RNPC3

Chr 1p21.1

RNA binding region (RNP1, RRM) containing 3

Aliases:: KIAA1839, FLJ20008, RBM40, SNRNP65
MANE:: ENST00000423855.7

OMIM: 618016 ↗NCBI: 55599 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

RNPC3 · Q96LT9

v62025-08-01

Predicted Aligned Error matrix for RNPC3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.4/ 100

Low

517 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)14%
Low(50–70)16%
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
BIALLELIC, autosomal or pseudoautosomal
IUGR and IGF abnormalities
BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

isolated growth hormone deficiency, type 5
0.71
neurodegenerative disease
0.52
Decreased response to growth hormone stimulation test
0.45
dentures
0.41
isolated growth hormone deficiency type IA
0.37
chronic atrophic gastritis
0.25
multinodular goiter
0.25
placenta praevia
0.20
hereditary disease
0.19
systemic lupus erythematosus
0.10

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

Protein function (UniProt)

RNA-binding region-containing protein 3

Participates in pre-mRNA U12-dependent splicing, performed by the minor spliceosome which removes U12-type introns. U12-type introns comprises less than 1% of all non-coding sequences. Binds to the 3'-stem-loop of m(7)G-capped U12 snRNA