ELMO2

Chr 20q13.12

engulfment and cell motility 2

Aliases:: CED12, ELMO-2, CED-12, KIAA1834, FLJ11656
MANE:: ENST00000290246.11

OMIM: 606421 ↗NCBI: 63916 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ELMO2 · Q96JJ3

v62025-08-01

Predicted Aligned Error matrix for ELMO2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.9/ 100

Confident

720 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)22%
Low(50–70)7%
Very low(< 50)2%

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
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Primary intraosseous vascular malformation
0.64
primary intraosseous venous malformation
0.60
neurodegenerative disease
0.50
cutaneous leishmaniasis
0.46
Alzheimer disease
0.46
lysosomal storage disease
0.46
multiple sclerosis
0.46
Parkinson disease
0.46
Ramon syndrome
0.37
circadian rhythm sleep disorder
0.24

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

Protein function (UniProt)

Engulfment and cell motility protein 2

Regulates the activity of DOCK guanine nucleotide exchange factors (GEFs) (PubMed:11595183, PubMed:11703939, PubMed:20679435, PubMed:32651375, PubMed:27476657). Acts in association with DOCK1, DOCK2, DOCK4 and CRK (PubMed:11595183, PubMed:20679435, PubMed:32651375, PubMed:27476657). Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility (PubMed:11595183)