CRIM1

Chr 2p22.2

cysteine rich transmembrane BMP regulator 1

MANE:: ENST00000280527.7

OMIM: 606189 ↗NCBI: 51232 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CRIM1 · Q9NZV1

v62025-08-01

Predicted Aligned Error matrix for CRIM1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.1/ 100

Low

1,036 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)60%
Low(50–70)17%
Very low(< 50)22%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

colobomatous macrophthalmia-microcornea syndrome
0.46
atrial fibrillation
0.43
mathematical ability
0.43
hypertensive disorder
0.39
alcohol drinking
0.38
cervical carcinoma
0.31
jaw disease
0.31
smoking initiation
0.31
vein disorder
0.30
neuroblastoma
0.29

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

Protein function (UniProt)

Cysteine-rich motor neuron 1 protein

May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival. May play a role in capillary formation and maintenance during angiogenesis. Modulates BMP activity by affecting its processing and delivery to the cell surface