Gene
AMOTL1
angiomotin like 1
- HGNC 17811↗(opens in a new tab)
- Ensembl gene ENSG00000166025↗(opens in a new tab)
- NCBI Gene 154810↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q21
- Coordinates
- Chromosome 11: 94,768,356–94,876,748 (GRCh38)
- Exons
- 13 exons across 108.4 kb
- Protein
- 956 amino acids
- Also known as
- JEAP
- MANE Select transcript
- ENST00000433060.3NM_130847.3
- 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 AMOTL1 yet. The test sequences your whole genome, so your data includes it all the same.
How AMOTL1 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 9 kb of the gene's 108.4 kb; 2,871 of those bases code for the protein.
How a genome test reads AMOTL1
2
positions in AMOTL1 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 108.4 kb of AMOTL1, introns included, not only the 9 kb of exons.
Traits linked to AMOTL1
The Human Phenotype Ontology lists these as features of the rare conditions AMOTL1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Bicoronal synostosis
- Bifid uvula
- Big lower jaw
- Bilateral alveolar cleft of maxilla
- Both sided cleft lip
- Broad forehead
- Corners of eye widely separated
- Decreased size of maxilla
Show 26 more traits
- Depressed nasal bridge
- Deviated nasal tip
- Downturned corners of mouth
- Downward slanting of the opening between the eyelids
- Enlarged cisterna magna
- Everted eyelid
- Eye folds
- Failure of development of between one and six teeth
- Flattened bony protrusion above eyes
- High frontal hairline
- High palate
- Little lower jaw
- Midface retrusion
- One sided cleft palate
- One sided cleft upper lip
- Posterior plagiocephaly
- Prominent metopic ridge
- Retraction of the tongue
- Right and left cleft palate
- Round face
- Short uvula
- Small retruded chin
- Submucous cleft palate
- Thin red part of the upper lip
- Cleft lip
- Cleft palate
Abnormality of the digestive system
- Abnormal connection between rectum and vagina
- Absent anus
- Acid reflux
- Chronic constipation
- Feeding difficulties
- Hepatic fibrosis
- Poor swallowing
- Slowed or blocked flow of bile from liver
Show 2 more traits
Abnormality of the cardiovascular system
- An opening in the wall separating the top two chambers of the heart
- Cardiac failure
- Double orifice mitral valve
- Hole in heart wall separating two lower heart chambers
- Increased blood pressure in blood vessels of lungs
- Mitral valve prolapse
- Narrowing of pulmonic valve
- Tetralogy of Fallot
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.). AMOTL1 gene: angiomotin like 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/amotl1
Dante Labs. AMOTL1 gene: angiomotin like 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/amotl1
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