Gene
ANKLE2
ankyrin repeat and LEM domain containing 2
- HGNC 29101↗(opens in a new tab)
- Ensembl gene ENSG00000176915↗(opens in a new tab)
- NCBI Gene 23141↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q24.33
- Coordinates
- Chromosome 12: 132,725,503–132,761,832 (GRCh38)
- Exons
- 13 exons across 36.3 kb
- Protein
- 938 amino acids
- Also known as
- LEMD7, Lem4
- Previous symbols
- KIAA0692
- MANE Select transcript
- ENST00000357997.10NM_015114.3
- 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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No Genome Test report reads ANKLE2 yet. The test sequences your whole genome, so your data includes it all the same.
How ANKLE2 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 4.6 kb of the gene's 36.3 kb; 2,817 of those bases code for the protein.
How a genome test reads ANKLE2
6
positions in ANKLE2 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 36.3 kb of ANKLE2, introns included, not only the 4.6 kb of exons.
Traits linked to ANKLE2
The Human Phenotype Ontology lists these as features of the rare conditions ANKLE2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Agenesis of corpus callosum
- Simplified gyral pattern
- Global developmental delay
- Gray matter heterotopia
- Intellectual disability, severe
- Epilepsy
- Fewer and broader ridges in brain
- Increased reflexes
Show 2 more traits
Abnormality of head or neck
- Drooling
- Sloping forehead
- Small head present at birth
- Abnormally small head
- Thin red part of the upper lip
- Upward slanting of the opening between the eyelids
- Corners of eye widely separated
- Little lower jaw
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.
- 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.). ANKLE2 gene: ankyrin repeat and LEM domain containing 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/ankle2
Dante Labs. ANKLE2 gene: ankyrin repeat and LEM domain containing 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ankle2
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