RIN2

Chr 20p11.23

Ras and Rab interactor 2

Aliases:: RASSF4
MANE:: ENST00000255006.12

OMIM: 610222 ↗NCBI: 54453 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RIN2 · Q8WYP3

v62025-08-01

Predicted Aligned Error matrix for RIN2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.3/ 100

Low

895 residues

Confidence breakdown

Very high(≥ 90)21%
Confident(70–90)28%
Low(50–70)9%
Very low(< 50)42%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

RIN2 syndrome
0.68
MACS syndrome
0.59
Abnormality of the skeletal system
0.53
liver disorder
0.34
alcohol drinking
0.33
Hypoventilation
0.32
osteoarthritis
0.30
urolithiasis
0.27
glomerulonephritis
0.25
enteritis
0.24

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

Protein function (UniProt)

Ras and Rab interactor 2

Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP