ANTXR2

Chr 4AR

ANTXR cell adhesion molecule 2

Also known as: CMG-2, CMG2, HFS, ISH, JHF

NCBI Gene: 118429ENSG00000163297UniProt: P58335OMIM: 608041

This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hyaline fibromatosis syndromeMIM #228600
AR

Clinical highlights

Gene-disease validity (ClinGen)
hyaline fibromatosis syndrome · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
29
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.50
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — ANTXR2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.50LOEUF
pLI 0.087
Z-score 3.47
OE 0.27 (0.15–0.50)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.03Z-score
OE missense 0.81 (0.72–0.92)
191 obs / 235.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.27 (0.15–0.50)
0≤0.351.4
Missense OE?0.81 (0.72–0.92)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 7 / 26.1Missense obs/exp: 191 / 235.2Syn Z: 0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ANTXR2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients