RTTN

Chr 18q22.2

rotatin

Aliases:: DKFZP434G145
MANE:: ENST00000640769.2

OMIM: 610436 ↗NCBI: 25914 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

RTTN · Q86VV8

v62025-08-01

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

Mean pLDDT

77.1/ 100

Confident

2,226 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)56%
Low(50–70)8%
Very low(< 50)14%

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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations

Disease associations (Open Targets)

microcephalic primordial dwarfism due to RTTN deficiency
0.81
bilateral generalized polymicrogyria
0.67
Primary microcephaly
0.47
microcephaly
0.42
Intellectual disability
0.37
autosomal recessive primary microcephaly
0.37
bilateral polymicrogyria
0.37
alcohol drinking
0.27
stroke disorder
0.26
premature birth
0.26

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

Protein function (UniProt)

Rotatin

Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2