:0050708 regulation of protein secretion
GO:0050709 negative regulation of protein secretion

Subcellular Location

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Subcellular Location
Cell membrane
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR022241 Rhomboid serine proteaseFamilyFamily
IPR022764 Peptidase S54, rhomboid domainDomainDomain
IPR035952 Rhomboid-like superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
148500 OMIMTylosis with esophageal cancer (TOC)An autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions