ERGIC3

Chr 20q11.22

ERGIC and golgi 3

Aliases:: CGI-54, PRO0989, NY-BR-84, Erv46
MANE:: ENST00000348547.7

OMIM: 616971 ↗NCBI: 51614 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ERGIC3 · Q9Y282

v62025-08-01

Predicted Aligned Error matrix for ERGIC3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.9/ 100

Confident

383 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)41%
Low(50–70)15%
Very low(< 50)2%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Abnormality of the skeletal system
0.30
developmental disability
0.26
Intellectual disability
0.18
refractive error
0.11
Rare familial disorder with hypertrophic cardiomyopathy
0.09
lung carcinoma
0.09
lung cancer
0.09
hypertrophic cardiomyopathy
0.09
familial isolated dilated cardiomyopathy
0.08
left ventricular noncompaction
0.08

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

Protein function (UniProt)

Endoplasmic reticulum-Golgi intermediate compartment protein 3

Possible role in transport between endoplasmic reticulum and Golgi. Positively regulates trafficking of the secretory proteins SERPINA1/alpha1-antitrypsin and HP/haptoglobin (PubMed:31142615)