Gene
ALG9
ALG9 alpha-1,2-mannosyltransferase
- HGNC 15672↗(opens in a new tab)
- Ensembl gene ENSG00000086848↗(opens in a new tab)
- NCBI Gene 79796↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q23.1
- Coordinates
- Chromosome 11: 111,782,195–111,871,581 (GRCh38)
- Exons
- 15 exons across 89.4 kb
- Protein
- 618 amino acids
- Previous symbols
- DIBD1
- MANE Select transcript
- ENST00000616540.5NM_024740.2
- 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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Get my Genome TestCurated reports relevant to this gene
Polycystic Kidney Disease
A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Tolvaptan (Jynarque, FDA 2018) for rapidly progressive ADPKD; blood pressure control (target <110/75); pain management; cyst infection treatment; brain MRA screening for intracranial aneurysms; kidney transplantation for ESRD
Broader groupings
Congenital Disorders of Glycosylation
- Congenital Disorders of Glycosylation (CDG)
One of 98 genes linked to it
A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.
- 3 GenCC submitters rate it definitive or strong
How ALG9 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 6.2 kb of the gene's 89.4 kb; 1,857 of those bases code for the protein.
How a genome test reads ALG9
38
positions in ALG9 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 89.4 kb of ALG9, introns included, not only the 6.2 kb of exons.
Genes linked to the same conditions
- ALG8ALG8 alpha-1,3-glucosyltransferaseShares 2 conditions
- A4GALTalpha 1,4-galactosyltransferase (P1PK blood group)Shares 1 condition
- ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferaseShares 1 condition
- ALG11ALG11 alpha-1,2-mannosyltransferaseShares 1 condition
- ALG12ALG12 alpha-1,6-mannosyltransferaseShares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- ALG2ALG2 alpha-1,3/1,6-mannosyltransferaseShares 1 condition
- ALG3ALG3 alpha-1,3- mannosyltransferaseShares 1 condition
- ALG5ALG5 dolichyl-phosphate beta-glucosyltransferaseShares 1 condition
- ALG6ALG6 alpha-1,3-glucosyltransferaseShares 1 condition
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 1 condition
Traits linked to ALG9
The Human Phenotype Ontology lists these as features of the rare conditions ALG9 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Beaked nose
- Little lower jaw
- Receding chin
- Short neck
- Smooth philtrum
- Thickened skin folds of neck
- Underdeveloped tissue around nostril
- Abnormally small head
Show 20 more traits
- Decreased bone formation of skull
- Corners of eye widely separated
- Eye folds
- Progressively abnormally small cranium
- Wider-than-typical soft spot of skull
- Bifid uvula
- Broad head shape
- Decreased depth of eye sockets
- Delayed cranial suture closure
- Depressed nasal bridge
- Frontal bossing
- Long philtrum
- Low hairline at back of neck
- Low insertion of columella
- Prominent metopic ridge
- Short nose
- Small retruded chin
- Thin red part of the upper lip
- Wide mouth
- Wry neck
Abnormality of the digestive system
- Enlarged liver
- Villous atrophy
- Liver cysts
- Omphalocele
- Periportal fibrosis
- Accumulation of fluid in the abdomen
- Acid reflux
- Diarrhea
Show 3 more traits
Laboratory abnormality
- Decreased circulating cholesterol level
- Low albumin
- Type I transferrin isoform profile
- Elevated creatinine
- Abnormal urinary electrolyte concentration
- Albuminuria
- Blood in urine
- Fetal skin edema
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.). ALG9 gene: ALG9 alpha-1,2-mannosyltransferase. Retrieved 17 October 2026, from https://dantelabs.com/genes/alg9
Dante Labs. ALG9 gene: ALG9 alpha-1,2-mannosyltransferase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/alg9
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