SNRPB

Chr 20p13

small nuclear ribonucleoprotein polypeptides B and B1

Aliases:: COD, SmB/SmB', Sm-B/B', snRNP-B
MANE:: ENST00000381342.7

OMIM: 182282 ↗NCBI: 6628 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SNRPB · P14678

v62025-08-01

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

Mean pLDDT

69.5/ 100

Low

240 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)12%
Low(50–70)47%
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)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

cerebrocostomandibular syndrome
0.76
Cerebro-costo-mandibular syndrome
0.73
neurodegenerative disease
0.50
dengue disease
0.37
cleft palate
0.37
isolated Pierre-Robin syndrome
0.26
Pierre-Robin sequence
0.26
Intellectual disability
0.26
hereditary disease
0.19
hepatocellular carcinoma
0.10

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

Protein function (UniProt)

Small nuclear ribonucleoprotein-associated proteins B and B'

Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, PubMed:26912367, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:32494006). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:28781166). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077). As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing (PubMed:12975319)