AlphaFold predicted structure
RIMS2 · Q9UQ26
Mean pLDDT
54.5/ 100
Low
1,411 residues
Confidence breakdown
- Very high(≥ 90)17%
- Confident(70–90)17%
- Low(50–70)6%
- Very low(< 50)60%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
RIMS2
Chr 8q22.3regulating synaptic membrane exocytosis 2
- Aliases:
- KIAA0751, RIM2, OBOE
- MANE:
- ENST00000696799.1
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
cone-rod synaptic disorder syndrome, congenital nonprogressive
0.67liver disorder
0.31congenital stationary night blindness
0.30spermatocele
0.26Iron deficiency anemia
0.25arthritic joint disease
0.25Hyperhidrosis
0.25parasitic infectious disease
0.25thrombophilia
0.24placenta praevia
0.23
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Regulating synaptic membrane exocytosis protein 2
Rab effector involved in exocytosis. May act as scaffold protein. Plays a role in dendrite formation by melanocytes (PubMed:23999003)