RHBDF2

Chr 17q25.1

rhomboid 5 homolog 2

Aliases:: FLJ22341, RHBDL5, TOCG, iRhom2
MANE:: ENST00000675367.1

OMIM: 614404 ↗NCBI: 79651 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RHBDF2 · Q6PJF5

v62025-08-01

Predicted Aligned Error matrix for RHBDF2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.4/ 100

Low

856 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)28%
Low(50–70)9%
Very low(< 50)35%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ichthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar keratoderma and erythrokeratodermas
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar keratodermas
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

palmoplantar keratoderma-esophageal carcinoma syndrome
0.76
Oral leukoplakia
0.37
neurodegenerative disease
0.35
hereditary disease
0.19
colitis
0.19
Immunodeficiency
0.19
pneumonia
0.19
immune system disorder
0.19
immunodeficiency disease
0.19
hepatoblastoma
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Inactive rhomboid protein 2

Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own