TRAPPC6B

Chr 14q21.1

trafficking protein particle complex subunit 6B

MANE:: ENST00000330149.10

OMIM: 610397 ↗NCBI: 122553 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TRAPPC6B · Q86SZ2

v62025-08-01

Predicted Aligned Error matrix for TRAPPC6B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.8/ 100

Very high

158 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)17%
Low(50–70)3%
Very low(< 50)0%

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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
0.75
hereditary disease
0.34
neurodegenerative disease
0.26
hypertensive disorder
0.04
smoking initiation
0.04
insomnia
0.04
alcohol drinking
0.03
myocardial ischemia
0.03
male reproductive organ cancer
0.03
neurodevelopmental disorder
0.02

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

Protein function (UniProt)

Trafficking protein particle complex subunit 6B

Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic (PubMed:16025134, PubMed:16828797). Specifically involved in the early development of neural circuitry, likely by controlling the frequency and amplitude of intracellular calcium transients implicated in the regulation of neuron differentiation and survival (Probable)