RERE

Chr 1p36.23

arginine-glutamic acid dipeptide repeats

Aliases:: KIAA0458, ARP, ARG, DNB1, ATN2
MANE:: ENST00000400908.7

OMIM: 605226 ↗NCBI: 473 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RERE · Q9P2R6

v62025-08-01

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

Mean pLDDT

53.3/ 100

Low

1,566 residues

Confidence breakdown

Very high(≥ 90)10%
Confident(70–90)20%
Low(50–70)9%
Very low(< 50)61%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
0.76
hereditary disease
0.53
asthma
0.42
hypothyroidism
0.39
complex neurodevelopmental disorder with or without congenital anomalies
0.37
dermatophytosis
0.37
spondylosis
0.36
knee injury
0.34
Neck pain
0.34
allergic disease
0.33

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

Protein function (UniProt)

Arginine-glutamic acid dipeptide repeats protein

Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death