ANTXR1

Chr 2p13.3

ANTXR cell adhesion molecule 1

Aliases:: TEM8, FLJ21776, FLJ10601, ATR
MANE:: ENST00000303714.9

OMIM: 606410 ↗NCBI: 84168 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ANTXR1 · Q9H6X2

v62025-08-01

Predicted Aligned Error matrix for ANTXR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.4/ 100

Confident

564 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)19%
Low(50–70)20%
Very low(< 50)24%

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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PHACE(S) syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

GAPO syndrome
0.71
Abnormality of the skeletal system
0.67
anthrax infection
0.56
capillary infantile hemangioma
0.44
Dupuytren Contracture
0.37
corneal dystrophy
0.35
corneal disorder
0.35
hypertensive disorder
0.33
glaucoma
0.32
open-angle glaucoma
0.32

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

Protein function (UniProt)

Anthrax toxin receptor 1

Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton and thereby plays an important role in normal extracellular matrix (ECM) homeostasis. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells. May also act as a receptor for PLAU. Upon ligand binding, stimulates the phosphorylation of EGFR and ERK1/2 (PubMed:30241478)