CNNM4

Chr 2q11.2

cyclin and CBS domain divalent metal cation transport mediator 4

Aliases:: SLC70A4, KIAA1592
MANE:: ENST00000377075.3

OMIM: 607805 ↗NCBI: 26504 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CNNM4 · Q6P4Q7

v62025-08-01

Predicted Aligned Error matrix for CNNM4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.6/ 100

Confident

775 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)39%
Low(50–70)10%
Very low(< 50)17%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)

Disease associations (Open Targets)

Jalili syndrome
0.79
Retinal dystrophy
0.52
eye disorder
0.42
bipolar disorder
0.39
obsessive-compulsive disorder
0.27
schizophrenia
0.27
autism spectrum disorder
0.27
attention deficit-hyperactivity disorder
0.27
anorexia nervosa
0.27
Tourette syndrome
0.27

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

Protein function (UniProt)

Metal transporter CNNM4

Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function