RIPOR2

Chr 6p22.3

RHO family interacting cell polarization regulator 2

Aliases:: KIAA0386, DIFF48, MYONAP
MANE:: ENST00000643898.2

OMIM: 611410 ↗NCBI: 9750 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RIPOR2 · Q9Y4F9

v62025-08-01

Predicted Aligned Error matrix for RIPOR2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.3/ 100

Low

1,068 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)23%
Low(50–70)5%
Very low(< 50)41%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal recessive
0.52
deafness
0.45
autosomal dominant nonsyndromic hearing loss
0.44
nonsyndromic genetic hearing loss
0.40
Non-syndromic genetic deafness
0.39
iron metabolism disease
0.29
rheumatoid arthritis
0.26
mineral metabolism disease
0.26
dementia
0.26
metabolic disease
0.25

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

Protein function (UniProt)

Rho family-interacting cell polarization regulator 2

Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization (PubMed:17150207, PubMed:23241886, PubMed:24687993, PubMed:24958875, PubMed:25588844, PubMed:27556504). Inhibits chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration (PubMed:23241886). Involved also in the regulation of neutrophil polarization, chemotaxis and adhesion (By similarity). Required for normal development of inner and outer hair cell stereocilia within the cochlea of the inner ear (By similarity). Plays a role for maintaining the structural organization of the basal domain of stereocilia (By similarity). Involved in mechanosensory hair cell function (By similarity). Required for normal hearing (PubMed:24958875)