Gene
ADAMTSL2
ADAMTS like 2
- HGNC 14631↗(opens in a new tab)
- Ensembl gene ENSG00000197859↗(opens in a new tab)
- NCBI Gene 9719↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q34.2
- Coordinates
- Chromosome 9: 133,534,704–133,575,519 (GRCh38)
- Exons
- 19 exons across 40.8 kb
- Protein
- 951 amino acids
- Also known as
- KIAA0605
- MANE Select transcript
- ENST00000651351.2NM_014694.4
- 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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How ADAMTSL2 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 3.9 kb of the gene's 40.8 kb; 2,856 of those bases code for the protein.
How a genome test reads ADAMTSL2
12
positions in ADAMTSL2 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 40.8 kb of ADAMTSL2, introns included, not only the 3.9 kb of exons.
Traits linked to ADAMTSL2
The Human Phenotype Ontology lists these as features of the rare conditions ADAMTSL2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Thin red part of the upper lip
- Long philtrum
- Narrow eyelid opening
- Round face
- Wide nasal bridge
- Abnormal dentition
- Depressed nasal bridge
- Eye folds
Show 14 more traits
- Gum enlargement
- Increased size of nasopharyngeal adenoids
- Little lower jaw
- Nasal tip, upturned
- Short nose
- Wide fontanelles
- Dental crowding
- Downward slanting of the opening between the eyelids
- Failure of development of between one and six teeth
- Receding chin
- J-shaped sella turcica
- Smooth philtrum
- Upward slanting of the opening between the eyelids
- Wide mouth
Abnormality of the cardiovascular system
- Increased blood pressure in blood vessels of lungs
- increased pulmonary artery pressure
- Valvular pulmonary stenosis
- Hole in center of heart
- Mitral regurgitation
- Mitral stenosis
- Narrowing of aortic valve
- Cardiac failure
Show 1 more trait
Abnormality of the respiratory system
- Laryngotracheal stenosis
- Obstructive lung disease
- Abnormality in area between air sacs in lung
- Floppy windpipe
- Laryngeal stenosis
- Narrowing of windpipe
- Respiratory function loss
- Softening of voice box tissue
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.). ADAMTSL2 gene: ADAMTS like 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/adamtsl2
Dante Labs. ADAMTSL2 gene: ADAMTS like 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/adamtsl2
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