Gene
ANTXR2
ANTXR cell adhesion molecule 2
- HGNC 21732↗(opens in a new tab)
- Ensembl gene ENSG00000163297↗(opens in a new tab)
- NCBI Gene 118429↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q21.21
- Coordinates
- Chromosome 4: 79,901,146–80,073,229 (GRCh38)
- Exons
- 17 exons across 172.1 kb
- Protein
- 488 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- CMG2, CMG-2, FLJ31074
- MANE Select transcript
- ENST00000403729.7NM_058172.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Hereditary Fibromatoses
- Hyaline fibromatosis syndromeAutosomal recessive
Skin nodules, gum overgrowth, painful joint contractures and, in severe forms, protein-losing diarrhoea, caused by variants in ANTXR2.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How ANTXR2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8.4 kb of the gene's 172.1 kb; 1,467 of those bases code for the protein.
How a genome test reads ANTXR2
26
positions in ANTXR2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 172.1 kb of ANTXR2, introns included, not only the 8.4 kb of exons.
Traits linked to ANTXR2
The Human Phenotype Ontology lists these as features of the rare conditions ANTXR2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormality of dental shape
- Abnormality of the face
- Abnormality of the skull
- Big calvaria
- Coarse facial features
- Gum enlargement
- Short neck
- Gingival fibromatosis
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ANTXR2 gene: ANTXR cell adhesion molecule 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/antxr2
Dante Labs. ANTXR2 gene: ANTXR cell adhesion molecule 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/antxr2
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