HNRNPR

Chr 1p36.12

heterogeneous nuclear ribonucleoprotein R

Aliases:: hnRNP-R
MANE:: ENST00000302271.11

OMIM: 607201 ↗NCBI: 10236 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

HNRNPR · O43390

v62025-08-01

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

Mean pLDDT

68.8/ 100

Low

633 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)18%
Low(50–70)4%
Very low(< 50)36%

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
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
0.71
Intellectual disability
0.55
Global developmental delay
0.46
Secondary microcephaly
0.46
Seizure
0.46
hereditary disease
0.45
neurodegenerative disease
0.37
dengue disease
0.37
syndromic intellectual disability
0.37
gastric cancer
0.08

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

Protein function (UniProt)

Heterogeneous nuclear ribonucleoprotein R

Component of ribonucleosomes, which are complexes of at least 20 other different heterogeneous nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus