RHBDF2: Gene Detail - Cancer Knowledgebase (CKB)

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Gene Symbol

RHBDF2

Synonyms

iRhom2 | RHBDL5 | RHBDL6 | TOC | TOCG

Gene Description

RHBDF2, rhomboid 5 homolog 2, is a pseudoprotease of the rhomboid superfamily transmembrane proteins that regulates Adam17 trafficking and activity (PMID: 22246777), which processes and activates signaling molecules including EGFR, TNF, and NOTCH (PMID: 32911849), and plays a role in innate immune function (PMID: 27428826, PMID: 29155878). Mutations in RHBDF2 have been associated with tylosis with esophageal cancer (PMID: 22265016, PMID: 22638770), and increased RHBDF2 expression has been identified in oral squamous cell carcinoma (PMID: 32236893) and cervical cancer (PMID: 31661139).

NCBI Gene ID	Chromosome	Map Location	Canonical Transcript	Gene Role
79651	17	17q25.1	NM_024599	Unknown

Additional content available in

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Gene Variants 5
Category Variants 2
Molecular Profiles 5
Evidence 0
Clinical Trials 0

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RHBDF2 - Gene Detail

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