NBEA

Chr 13q13.3

neurobeachin

Aliases:: KIAA1544, BCL8B, FLJ10197, LYST2
MANE:: ENST00000379939.7

OMIM: 604889 ↗NCBI: 26960 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NBEA · Q8NFP9-3isoform

No predicted structure exists for the canonical Q8NFP9 sequence; metrics below describe this isoform.

v62025-08-01

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

Mean pLDDT

88.9/ 100

Confident

739 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)18%
Low(50–70)4%
Very low(< 50)5%

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
Inherited bleeding disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with or without early-onset generalized epilepsy
0.65
epilepsy, early-onset, with or without developmental delay
0.62
Intellectual disability
0.56
hereditary disease
0.51
cerebellar, ocular, craniofacial, and genital syndrome
0.50
hepatocellular carcinoma
0.47
Global developmental delay
0.46
Seizure
0.46
ovarian carcinoma
0.42
complex neurodevelopmental disorder
0.37

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

Protein function (UniProt)

Neurobeachin

Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity)