ADAM22

Chr 7q21.12

ADAM metallopeptidase domain 22

Aliases:: MDC2
MANE:: ENST00000413139.2

OMIM: 603709 ↗NCBI: 53616 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ADAM22 · Q9P0K1

v62025-08-01

Predicted Aligned Error matrix for ADAM22 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.2/ 100

Confident

906 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)22%
Low(50–70)6%
Very low(< 50)28%

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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

developmental and epileptic encephalopathy, 61
0.70
developmental and epileptic encephalopathy
0.46
cholelithiasis
0.36
Abnormality of the immune system
0.24
vertebral column disorder
0.24
hereditary disease
0.19
Abnormality of the skeletal system
0.19
Respiratory insufficiency
0.18
Subdural hemorrhage
0.18
Intrahepatic cholestasis of pregnancy
0.08

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

Protein function (UniProt)

Disintegrin and metalloproteinase domain-containing protein 22

Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein (PubMed:19692335). Involved in regulation of cell adhesion and spreading and in inhibition of cell proliferation. Neuronal receptor for LGI1