ANTXR1

ANTXR cell adhesion molecule 1

2 disorders 1 causative 1 unknown 2p13.3 gene with protein product

HGNC:21014 Monarch NCBI Gene 84168 ENSG00000169604 UniProt Q9H6X2 OMIM 606410

Aliases: TEM8, FLJ21776, FLJ10601, ATR.

Normal function · from ai-gene-review (Q9H6X2, commit e7236877cf14) · AI-generated, not KB evidence

ANTXR1 (TEM8) is a cell-surface receptor whose transmembrane forms couple extracellular attachment to the actin cytoskeleton. Its extracellular von Willebrand factor A domain supports ligand recognition, while the cytoplasmic tail binds actin and contributes to adhesion-dependent cell spreading and organization of membrane protrusions. Direct collagen-I recognition and receptor-dependent collagen uptake support a role in extracellular-matrix handling; collagen-VI recognition remains experimentally contested. In specific cellular settings ANTXR1 binds urokinase plasminogen activator and promotes EGFR signaling. It also binds anthrax protective antigen. Biallelic loss of ANTXR1 causes GAPO syndrome.

Couples extracellular matrix attachment to the actin cytoskeleton through a membrane receptor and actin-binding cytoplasmic tail, supporting adhesion-dependent spreading and protrusive membrane organization.

molecular function: cell adhesion receptor activity · directly involved in: substrate adhesion-dependent cell spreading · locations: plasma membrane; lamellipodium membrane; filopodium membrane

Binds and bundles actin filaments through the cytoplasmic tail, providing a structural link between the membrane receptor and the actin cytoskeleton. Purified human tail residues 360–420 bind human beta-actin, with the Y383A substitution disrupting the interaction; this does not establish actin polymerization.

molecular function: actin filament binding · directly involved in: actin cytoskeleton organization · locations: plasma membrane

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
GAPO Syndrome	causative germline loss of function	mechanism: ANTXR1 Loss of Function
Infantile Hemangioma	unknown germline

ClinGen gene–disease validity · snapshot 2026-10-24 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
GAPO syndrome MONDO:0009263	AR	Definitive 2025-07-18	GAPO Syndrome causative

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.