TRAPPC12

Chr 2p25.3

trafficking protein particle complex subunit 12

Aliases:: CGI-87, TTC-15
MANE:: ENST00000324266.10

OMIM: 614139 ↗NCBI: 51112 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TRAPPC12 · Q8WVT3

v62025-08-01

Predicted Aligned Error matrix for TRAPPC12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.9/ 100

Low

735 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)20%
Low(50–70)2%
Very low(< 50)40%

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

Disease associations (Open Targets)

early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
0.79
neurodegenerative disease
0.52
hereditary disease
0.50
Hydrocephalus
0.37
Severe hydrocephalus
0.26
alcohol drinking
0.24
mixed connective tissue disease
0.24
stroke disorder
0.24
bronchial disorder
0.24
nutritional deficiency disease
0.22

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

Protein function (UniProt)

Trafficking protein particle complex subunit 12

Component of the TRAPP complex, which is involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage (PubMed:21525244, PubMed:28777934). Also plays a role in chromosome congression, kinetochore assembly and stability and controls the recruitment of CENPE to the kinetochores (PubMed:25918224)