NBEAL2

Chr 3p21.31

neurobeachin like 2

Aliases:: KIAA0540
MANE:: ENST00000450053.8

OMIM: 614169 ↗NCBI: 23218 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NBEAL2 · Q6ZNJ1-2isoform

No predicted structure exists for the canonical Q6ZNJ1 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for NBEAL2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.5/ 100

Confident

2,570 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)53%
Low(50–70)12%
Very low(< 50)16%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

gray platelet syndrome
0.82
Thrombocytopenia
0.41
Abnormal bleeding
0.39
type 2 diabetes mellitus
0.24
hereditary disease
0.19
smoking initiation
0.17
mathematical ability
0.12
keratoconus
0.11
amegakaryocytic thrombocytopenia, congenital, 2
0.08
diabetes mellitus
0.08

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

Protein function (UniProt)

Neurobeachin-like protein 2

Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis